MedWorm: Genetics

A reduction in hippocampal GABAA receptor α5 subunits disrupts the memory for location of objects in mice

Genes, Brain and Behavior — Sat, 20 Mar 2010 00:00:00 +0100

The memory for location of objects, which binds information about objects to discrete positions or spatial contexts of occurrence, is a form of episodic memory particularly sensitive to hippocampal damage. Its early decline is symptomatic for elderly dementia. Substances that selectively reduce [alpha]5-GABAA receptor function are currently developed as potential cognition enhancers for Alzheimer's syndrome and other dementia, consistent with genetic studies implicating these receptors that are highly expressed in hippocampus in learning performance. Here we explored the consequences of reduced GABAA[alpha]5-subunit contents, as occurring in [alpha]5(H105R) knock-in mice, on the memory for location of objects. This required the behavioral characterization of [alpha]5(H105R) and wild-type a...

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

Journal of Medical Genetics — Fri, 19 Mar 2010 17:53:08 +0100

Conclusions This de novo PCDH19 mutation in a sporadic female highlights that mutational analysis should be considered in isolated instances of girls with infantile onset seizures and developmental delay, in addition to those with the characteristic family history of EFMR. (Source: Journal of Medical Genetics)

Multiple single nucleotide polymorphisms in the human urate transporter 1 (hURAT1) gene are associated with hyperuricaemia in Han Chinese

Journal of Medical Genetics — Fri, 19 Mar 2010 17:53:08 +0100

Conclusion In conjunction with other studies, our results suggest that there are multiple genetic variants within or near hURAT1 that are associated with susceptibility to HUA in Han Chinese, including a novel SNP located in intron 3. (Source: Journal of Medical Genetics)

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

Journal of Medical Genetics — Fri, 19 Mar 2010 17:53:08 +0100

Conclusions The phenotypic spectrum associated with CNV at 16p11.2 includes ASD, MR/DD and/or possibly other primary psychiatric disorders. Compared with the microduplications, the reciprocal microdeletions are more likely to be penetrant and to be associated with non-specific major or minor dysmorphism. There are deletion positive ASD probands with a less severe phenotype than deletion negative ASD siblings underscoring the significant phenotypic heterogeneity. (Source: Journal of Medical Genetics)

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

Journal of Medical Genetics — Fri, 19 Mar 2010 17:53:08 +0100

Conclusions The results show that FUS missense mutations are present in 0.7% of Italian SALS cases, and confirm the previous mutational frequency reported in FALS (4.4%). An unusual proximal and axial clinical presentation seems to be associated with the presence of the p.R521C mutation. (Source: Journal of Medical Genetics)

Renal tumour suppressor function of the Birt-Hogg-Dube syndrome gene product folliculin

Journal of Medical Genetics — Fri, 19 Mar 2010 17:53:08 +0100

Conclusion In accordance with clinical data showing distinct renal malignancies arising in BHD patients, in this study FLCN is shown as a general tumour suppressor in the kidney. (Source: Journal of Medical Genetics)

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

A novel splice variant of the DNA-PKcs gene is associated with clinical and cellular radiosensitivity in a patient with xeroderma pigmentosum

Journal of Medical Genetics — Fri, 19 Mar 2010 17:53:07 +0100

Conclusion We provide evidence of a novel splice variant of the DNA-PKcs gene associated with radiosensitivity in a patient with xeroderma pigmentosum and report the first double mutant in distinct DNA repair pathways being consistent with viability. (Source: Journal of Medical Genetics)

Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

Journal of Medical Genetics — Fri, 19 Mar 2010 17:53:07 +0100

Conclusions We developed a comprehensive mutation detection system with a detection rate of almost 20% in unselected patients and up to 85% in a selected group. Using the patients' clinical characteristics and family history, clinicians can accurately predict the chance of finding a mutation. A genotype-phenotype correlation was confirmed. The occurrence of (maternal) germline mosaicism was proven. (Source: Journal of Medical Genetics)

A cohort study of recurrence patterns among more than 54 000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance

Journal of Medical Genetics — Fri, 19 Mar 2010 17:53:07 +0100

Conclusions Anatomical severity does have an effect on recurrence in first degree relatives and the type of cleft is predictive of the recurrence type. Highly reliable estimates of recurrence have been provided for first cousins in addition to more accurate estimates for first and second degree relatives. These results and the majority of prior data continue to support a multifactorial threshold model of inheritance. (Source: Journal of Medical Genetics)

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

Journal of Medical Genetics — Fri, 19 Mar 2010 17:53:07 +0100

Conclusions Interstitial 16p13.3 duplications have a recognizable phenotype, characterized by normal to moderately retarded mental development, normal growth, mild arthrogryposis, frequently small and proximally implanted thumbs and characteristic facial features. Occasionally, developmental defects of the heart, genitalia, palate or the eyes are observed. The frequent de novo occurrence of 16p13.3 duplications demonstrates the reduced reproductive fitness associated with this genotype. Inheritance of the duplication from a clinically normal parent in two cases indicates that the associated phenotype is incompletely penetrant. (Source: Journal of Medical Genetics)

Epigenetic signatures of Silver-Russell syndrome

Journal of Medical Genetics — Fri, 19 Mar 2010 17:53:07 +0100

(Source: Journal of Medical Genetics)

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

Small-molecule signal-transduction inhibitors: targeted therapeutic agents for single-gene disorders

Journal of Medical Genetics — Fri, 19 Mar 2010 17:53:07 +0100

Mutations affecting over 2000 of the 20 000 or so genes in the human genome have been linked so far to specific inherited diseases, most of which are rare and have been poorly understood. Many of the genes involved encode components of intracellular signalling pathways that regulate processes such as the growth, proliferation, differentiation and survival or programmed death of cells during development and the maintenance of tissues and organs. Mutations that change the function of genes encoding signalling proteins thereby cause disorders ranging from birth defects to cancer. For Mendelian disorders, the essentially causal relationship between mutation and disease may present direct opportunities to therapeutically manipulate intracellular signalling. Here, we review recent examples of th...

'Junk' DNA gets credit for making us who we are

New Scientist - Genetics — Fri, 19 Mar 2010 16:19:41 +0100

We are finally pinning down how much differences in non-coding DNA, which doesn't produce proteins, shape our individual traits and disease risks (Source: New Scientist - Genetics)

Genome assembly quality: Assessment and improvement using the neutral indel model [METHOD]

Genome Research — Fri, 19 Mar 2010 15:28:19 +0100

We describe a statistical and comparative-genomic approach for quantifying error rates of genome sequence assemblies. The method exploits not substitutions but the pattern of insertions and deletions (indels) in genome-scale alignments for closely related species. Using two- or three-way alignments, the approach estimates the amount of aligned sequence containing clusters of nucleotides that were wrongly inserted or deleted during sequencing or assembly. Thus, the method is well-suited to assessing fine-scale sequence quality within single assemblies, between different assemblies of a single set of reads, and between genome assemblies for different species. When applying this approach to four primate genome assemblies, we found that average gap error rates per base varied considerably, by ...

Deep RNA sequencing at single base-pair resolution reveals high complexity of the rice transcriptome [RESEARCH]

Genome Research — Fri, 19 Mar 2010 15:28:18 +0100

Understanding the dynamics of eukaryotic transcriptome is essential for studying the complexity of transcriptional regulation and its impact on phenotype. However, comprehensive studies of transcriptomes at single base resolution are rare, even for modern organisms, and lacking for rice. Here, we present the first transcriptome atlas for eight organs of cultivated rice. Using high-throughput paired-end RNA-seq, we unambiguously detected transcripts expressing at an extremely low level, as well as a substantial number of novel transcripts, exons, and untranslated regions. An analysis of alternative splicing in the rice transcriptome revealed that alternative cis-splicing occurred in ~33% of all rice genes. This is far more than previously reported. In addition, we also identified 234 putati...

Stanford Study: What Makes You Unique? Not Genes So Much As Surrounding Sequences

Genetics News From Medical News Today — Fri, 19 Mar 2010 12:00:00 +0100

The key to human individuality may lie not in our genes, but in the sequences that surround and control them, according to new research by scientists at the Stanford University School of Medicine and Yale University... (Source: Genetics News From Medical News Today)

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

What Makes Us Unique? Not Only Our Genes

Genetics News From Medical News Today — Fri, 19 Mar 2010 09:00:00 +0100

Once the human genome was sequenced in 2001, the hunt was on for the genes that make each of us unique. But scientists at the European Molecular Biology Laboratory (EMBL) in Heidelberg, Germany, and Yale and Stanford Universities in the USA, have found that we differ from each other mainly because of differences not in our genes, but in how they're regulated turned on or off, for instance... (Source: Genetics News From Medical News Today)

Discovery Of Switch Mechanism For Controlling Traffic In Cells

Genetics News From Medical News Today — Fri, 19 Mar 2010 07:00:00 +0100

Scientists have identified a mechanism that switches on an extremely important process for the proper functioning and survival of our body's cells. Specifically, the fast-track transportation pathway of 'cargo' to and from the surface of the cell... (Source: Genetics News From Medical News Today)

DNA Nanotechnology Breakthrough Offers Promising Applications In Medicine

Genetics News From Medical News Today — Fri, 19 Mar 2010 07:00:00 +0100

A team of McGill Chemistry Department researchers led by Dr. Hanadi Sleiman has achieved a major breakthrough in the development of nanotubes - tiny "magic bullets" that could one day deliver drugs to specific diseased cells. Sleiman explains that the research involves taking DNA out of its biological context... (Source: Genetics News From Medical News Today)

51st Annual Drosophila Research Conference From The Genetics Society Of America

Genetics News From Medical News Today — Fri, 19 Mar 2010 07:00:00 +0100

More than 1600 basic research scientists who study genetic models in Drosophila (fruit flies) are expected to attend the 51st Annual Drosophila Research Conference in Washington, DC, April 7-11, 2010. SCIENTIFIC PROGRAMFor the complete program and Schedule of Events, see http://www.drosophila-conf.org/cgi-bin/dros10-cgi/drosSOE.pl... (Source: Genetics News From Medical News Today)

Interference of CD40L-Mediated Tumor Immunotherapy by Oncolytic Vesicular Stomatitis Virus

Human Gene Therapy — Fri, 19 Mar 2010 03:03:54 +0100

Human Gene Therapy , Vol. 0, No. 0. (Source: Human Gene Therapy)

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

Preface.

Fri, 19 Mar 2010 00:16:03 +0100

Authors: Olmo E PMID: 20234153 [PubMed - in process] (Source: Sexual Development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation)

A Review of Sex Determining Mechanisms in Geckos (Gekkota: Squamata).

Fri, 19 Mar 2010 00:16:03 +0100

Authors: Gamble T Geckos are a species-rich clade of reptiles possessing diverse sex determining mechanisms. Some species possess genetic sex determination, with both male and female heterogamety, while other species have temperature-dependent sex determination. I compiled information from the literature on the taxonomic distribution of these sex determining mechanisms in geckos. Using phylogenetic data from the literature, I reconstructed the minimum number of transitions among these sex determining mechanisms with parsimony-based ancestral state reconstruction. While only a small number of gecko species have been characterized, numerous changes among sex determining mechanisms were inferred. This diversity, coupled with the high frequency of transitions, makes geckos excellent candid...

Differential DMRT1 Expression in the Gonads of Podarcis sicula (Reptilia: Lacertidae).

Fri, 19 Mar 2010 00:16:03 +0100

Authors: Capriglione T, Vaccaro MC, Morescalchi MA, Tammaro S, De Iorio S DMRT genes encode a large family of transcription factors which share an unusual cysteine-rich DNA-binding motif, the DM domain. DM family members have been studied in the context of sexual development; in particular, the DMRT1 gene appeared to be the one most directly involved in sex determination, but its activity is largely unexplored and possible downstream targets of this factor have yet to be identified. DMRT1 of the lacertid lizard Podarcis sicula (PsDMRT1) was isolated as a model to study differential gene expression during the seasonal reproductive cycle of an ectothermal species. The adult testis of P. sicula exhibits full activity in spring, complete regression in summer and a slow autumnal recrudescen...

Does Parental Education have a Moderating Effect on the Genetic and Environmental Influences of General Cognitive Ability in Early Adulthood?

Behavior Genetics — Fri, 19 Mar 2010 00:00:00 +0100

Authors: Grant MD, Kremen WS, Jacobson KC, Franz C, Xian H, Eisen SA, Toomey R, Murray RE, Lyons MJ Hereditary influences account for a substantial proportion of the variance in many cognitive abilities. However, there is increasing recognition that the relative importance of genetic and environmental influences may vary across different socioeconomic levels. The overall goal of the present study was to examine whether parental education has a moderating effect on genetic and environmental influences of general cognitive ability in early adulthood (age 19.6 +/- 1.5). Participants were 5,955 male twins from the Vietnam Era Twin (VET) Registry. Significant effects of parental education on mean level of general cognitive ability scores were found, but a model without moderating effects of...

Antimicrobial peptide-like genes in Nasonia vitripennis: a genomic perspective

BMC Genomics - Latest articles — Fri, 19 Mar 2010 00:00:00 +0100

Conclusion: The present study established the N. vitripennis peptidome associated with antimicrobial immunity by using a combined computational and experimental strategy. As the first AMP repertoire of a parasitic wasp, our results offer a basic platform for further studying the immunological and evolutionary significances of these newly discovered AMP-like genes in this class of insects. (Source: BMC Genomics - Latest articles)

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

Genetic evidence supports linguistic affinity of Mlabri -- a hunter-gatherer group in Thailand

BMC Genetics - Latest articles — Fri, 19 Mar 2010 00:00:00 +0100

Conclusion: Our results strongly suggested that the Mlabri share more recent common ancestry with the Htin. We thus provided, to our knowledge, the first genetic evidence that supports the linguistic affinity of Mlabri, and this association between linguistic and genetic classifications could reflect the same past population processes. (Source: BMC Genetics - Latest articles)

Parental Genome Dosage Imbalance Deregulates Imprinting in Arabidopsis

PLoS Genetics — Fri, 19 Mar 2010 00:00:00 +0100

Author Summary In mammals and plants, imprinted genes are expressed preferentially by the copy inherited from either the mother or the father. In plants genome dosage is easily manipulated using tetraploid plants that contain twice the genome dosage of the natural diploid plants. The increased maternal dosage reduces seed size while increased paternal dosage has the opposite effect. It was further proposed that parental genomic imbalances are directly mirrored by antagonistic regulations of imprinted genes encoding maternal growth inhibitors and paternal growth enhancers. However these hypotheses were never tested directly. We measured the expression of imprinted genes and their regulators, in crosses between diploid and tetraploid Arabidopsis plants. Surprisingly, parental dosage imbalan...

Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform

PLoS Genetics — Fri, 19 Mar 2010 00:00:00 +0100

In this study we utilized two model systems, the zebrafish and mouse, to evaluate the function of a specific form of BBS (BBS3). We have identified a novel protein product of the BBS3 gene and demonstrated that functional and structural abnormalities of the eye occur when this form of BBS3 is absent. This finding is of significance because it indicates that BBS3 mutations can lead to non-syndromic blindness, as well as blindness associated with other clinical features. This work also indicates that treatment of BBS3 blindness will require replacement of a specific form of the BBS3 gene. (Source: PLoS Genetics)

Multiple Signals Converge on a Differentiation MAPK Pathway

PLoS Genetics — Fri, 19 Mar 2010 00:00:00 +0100

Author Summary Signal integration is an essential feature of information flow through signal transduction pathways. The mechanisms by which signals from multiple pathways become integrated into a coordinated response remain unclear. We show that multiple pathways that regulate filamentous growth converge on a differentiation-dependent MAPK pathway. Our findings indicate that more extensive communication occurs between signaling pathways that control the filamentation response than has previously been appreciated. We suggest that global communication hierarchies regulate information flow in other systems, particularly higher eukaryotes where multiple pathways typically function simultaneously to modulate a complex response. (Source: PLoS Genetics)

HAP2(GCS1)-Dependent Gamete Fusion Requires a Positively Charged Carboxy-Terminal Domain

PLoS Genetics — Fri, 19 Mar 2010 00:00:00 +0100

Author Summary Recent studies suggest that HAP2(GCS1) is a deeply conserved protein required for gamete membrane fusion, a critical yet poorly understood step in sexual reproduction. HAP2(GCS1) is present in many plant, protist, and animal genomes, and has been shown to be essential for fertilization in Arabidopsis, Chlamydomonas, and Plasmodium. The loss-of-function phenotype in Chlamydomonas suggests a direct role in gamete plasma membrane fusion. HAP2(GCS1) has no known functional domains, making it difficult to predict how it contributes to gamete fusion. We set out to map the critical features of this protein by testing a series of deletions, substitutions, and interspecific chimeras for their ability to rescue the hap2-1 fertilization defect in Arabidopsis. We found that the N-termi...

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

Regulation of Lifespan, Metabolism, and Stress Responses by the Drosophila SH2B Protein, Lnk

PLoS Genetics — Fri, 19 Mar 2010 00:00:00 +0100

In this study, we show that Lnk is also required to determine normal lifespan in Drosophila, as mutations that disrupt Lnk activity result in increased lifespan. In addition, these mutants show improved survival under conditions of stress and metabolic disregulation. Furthermore, we show that the expression of Lnk is regulated by the IIS responsive transcription factor, dFoxo. Our data therefore provide new mechanistic insights into the role of the IIS pathway in ageing. (Source: PLoS Genetics)

The First Cytogenetic Map of the Tuatara, Sphenodon punctatus

Cytogenetic and Genome Research — Thu, 18 Mar 2010 23:00:00 +0100

Cytogenet Genome Res (DOI:10.1159/000300099) (Source: Cytogenetic and Genome Research)

Genome of the Fresh Water Polyp Hydra Sequenced

NHGRI-Related News — Thu, 18 Mar 2010 17:00:00 +0100

: The genome of the fresh water polyp Hydra, which has played a key role as a model organism in modern evolutionary and developmental biology, has been sequenced by an international consortium of American, German, Austrian and Japanese scientists. The genome sequence provides a glimpse into the common evolutionary history of animals and humans. Scientists at the Ludwig-Maximilians-Universit�t (LMU) in Munich, and universities in Kiel, Heidelberg, Vienna and Innsbruck contributed to the project, which was published online in Nature on March 14, 2010. NHGRI helped fund the research. (Source: NHGRI-Related News)

NHGRI Launches Genomic Careers Resource for Students

NHGRI Press Releases — Thu, 18 Mar 2010 16:03:14 +0100

To help students planning their professional careers understand the opportunities in the fields of genetics and genomics, the National Human Genome Research Institute (NHGRI) launches the Genomic Careers Resource on the institute's Web site, genome.gov. The careers resource showcases nearly 50 career opportunities through video interviews, career profiles, tools to rate potential career choices, and an interactive game. (Source: NHGRI Press Releases)

Cancer Genetics and Cytogenetics — Thu, 18 Mar 2010 16:03:07 +0100

(Source: Cancer Genetics and Cytogenetics)

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

Erratum

Cancer Genetics and Cytogenetics — Thu, 18 Mar 2010 16:03:07 +0100

Wayne Yu, Yasmine Kanaan, Young-Kyung Baed, Edward Gabrielson. Chromosomal changes in aggressive breast cancers with basal-like features. Cancer Genet Cytogenet 2009;193:29-37. (Source: Cancer Genetics and Cytogenetics)

Erratum

Cancer Genetics and Cytogenetics — Thu, 18 Mar 2010 16:03:07 +0100

Aleksandra Drago Krstic, Luciana Impera, Marija Guc-Scekic, Nina Lakic, Dragan Djokic, Bojana Slavkovic, Clelia Tiziana Storlazzi. A complex rearrangement involving cryptic deletion of ETV6 and CDKN1B genes in a case of childhood acute lymphoblastic leukemia. Cancer Genet Cytogenet 2009;195:125-31. (Source: Cancer Genetics and Cytogenetics)

Detection of cryptic and variant IGH-MYC rearrangements in high-grade non-Hodgkin's lymphoma by fluorescence in situ hybridization: implications for cytogenetic testing

Cancer Genetics and Cytogenetics — Thu, 18 Mar 2010 16:03:07 +0100

We describe three cases of high-grade lymphoma in which cryptic insertion events, resulting in clinically significant IGH-MYC rearrangements, were detectable using an IGH/MYC three-color, dual-fusion fluorescence in situ hybridization (FISH) probe set, but were not detected using break-apart MYC FISH probes, thus highlighting the limitations of using break-apart probes as a stand-alone test, particularly with the increased use of interphase FISH analysis of formalin-fixed, paraffin-embedded tissue sections in the diagnostic work-up of these patients. (Source: Cancer Genetics and Cytogenetics)

Translocation (6;13)(p21;q14.1) as a rare nonrandom cytogenetic abnormality in chronic lymphocytic leukemia

Cancer Genetics and Cytogenetics — Thu, 18 Mar 2010 16:03:07 +0100

We present here a novel conventional and molecular cytogenetic study of a CLL patient with t(6;13)(p21;q14.1), a rare chromosomal aberration. The findings contribute to the identification of rare recurrent aberrations and of any prognostic effect in CLL that could be used for prognostic and therapeutic purposes. The present study demonstrates that t(6;13)(p21;q14.1) as a secondary event to the interstitial deletion in 13q14 region, resulting in the loss of RB1, is a rare but nonrandom abnormality in CLL, resistant to the current treatment CLL protocols with a rather favorable or intermediate prognosis but definitely not an adverse prognosis. Further studies in more CLL patients are required to delineate the prognostic value of t(6;13)(p21;q14.1) and to identify any candidate genes with pot...

Segmental amplification of MLL gene associated with high expression of AURKA and AURKB genes in a case of acute monoblastic leukemia with complex karyotype

Cancer Genetics and Cytogenetics — Thu, 18 Mar 2010 16:03:07 +0100

We report a case of acute monoblastic leukemia showing a jumping translocation with the MLL gene in a 17-year-old male. Classic cytogenetic and spectral karyotyping revealed a complex karyotype, and fluorescence in situ hybridization (FISH) demonstrated amplification of the MLL gene followed by translocation to chromosomes 15q, 17q, and 19q. In addition, molecular analyses showed a high expression of AURKA and AURKB genes. It is already known that overexpression of Aurora kinases is associated with chromosomal instability and poor prognosis. The formation of jumping translocations is a rare cytogenetic event and there is evidence pointing toward preferential involvement of the heterochromatin region of donor chromosomes and the telomere ends of recipient chromosomes. Jumping translocation ...

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

Prognostic and predictive value of 16p12.1 and 16q22.1 copy number changes in human breast cancer

Cancer Genetics and Cytogenetics — Thu, 18 Mar 2010 16:03:07 +0100

Abstract: The present study investigated DNA copy number changes mapping to the p and q arms of chromosome 16 in breast cancer with the goal to determine their potential in identifying breast cancer patients with poor prognosis. We identified the minimal overlapping regions on chromosome 16 that are commonly deleted and amplified in breast tumors. Fluorescence in situ hybridization was used to screen a custom-made breast carcinoma tissue microarray representing all tumor grades, in order to detect DNA copy number changes mapping to 16p12.1 and 16q22.1. We generated 16q/16p ratios for each patient and examined the correlation between DNA copy number alterations and the patients' clinical and pathological parameters. We observed lower q/p ratios in grade I invasive carcinomas, compared with ...

High chromosomal instability in brain metastases of colorectal carcinoma

Cancer Genetics and Cytogenetics — Thu, 18 Mar 2010 16:03:06 +0100

Abstract: Information on structural chromosomal changes in brain metastases (BM) of colorectal carcinoma (CRC) is very limited. Therapeutic and diagnostic strategies to reduce the risk of BM have potential impact on cancer mortality. By using comparative genomic hybridization, the primary CRC of 11 patients and their corresponding 13 BM were analyzed. BM showed significantly more mean chromosomal aberrations than the primary CRC (13.6±2.1 vs. 7.9±1.9, P=0.03), significantly more chromosomal gains (7.2±0.9 vs. 3.5±0.9, P=0.01), and tended to have also more losses (6.1±1.4 vs. 4.0±1.1, P=0.29). Changes that occurred significantly more often in BM than in primary CRC were gains of 8q, 12p, 12q, and 20p, as well as losses of 5q. BM of CRC show a significantly higher chromosomal instabili...

Glutathione-S-transferase genotypes influence the risk of chemotherapy-related toxicities and prognosis in Korean patients with diffuse large B-cell lymphoma

Cancer Genetics and Cytogenetics — Thu, 18 Mar 2010 16:03:06 +0100

This study suggests that GSTT1 deletion may significantly increase the risk of drug-related toxicity after R-CHOP chemotherapy in patients with DLBCL, and is associated with worse prognosis in males. (Source: Cancer Genetics and Cytogenetics)

KRAS and BRAF mutations in prostate carcinomas of Chinese patients

Cancer Genetics and Cytogenetics — Thu, 18 Mar 2010 16:03:06 +0100

In this study, we examined 121 samples of prostate carcinoma in Chinese subjects for mutations at codons 12 and 13 of KRAS and codon 600 of BRAF by means of the mutant-enriched polymerase chain reaction–coupled sequencing method. The identified KRAS and BRAF mutations were analyzed for association with tumor differentiation and clinical stage. The result showed that KRAS mutations were detected in 9.1% (11 of 121) of prostate carcinomas, while no BRAF mutation was found in any case studied. No association was found between KRAS mutation and clinicopathological characteristics of the tumors. Our study suggests that mutations of KRAS, not BRAF, may play a role in the pathogenesis of prostate carcinoma in Chinese patients. (Source: Cancer Genetics and Cytogenetics)

Genomic alterations of chromosome region 11p as predictive marker by array comparative genomic hybridization in lung adenocarcinoma patients

Cancer Genetics and Cytogenetics — Thu, 18 Mar 2010 16:03:04 +0100

In this study, we used aCGH to compare genomic alterations in fresh-frozen lung cancer tissues of 21 adenocarcinomas (AdCCs) (11 early relapse and 10 nonrelapse) and identified genomic alterations that showed significant by different frequency between early relapse and nonrelapse AdCCs. Twelve clones were identified by the false discovery rate (FDR) test, and Kaplan-Meier analyses were selected as predictive markers. The significant gain clones were found in 11p (11p15.4, 11p15.1, and 11p13). When the cutoff value was 2, study of the association between candidate clones and relapse prediction revealed that early relapse and nonrelapse groups were most effectively separated. To further validate the gain of chromosome 11p region that was identified by array CGH, fluorescence in situ hybridiz...

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

Association of angiotensin converting enzyme gene insertion/deletion polymorphism with lung cancer in Turkey

Cancer Genetics and Cytogenetics — Thu, 18 Mar 2010 16:03:04 +0100

Abstract: Angiotensin-converting enzyme (ACE) plays an important role in the physiological control of blood pressure and inflammation. We investigated an insertion/deletion (I/D) polymorphism of the gene for ACE in relation to cardiovascular, cerebrovascular, neurodegenerative, and inflammatory diseases. The purpose of the present study was to investigate a possible association between lung cancer and insertion/deletion polymorphism of the ACE gene. A total of 125 patients with lung cancer and 165 control subjects were enrolled in the present study. ACE I/D genotypes were determined by polymerase chain reaction. Allelic frequencies and genotype distribution of the ACE I/D polymorphism in the patient group were significantly different from control subjects (ACE II genotype 29.6 vs. 17.6%, P...

The A61G EGF polymorphism is associated with development of extraaxial nervous system tumors but not with overall survival

Cancer Genetics and Cytogenetics — Thu, 18 Mar 2010 16:03:03 +0100

Abstract: Epidermal growth factor can activate several signaling pathways, leading to proliferation, differentiation, and tumorigenesis of epithelial tissues by binding with its receptor. The EGF protein is involved in nervous system development, and polymorphisms in the EGF gene on chromosome band 4q25 are associated with brain cancers. The purpose of this study was to investigate the association between the single-nucleotide polymorphism of EGF+61G/A and extraaxial brain tumors in a population of the southeast of Brazil. We analyzed the genotype distribution of this polymorphism in 90 patients and 100 healthy subjects, using the polymerase chain reaction–restriction fragment length polymorphism technique. Comparison of genotype distribution revealed a significant difference between pat...

VEGFA + 936C>T polymorphism and cancer risk: a meta-analysis

Cancer Genetics and Cytogenetics — Thu, 18 Mar 2010 16:03:03 +0100

Abstract: Vascular endothelial growth factor A (VEGF-A), a major driver of physiological and pathological angiogenesis, plays important roles in the etiology and metastasis of cancers. The +936C>T polymorphism in the 3′-untranslated region of the VEGFA gene has been implicated in cancer risk and is related to VEGF-A protein production; however, published data have been conflicting. To derive a more precise estimation of the relationship, a meta-analysis was performed of 13,293 cancer cases and 12,308 control subjects from 29 published case–control studies. Odds ratios (ORs) with 95% confidence intervals (CIs) were estimated to assess the association between +936C>T polymorphism and cancer risk. The meta-analysis indicated that individuals with the +936 T had increased risk of oral canc...

Oligonucleotide array outperforms SNP array on formalin-fixed paraffin-embedded clinical samples

Cancer Genetics and Cytogenetics — Thu, 18 Mar 2010 16:03:03 +0100

This study demonstrates that Agilent oligonucleotide array comparative genomic hybridization generates reliable results from FFPE extracted DNA, whereas the Affymetrix SNP-based array seems less suitable for the analysis of FFPE material. (Source: Cancer Genetics and Cytogenetics)

Editorial Board

Cancer Genetics and Cytogenetics — Thu, 18 Mar 2010 16:03:03 +0100

(Source: Cancer Genetics and Cytogenetics)

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

Chromatin structure and the inheritance of epigenetic information

Nature Reviews Genetics — Thu, 18 Mar 2010 16:01:54 +0100

Authors: Raphaël Margueron & Danny Reinberg Although it is widely accepted that the regulation of the chromatin landscape is pivotal to conveying the epigenetic program, it is still unclear how a defined chromatin domain is reproduced following DNA replication and transmitted from one cell generation to the next. Here, we review (Source: Nature Reviews Genetics)

Genome-wide association studies in pharmacogenomics

Nature Reviews Genetics — Thu, 18 Mar 2010 16:01:54 +0100

Nature Reviews Genetics 11, 241 (2010). doi:10.1038/nrg2751 Author: Ann K. Daly Genome-wide association (GWA) studies for pharmacogenomics-related traits are increasingly being performed to identify loci that affect either drug response or susceptibility to adverse drug reactions. Until now, only the largest effects have been detected, partly because of the challenges of obtaining large numbers of cases (Source: Nature Reviews Genetics)

Population genetics: Reactive resistance

Nature Reviews Genetics — Thu, 18 Mar 2010 16:01:54 +0100

Nature Reviews Genetics 11, 240 (2010). doi:10.1038/nrg2769 Author: Sheilagh Molloy Treatment of bacteria with low concentrations of bactericidal antibiotics can generate multidrug resistance through an increase in the mutation rate that is driven by the formation of reactive oxygen species (ROS), according to a report from Mike Kohanski, Mark DePristo and Jim Collins in a (Source: Nature Reviews Genetics)

In Brief

Nature Reviews Genetics — Thu, 18 Mar 2010 16:01:54 +0100

Nature Reviews Genetics 11, 239 (2010). doi:10.1038/nrg2773 Network biologyNoise can induce bimodality in positive transcriptional feedback loops without bistabilityTo, T.-L. & Maheshri, N.Science327, 1142–1145 (2010)Traditional models of transcription assume that bimodal patterns of gene expression result from cooperative interactions (Source: Nature Reviews Genetics)

Systems biology: Mutations that rock the boat

Nature Reviews Genetics — Thu, 18 Mar 2010 16:01:54 +0100

Nature Reviews Genetics 11, 238 (2010). doi:10.1038/nrg2771 Author: Tanita Casci The phenomenon of incomplete penetrance — whereby organisms with genetically identical alleles can develop distinct phenotypes — has been known for 80 years, and several mechanisms have been proposed to explain it. A paper now provides a quantitative description of the effect of an incompletely (Source: Nature Reviews Genetics)

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

Human microbiome: A gut feeling for disease

Nature Reviews Genetics — Thu, 18 Mar 2010 16:01:54 +0100

Nature Reviews Genetics 11, 237 (2010). doi:10.1038/nrg2767 Author: Louisa Flintoft Three studies showcase the growing interest in using genetics and genomics to understand how the huge numbers of bacteria that live in human guts influence our biology. The largest metagenomic survey so far of human gut microbial genes sets the scene for comparing gut microbiome (Source: Nature Reviews Genetics)

From the editors

Nature Reviews Genetics — Thu, 18 Mar 2010 16:01:54 +0100

Nature Reviews Genetics 11, 235 (2010). doi:10.1038/nrg2780 Towards models of disease pathogenesis from diverse genetic causes. (Source: Nature Reviews Genetics)

Comparison of the DNA methylation profiles of human peripheral blood cells and transformed B-lymphocytes

Human Genetics — Thu, 18 Mar 2010 15:24:46 +0100

Abstract Epidemiological studies of DNA methylation (DNAm) profiles may hold substantial promise for identifying mechanisms through which genetic and environmental factors jointly contribute to disease risk. Different cell types are likely to have different DNAm patterns. We investigate the DNAm differences between two types of biospecimens available in many genetic epidemiology studies. We compared DNAm patterns in two different DNA samples from each of 34 participants in the Genetic Epidemiology Network of Arteriopathy study (20 Caucasians and 14 African-Americans). One was extracted from peripheral blood cells (PBC) and the other from transformed B-lymphocytes (TBL). The genome-wide DNAm profiles were compared at over 27,000 genome-wide methylation sites. We found that ...

Ethnic diversity of DNA methylation in the OPRM1 promoter region in lymphocytes of heroin addicts

Human Genetics — Thu, 18 Mar 2010 14:14:04 +0100

Abstract The μ-opioid receptor is the site of action of many endogenous opioids as well as opiates. We hypothesize that differences in DNA methylation of specific CpG dinucleotides between former severe heroin addicts in methadone maintenance treatment and control subjects will depend, in part, upon ethnicity. DNA methylation analysis of the μ-opioid receptor gene (OPRM1) promoter region was performed on African-Americans (118 cases, 80 controls) and Hispanics (142 cases, 61 controls) and these were compared with a similar Caucasian cohort from our earlier study. In controls, a higher methylation level was found in the African-Americans compared with the Hispanics or Caucasians. Significant experiment-wise differences in methylation levels were found at the −25 and +12 ...

GenVault Provides GenTegra(TM) DNA To Support Cardiovascular Genetic Testing At Berkeley HeartLab

Genetics News From Medical News Today — Thu, 18 Mar 2010 11:00:00 +0100

GenVault Corporation announced that Berkeley HeartLab, a subsidiary of Celera Corporation (Nasdaq: CRA), has adopted GenTegra DNA to preserve and store diagnostic samples for genetic testing related to the management of cardiovascular disease... (Source: Genetics News From Medical News Today)

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

Future Prospects and Challenges of Antiangiogenic Cancer Gene Therapy

Human Gene Therapy — Thu, 18 Mar 2010 03:40:14 +0100

Human Gene Therapy , Vol. 0, No. 0. (Source: Human Gene Therapy)

Cardiac Gene Therapy: Optimization of Gene Delivery Techniques In Vivo

Human Gene Therapy — Thu, 18 Mar 2010 03:29:06 +0100

Human Gene Therapy , Vol. 0, No. 0. (Source: Human Gene Therapy)

HLA: a pharmacogenomics success story

Future Medicine: Pharmacogenomics — Thu, 18 Mar 2010 03:00:44 +0100

Pharmacogenomics , March 2010, Vol. 11, No. 3, Pages 277-281. (Source: Future Medicine: Pharmacogenomics)

Genetic and Environmental Influences on Cortisol Regulation Across Days and Contexts in Middle-Aged Men.

Behavior Genetics — Thu, 18 Mar 2010 00:00:00 +0100

Authors: Franz CE, York TP, Eaves LJ, Mendoza SP, Hauger RL, Hellhammer DH, Jacobson KC, Levine S, Lupien SJ, Lyons MJ, Prom-Wormley E, Xian H, Kremen WS Cortisol is an indicator of hypothalamic-pituitary-adrenal axis responsivity to stress, but few twin studies have examined the heritability of cortisol concentrations in adults across the diurnal cycle and in different contexts. Saliva samples were provided by 783 middle-aged male twins on one laboratory and two home days as part of the Vietnam Era Twin Study of Aging. Significant cortisol heritability estimates were found for laboratory measures only: awakening (.56); 30 min after awakening (.48); 1000 h (.42); mean output across the day (.43); and mean cortisol awakening response (.64). Twin correlations at home were low. In the lab...

EEG alpha phenotypes: linkage analysis and relation to alcohol dependence in an American Indian community study

BMC Medical Genetics - Latest articles — Thu, 18 Mar 2010 00:00:00 +0100

Conclusion: These results corroborate the importance of regions on chromosome 4 and 6 highlighted in prior segregation studies in this and other populations for alcohol dependence-related phenotypes, as well as other areas that overlap with other substance dependence phenotypes identified in previous linkage studies in other populations. These studies additionally support the construct that EEG alpha recorded from fronto-central scalp areas may represent an important endophenotype associated with alcohol and other substance dependence. (Source: BMC Medical Genetics - Latest articles)

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

wDBTF: an integrated database resource for studying wheat transcription factor families

BMC Genomics - Latest articles — Thu, 18 Mar 2010 00:00:00 +0100

Conclusions: wDBTF collates 3,820 wheat TF sequences validated by the presence of a DNA-binding domain out of 7,112 potential TF sequences identified from publicly available gene expression data. We also incorporated in silico expression data on these TFs into the database. Thus this database provides a major resource for systematic studies of TF families and their expression in wheat as illustrated here in a study of DOF family members expressed during seed development. (Source: BMC Genomics - Latest articles)

Differential expression of genes in salivary glands of male Rhipicephalus (Boophilus) microplus in response to infection with Anaplasma marginale

BMC Genomics - Latest articles — Thu, 18 Mar 2010 00:00:00 +0100

Conclusions: Characterization of differential gene expression in salivary glands of R. microplus in response to A. marginale infection expands our understanding of the molecular mechanisms at the tick-pathogen interface. Functional studies suggested that differentially expressed genes encoding for subolesin, putative von Willebrand factor and flagelliform silk protein could play a role in A. marginale infection and multiplication in ticks. These tick genes found to be functionally relevant for tick-pathogen interactions will likely be candidates for development of vaccines designed for control of both ticks and tick-borne pathogens. (Source: BMC Genomics - Latest articles)

Synteny mapping between common bean and soybean reveals extensive blocks of shared loci

BMC Genomics - Latest articles — Thu, 18 Mar 2010 00:00:00 +0100

Conclusion: The collected evidence from this mapping strongly supports the duplicate history of soybean. It further provides evidence that the soybean genome was fractionated and reassembled at some point following the duplication event. These well mapped syntentic relationships between common bean and soybean will enable researchers to target specific genomic regions to discover genes or loci that affect phenotypic expression in both species. (Source: BMC Genomics - Latest articles)

Indirect imaging of cardiac-specific transgene expression using a bidirectional two-step transcriptional amplification strategy

Gene Therapy — Thu, 18 Mar 2010 00:00:00 +0100

Authors: I Y Chen, O Gheysens, S Ray, Q Wang, P Padmanabhan, R Paulmurugan, A M Loening, M Rodriguez-Porcel, J K Willmann, A Y Sheikh, C H Nielsen, G Hoyt, C H Contag, R C Robbins, S Biswal, J C Wu & S S Gambhir (Source: Gene Therapy)

Self-complementary AAV-mediated gene therapy restores cone function and prevents cone degeneration in two models of Rpe65 deficiency

Gene Therapy — Thu, 18 Mar 2010 00:00:00 +0100

Authors: J Pang, S E Boye, B Lei, S L Boye, D Everhart, R Ryals, Y Umino, B Rohrer, J Alexander, J Li, X Dai, Q Li, B Chang, R Barlow & W W Hauswirth (Source: Gene Therapy)

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

Feline leukemia virus integrase and capsid packaging functions do not change the insertion profile of standard Moloney retroviral vectors

Gene Therapy — Thu, 18 Mar 2010 00:00:00 +0100

Authors: J-Y Métais, S Topp, R T Doty, B Borate, A-D Nguyen, T G Wolfsberg, J L Abkowitz & C E Dunbar (Source: Gene Therapy)

Prolonged systemic circulation of chimeric oncolytic adenovirus Ad5/3-Cox2L-D24 in patients with metastatic and refractory solid tumors

Gene Therapy — Thu, 18 Mar 2010 00:00:00 +0100

Prolonged systemic circulation of chimeric oncolytic adenovirus Ad5/3-Cox2L-D24 in patients with metastatic and refractory solid tumors Gene Therapy advance online publication, March 18, 2010. doi:10.1038/gt.2010.17 Authors: S Pesonen, P Nokisalmi, S Escutenaire, M Särkioja, M Raki, V Cerullo, L Kangasniemi, L Laasonen, C Ribacka, K Guse, E Haavisto, M Oksanen, M Rajecki, A Helminen, A Ristimäki, A Karioja-Kallio, E Karli, T Kantola, G Bauerschmitz, A Kanerva, T Joensuu & A Hemminki (Source: Gene Therapy)

New genetic associations detected in a host response study to hepatitis B vaccine

Genes and Immunity — Thu, 18 Mar 2010 00:00:00 +0100

Authors: S Davila, F E M Froeling, A Tan, C Bonnard, G J Boland, H Snippe, M L Hibberd & M Seielstad (Source: Genes and Immunity)

Temporal lobe grey matter volume in schizophrenia is associated with a genetic polymorphism influencing glycogen synthase kinase 3-β activity

Genes, Brain and Behavior — Thu, 18 Mar 2010 00:00:00 +0100

At the crossroad of multiple pathways regulating trophism and metabolism, glycogen synthase kinase (GSK)3 is considered a key factor in influencing the susceptibility of neurons to harmful stimuli (neuronal resilience) and is a target for several psychiatric drugs that directly inhibit it or increase its inhibitory phosphorylation. Inhibition of GSK3 prevents apoptosis and could protect against the neuropathological processes associated with psychiatric disorders. A GSK3-[beta]promoter single-nucleotide polymorphism (rs334558) influences transcriptional strength, and the less active form was associated with less detrimental clinical features of mood disorders. Here we studied the effect of rs334558 on grey matter volumes (voxel-based morphometry) of 57 patients affected by chronic schizoph...

DPPA4 modulates chromatin structure via association with DNA and core histone H3 in mouse embryonic stem cells

Genes to Cells — Thu, 18 Mar 2010 00:00:00 +0100

In this study, we performed fluorescence recovery after photobleaching (FRAP) analysis to examine the dynamics of DPPA4 in ES cells. FRAP analysis showed that the mobility of DPPA4 is similar to that of histone H1. In addition, biochemical analysis with purified proteins and immunoprecipitation analysis showed that DPPA4 directly binds to both DNA and core histone H3. The analysis using truncated proteins indicated that DPPA4 is associated with DNA via the N-terminal region and histone H3 via the C-terminal region. In vitro assembled chromatin showed resistance to micrococcal nuclease (MNase) digestion in the presence of DPPA4. Moreover, MNase assay and FRAP analysis with the truncated proteins implies that DPPA4 binding to both DNA and histone H3 is necessary for the chromatin structure r...

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

Retraction

Human Gene Therapy — Wed, 17 Mar 2010 20:39:54 +0100

Human Gene Therapy Mar 2010, Vol. 21, No. 3: 363-363. (Source: Human Gene Therapy)

Clinical Impact of Suicide Gene Therapy in Allogeneic Hematopoietic Stem Cell Transplantation

Human Gene Therapy — Wed, 17 Mar 2010 20:39:16 +0100

Human Gene Therapy Mar 2010, Vol. 21, No. 3: 241-250. (Source: Human Gene Therapy)

The Wire

Human Gene Therapy — Wed, 17 Mar 2010 20:36:33 +0100

Human Gene Therapy Mar 2010, Vol. 21, No. 3: 238-240. (Source: Human Gene Therapy)

Dogs likely originated in the Middle East, new genetic data indicate

NHGRI-Related News — Wed, 17 Mar 2010 17:00:00 +0100

: Dogs likely originated in the Middle East, not Asia or Europe, according to a new genetic analysis by an international team of scientists led by UCLA biologists. The research, funded by the National Science Foundation and the Searle Scholars Program, appeared March 17 in the advance online edition of the journal Nature. Among the co-authors on the Nature paper are a group of researchers from the National Human Genome Research Institute led by Senior Investigator Elaine Ostrander, Ph.D. (Source: NHGRI-Related News)

Theriogenology — Wed, 17 Mar 2010 16:04:52 +0100

(Source: Theriogenology)

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

Editorial Board

Theriogenology — Wed, 17 Mar 2010 16:04:51 +0100

(Source: Theriogenology)

News & Views in ... Pharmacogenomics

Future Medicine: Pharmacogenomics — Wed, 17 Mar 2010 15:08:30 +0100

Pharmacogenomics , March 2010, Vol. 11, No. 3, Pages 289-291. (Source: Future Medicine: Pharmacogenomics)

Preoperative survivin mRNA detection in peripheral blood is an independent predictor of outcome in esophageal carcinoma

Future Medicine: Pharmacogenomics — Wed, 17 Mar 2010 15:08:27 +0100

Pharmacogenomics , March 2010, Vol. 11, No. 3, Pages 341-347. (Source: Future Medicine: Pharmacogenomics)

Common risk allele in aromatic antiepileptic-drug induced Stevens–Johnson syndrome and toxic epidermal necrolysis in Han Chinese

Future Medicine: Pharmacogenomics — Wed, 17 Mar 2010 15:08:21 +0100

Pharmacogenomics , March 2010, Vol. 11, No. 3, Pages 349-356. (Source: Future Medicine: Pharmacogenomics)

Acknowledgements

Future Medicine: Pharmacogenomics — Wed, 17 Mar 2010 15:08:20 +0100

Pharmacogenomics , March 2010, Vol. 11, No. 3, Pages 467-467. (Source: Future Medicine: Pharmacogenomics)

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

An overview of the recent progress in irinotecan pharmacogenetics

Future Medicine: Pharmacogenomics — Wed, 17 Mar 2010 15:08:10 +0100

Pharmacogenomics , March 2010, Vol. 11, No. 3, Pages 391-406. (Source: Future Medicine: Pharmacogenomics)

Common sequence variants in pharmacodynamic and pharmacokinetic pathway-related genes conferring LDL cholesterol response to statins

Future Medicine: Pharmacogenomics — Wed, 17 Mar 2010 15:08:09 +0100

Pharmacogenomics , March 2010, Vol. 11, No. 3, Pages 309-317. (Source: Future Medicine: Pharmacogenomics)

Pharmacogenetic influences on mycophenolate therapy

Future Medicine: Pharmacogenomics — Wed, 17 Mar 2010 15:08:06 +0100

Pharmacogenomics , March 2010, Vol. 11, No. 3, Pages 369-390. (Source: Future Medicine: Pharmacogenomics)

Amelogenin-based sex identification as a strategy to control the identity of DNA samples in genetic association studies

Future Medicine: Pharmacogenomics — Wed, 17 Mar 2010 15:08:05 +0100

Pharmacogenomics , March 2010, Vol. 11, No. 3, Pages 449-457. (Source: Future Medicine: Pharmacogenomics)

Conference Scene: Lessons learned from the 5th Statistical Analysis Workshop of the Pharmacogenetics Research Network

Future Medicine: Pharmacogenomics — Wed, 17 Mar 2010 15:08:03 +0100

Pharmacogenomics , March 2010, Vol. 11, No. 3, Pages 297-303. (Source: Future Medicine: Pharmacogenomics)

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

Systems medicine: a real approach for future personalized oncology?

Future Medicine: Pharmacogenomics — Wed, 17 Mar 2010 15:08:01 +0100

Pharmacogenomics , March 2010, Vol. 11, No. 3, Pages 283-287. (Source: Future Medicine: Pharmacogenomics)

Conference Scene: The great debate: genome-wide association studies in pharmacogenetics research, good or bad?

Future Medicine: Pharmacogenomics — Wed, 17 Mar 2010 15:08:00 +0100

Pharmacogenomics , March 2010, Vol. 11, No. 3, Pages 305-308. (Source: Future Medicine: Pharmacogenomics)

Pharmacogenomics in the treatment of inflammatory bowel disease

Future Medicine: Pharmacogenomics — Wed, 17 Mar 2010 15:07:54 +0100

Pharmacogenomics , March 2010, Vol. 11, No. 3, Pages 421-437. (Source: Future Medicine: Pharmacogenomics)

Genome-wide association for smoking cessation success: participants in the Patch in Practice trial of nicotine replacement

Future Medicine: Pharmacogenomics — Wed, 17 Mar 2010 15:07:51 +0100

Pharmacogenomics , March 2010, Vol. 11, No. 3, Pages 357-367. (Source: Future Medicine: Pharmacogenomics)

Haplotypes of the adrenergic system predict the blood pressure response to β-blockers in women with essential hypertension

Future Medicine: Pharmacogenomics — Wed, 17 Mar 2010 15:07:48 +0100

Pharmacogenomics , March 2010, Vol. 11, No. 3, Pages 319-325. (Source: Future Medicine: Pharmacogenomics)

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

A current update on ADHD pharmacogenomics

Future Medicine: Pharmacogenomics — Wed, 17 Mar 2010 15:07:45 +0100

Pharmacogenomics , March 2010, Vol. 11, No. 3, Pages 407-419. (Source: Future Medicine: Pharmacogenomics)

Human lymphoblastoid cell line panels: novel tools for assessing shared drug pathways

Future Medicine: Pharmacogenomics — Wed, 17 Mar 2010 15:07:41 +0100

Pharmacogenomics , March 2010, Vol. 11, No. 3, Pages 327-340. (Source: Future Medicine: Pharmacogenomics)

Research Highlights

Future Medicine: Pharmacogenomics — Wed, 17 Mar 2010 15:07:37 +0100

Pharmacogenomics , March 2010, Vol. 11, No. 3, Pages 293-296. (Source: Future Medicine: Pharmacogenomics)

Proteogenomics of Pristionchus pacificus reveals distinct proteome structure of nematode models [RESEARCH]

Genome Research — Wed, 17 Mar 2010 14:44:35 +0100

Pristionchus pacificus is a nematode model organism whose genome has recently been sequenced. To refine the genome annotation we performed transcriptome and proteome analysis and gathered comprehensive experimental information on gene expression. Transcriptome analysis on a 454 Life Sciences (Roche) FLX platform generated >700,000 expressed sequence tags from two normalized EST libraries, whereas proteome analysis on an LTQ-Orbitrap mass spectrometer detected >27,000 non-redundant peptide sequences from >4000 proteins at sub-ppm mass accuracy and FDR<1%. Re-training of the SNAP gene prediction algorithm using the gene expression data led to a decrease in the number of previously predicted protein-coding genes from 29,000 to 24,000 and refinement of numerous gene models. The P. ...

Gene Expression-Based Prognostic Signatures In Lung Cancer Not Ready For Clinical Use

Genetics News From Medical News Today — Wed, 17 Mar 2010 12:00:00 +0100

A review of published articles on gene expression-based prognostic signatures in lung cancer revealed little evidence that any of the signatures are ready for clinical use. Serious problems in the design and analysis of the studies were also found. The review was published online March 16, 2010 in the Journal of the National Cancer Institute... (Source: Genetics News From Medical News Today)

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

Mammalian Regeneration Through A Single Gene Deletion Demonstrated By Wistar Scientists

Genetics News From Medical News Today — Wed, 17 Mar 2010 08:00:00 +0100

A quest that began over a decade ago with a chance observation has reached a milestone: the identification of a gene that may regulate regeneration in mammals. The absence of this single gene, called p21, confers a healing potential in mice long thought to have been lost through evolution and reserved for creatures like flatworms, sponges, and some species of salamander... (Source: Genetics News From Medical News Today)

Wednesday, March 31, 2010 -- Applying Electronic Research Tools to Improve Future Health Impact of Genomic Information

NHGRI Events — Wed, 17 Mar 2010 06:09:09 +0100

Associate Investigator Social and Behavioral Research Branch, NHGRI Special Seminar Host: Social and Behavioral Research Branch, 301-594-6788. (Source: NHGRI Events)

Spontaneous reversal of the developmental aging of normal human cells following transcriptional reprogramming

Future Medicine: Regenerative Medicine — Wed, 17 Mar 2010 03:00:48 +0100

Regenerative Medicine , Ahead of Print, Vol. 0, No. 0, Pages 1-19. (Source: Future Medicine: Regenerative Medicine)

Personalized cancer therapy coming of age: clinical highlights in 2009 and future directions

Future Medicine: Personalized Medicine — Wed, 17 Mar 2010 03:00:46 +0100

Personalized Medicine , March 2010, Vol. 7, No. 2, Pages 121-124. (Source: Future Medicine: Personalized Medicine)

Codominant scoring of AFLP in association panels.

TAG. Theoretical and Applied Genetics — Wed, 17 Mar 2010 00:00:00 +0100

Authors: Gort G, van Eeuwijk FA A study on the codominant scoring of AFLP markers in association panels without prior knowledge on genotype probabilities is described. Bands are scored codominantly by fitting normal mixture models to band intensities, illustrating and optimizing existing methodology, which employs the EM-algorithm. We study features that improve the performance of the algorithm, and the unmixing in general, like parameter initialization, restrictions on parameters, data transformation, and outlier removal. Parameter restrictions include equal component variances, equal or nearly equal distances between component means, and mixing probabilities according to Hardy-Weinberg Equilibrium. Histogram visualization of band intensities with superimposed normal densities, and op...

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

Polymorphism of a new Ty1-copia retrotransposon in durum wheat under salt and light stresses.

TAG. Theoretical and Applied Genetics — Wed, 17 Mar 2010 00:00:00 +0100

Authors: Woodrow P, Pontecorvo G, Fantaccione S, Fuggi A, Kafantaris I, Parisi D, Carillo P Long terminal repeat retrotransposons are the most abundant mobile elements in the plant genome and play an important role in the genome reorganization induced by environmental challenges. Their success depends on the ability of their promoters to respond to different signaling pathways that regulate plant adaptation to biotic and abiotic stresses. We have isolated a new Ty1-copia-like retrotransposon, named Ttd1a from the Triticum durum L. genome. To get insight into stress activation pathways in Ttd1a, we investigated the effect of salt and light stresses by RT-PCR and S-SAP profiling. We screened for Ttd1a insertion polymorphisms in plants grown to stress and showed that one new insertion was...

The P-value illusion: How to improve (psychiatric) genetic studies

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics — Wed, 17 Mar 2010 00:00:00 +0100

Conserved developmental transcriptomes in evolutionary divergent species

Genome Biology — Wed, 17 Mar 2010 00:00:00 +0100

Conclusions: These findings suggest that developmental programs are remarkably conserved at the transcriptome level, considering the great evolutionary distance between the genomes. Moreover, this transcriptional conservation may be responsible for the similar developmental anatomies of Dictyostelium discoideum and Dictyostelium purpureum. (Source: Genome Biology)

Complementary transcriptomic, lipidomic, and targeted functional genetic analyses in cultured Drosophila cells highlight the role of glycerophospholipid metabolism in Flock House virus RNA replication

BMC Genomics - Latest articles — Wed, 17 Mar 2010 00:00:00 +0100

Conclusion: These results indicate that glycerophospholipid metabolism, and in particular phosphatidylcholine biosynthesis, plays an important role in FHV RNA replication. Furthermore, they provide a framework in which to further explore the impact of specific steps in lipid metabolism on FHV replication, and potentially identify novel cellular targets for the development of drugs to inhibit positive-strand RNA viruses. (Source: BMC Genomics - Latest articles)

Reply to Dr. Finsterer "Callosal Agenesis and Left Ventricular Hypertrabeculation/Noncompaction"

American Journal of Medical Genetics Part A — Wed, 17 Mar 2010 00:00:00 +0100

No Abstract. (Source: American Journal of Medical Genetics Part A)

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

Genomic imprinting mechanisms in embryonic and extraembryonic mouse tissues

Heredity — Wed, 17 Mar 2010 00:00:00 +0100

Authors: Q J Hudson, T M Kulinski, S P Huetter & D P Barlow (Source: Heredity)

Quantitative trait locus analysis of hatch timing, weight, length and growth rate in coho salmon, Oncorhynchus kisutch

Heredity — Wed, 17 Mar 2010 00:00:00 +0100

Authors: E K McClelland & K A Naish (Source: Heredity)

GWAS: heritability missing in action?

European Journal of Human Genetics — Wed, 17 Mar 2010 00:00:00 +0100

GWAS: heritability missing in action? European Journal of Human Genetics advance online publication, March 17, 2010. doi:10.1038/ejhg.2010.35 Authors: Angus J Clarke & David N Cooper (Source: European Journal of Human Genetics)

TTR familial amyloid polyneuropathy: does a mitochondrial polymorphism entirely explain the parent-of-origin difference in penetrance?

European Journal of Human Genetics — Wed, 17 Mar 2010 00:00:00 +0100

TTR familial amyloid polyneuropathy: does a mitochondrial polymorphism entirely explain the parent-of-origin difference in penetrance? European Journal of Human Genetics advance online publication, March 17, 2010. doi:10.1038/ejhg.2010.36 Authors: Bernard Bonaïti, Malin Olsson, Urban Hellman, Ole Suhr, Catherine Bonaïti-Pellié & Violaine Planté-Bordeneuve (Source: European Journal of Human Genetics)

Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities

European Journal of Human Genetics — Wed, 17 Mar 2010 00:00:00 +0100

Authors: Amy R Frost, Sabrina V Böhm, Raj N Sewduth, Dragana Josifova, Caroline Mackie Ogilvie, Louise Izatt & Roland G Roberts (Source: European Journal of Human Genetics)

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

Linking the sub-Saharan and West Eurasian gene pools: maternal and paternal heritage of the Tuareg nomads from the African Sahel

European Journal of Human Genetics — Wed, 17 Mar 2010 00:00:00 +0100

Authors: Luísa Pereira, Viktor Černý, María Cerezo, Nuno M Silva, Martin Hájek, Alžběta Vašíková, Martina Kujanová, Radim Brdička & Antonio Salas (Source: European Journal of Human Genetics)

The BRCAPRO 5.0 model is a useful tool in genetic counseling and clinical management of male breast cancer cases

European Journal of Human Genetics — Wed, 17 Mar 2010 00:00:00 +0100

Authors: Ines Zanna, Piera Rizzolo, Francesco Sera, Mario Falchetti, Paolo Aretini, Giuseppe Giannini, Giovanna Masala, Alberto Gulino, Domenico Palli & Laura Ottini (Source: European Journal of Human Genetics)

Replication of past candidate loci for common diseases and phenotypes in 100 genome-wide association studies

European Journal of Human Genetics — Wed, 17 Mar 2010 00:00:00 +0100

Authors: Konstantinos C M Siontis, Nikolaos A Patsopoulos & John P A Ioannidis (Source: European Journal of Human Genetics)

What is a meaningful result? Disclosing the results of genomic research in autism to research participants

European Journal of Human Genetics — Wed, 17 Mar 2010 00:00:00 +0100

What is a meaningful result? Disclosing the results of genomic research in autism to research participants European Journal of Human Genetics advance online publication, March 17, 2010. doi:10.1038/ejhg.2010.34 Authors: Fiona Alice Miller, Robin Zoe Hayeems & Jessica Peace Bytautas (Source: European Journal of Human Genetics)

Quality standards in Biobanking: authentication by genetic profiling of blood spots from donor's original sample

European Journal of Human Genetics — Wed, 17 Mar 2010 00:00:00 +0100

Authors: Sergio Cardoso, Laura Valverde, Adrian Odriozola, Xabier Elcoroaristizabal & Marian M de Pancorbo (Source: European Journal of Human Genetics)

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

Isolation, polymorphism and expression study of two distinct major histocompatibility complex class II B genes from half-smooth tongue sole (Cynoglossus semilaevis)

International Journal of Immunogenetics — Wed, 17 Mar 2010 00:00:00 +0100

Major histocompatibility complex (MHC) class II antigens are important in vertebrate immune system, which present peptides to CD4+ T cells. In the present study, cDNAs encoding MHC class II B gene were isolated from the cDNA library of half-smooth tongue sole (Cynoglossus semilaevis), and the full length cDNA sequences were got by rapid amplification of cDNA ends polymerase chain reaction. The polymorphism of its open reading frame, 3' untranslated region and intron 1 was studied. Nineteen class II B alleles were identified from nine individuals and clustered into two groups, designated as Cyse-DAB and Cyse-DBB. The deduced amino acid sequences among Cyse-DAB and Cyse-DBB alleles shared identities from 94.0% to 99.6% and 92.4% to 99.6%, respectively, while the identities between Cyse-DAB a...

From Reptilian Phylogenomics to Reptilian Genomes: Analyses of c- Jun and DJ-1 Proto-Oncogenes

Cytogenetic and Genome Research — Tue, 16 Mar 2010 23:00:00 +0100

Cytogenet Genome Res (DOI:10.1159/000297715) (Source: Cytogenetic and Genome Research)

Diploid-Triploid Mosaicism and Tissue Ploidy Diversity within Platemys platycephala from Suriname

Cytogenetic and Genome Research — Tue, 16 Mar 2010 23:00:00 +0100

Cytogenet Genome Res (DOI:10.1159/000297716) (Source: Cytogenetic and Genome Research)

Cyclin G-associated kinase promotes microtubule outgrowth from chromosomes during spindle assembly

Chromosoma — Tue, 16 Mar 2010 14:49:18 +0100

Abstract During mitosis, all chromosomes must attach to microtubules of the mitotic spindle to ensure correct chromosome segregation. Microtubule attachment occurs at specialized structures at the centromeric region of chromosomes, called kinetochores. These kinetochores can generate microtubule attachments through capture of centrosome-derived microtubules, but in addition, they can generate microtubules themselves, which are subsequently integrated with centrosome-derived microtubules to form the mitotic spindle. Here, we have performed a large scale RNAi screen and identify cyclin G-associated kinase (GAK) as a novel regulator of microtubule generation at kinetochores/chromatin. This function of GAK requires its C-terminal J-domain, which is essential for clathrin recyc...

Integrating genomic-based clinical decision support into electronic health records

Future Medicine: Personalized Medicine — Tue, 16 Mar 2010 13:14:15 +0100

Personalized Medicine , March 2010, Vol. 7, No. 2, Pages 163-170. (Source: Future Medicine: Personalized Medicine)

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

Latest News & Updates from the Personalized Medicine Coalition

Future Medicine: Personalized Medicine — Tue, 16 Mar 2010 13:14:08 +0100

Personalized Medicine , March 2010, Vol. 7, No. 2, Pages 137-138. (Source: Future Medicine: Personalized Medicine)

News & Views in ... Personalized Medicine

Future Medicine: Personalized Medicine — Tue, 16 Mar 2010 13:14:06 +0100

Personalized Medicine , March 2010, Vol. 7, No. 2, Pages 133-135. (Source: Future Medicine: Personalized Medicine)

Is premarket identification of hepatotoxic drugs and sensitive patients possible based on high-dimensional ‘omic data?

Future Medicine: Personalized Medicine — Tue, 16 Mar 2010 13:14:04 +0100

Personalized Medicine , March 2010, Vol. 7, No. 2, Pages 171-178. (Source: Future Medicine: Personalized Medicine)

Developing mRNA-based biomarkers from formalin-fixed paraffin-embedded tissue

Future Medicine: Personalized Medicine — Tue, 16 Mar 2010 13:14:02 +0100

Personalized Medicine , March 2010, Vol. 7, No. 2, Pages 205-211. (Source: Future Medicine: Personalized Medicine)

Molecular diagnostics and personalized medicine: value-assessed opportunities for multiple stakeholders

Future Medicine: Personalized Medicine — Tue, 16 Mar 2010 13:14:01 +0100

Personalized Medicine , March 2010, Vol. 7, No. 2, Pages 143-161. (Source: Future Medicine: Personalized Medicine)

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

Advocacy in personalized medicine: a developing strength in a complex space

Future Medicine: Personalized Medicine — Tue, 16 Mar 2010 13:13:57 +0100

Personalized Medicine , March 2010, Vol. 7, No. 2, Pages 179-186. (Source: Future Medicine: Personalized Medicine)

Adaptive trial of personalized radiotherapy for intrahepatic cancer

Future Medicine: Personalized Medicine — Tue, 16 Mar 2010 13:13:54 +0100

Personalized Medicine , March 2010, Vol. 7, No. 2, Pages 197-204. (Source: Future Medicine: Personalized Medicine)

Promise of computational systems biology for cancer clinical trials: the voyage to be realized?

Future Medicine: Personalized Medicine — Tue, 16 Mar 2010 13:13:52 +0100

Personalized Medicine , March 2010, Vol. 7, No. 2, Pages 129-131. (Source: Future Medicine: Personalized Medicine)

Long QT testing: implications for complex diagnosis in personalized medicine

Future Medicine: Personalized Medicine — Tue, 16 Mar 2010 13:13:50 +0100

Personalized Medicine , March 2010, Vol. 7, No. 2, Pages 125-127. (Source: Future Medicine: Personalized Medicine)

Research highlights from the latest articles in 5-HTTLPR pharmacogenomics

Future Medicine: Personalized Medicine — Tue, 16 Mar 2010 13:13:47 +0100

Personalized Medicine , March 2010, Vol. 7, No. 2, Pages 139-141. (Source: Future Medicine: Personalized Medicine)

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

Biobank governance in the post-genomic age

Future Medicine: Personalized Medicine — Tue, 16 Mar 2010 13:13:44 +0100

Personalized Medicine , March 2010, Vol. 7, No. 2, Pages 187-195. (Source: Future Medicine: Personalized Medicine)

Pediatrics Study By Autism Consortium Shows CMA Finds More Genetic Abnormalities Than Current Tests

Genetics News From Medical News Today — Tue, 16 Mar 2010 12:00:00 +0100

The Autism Consortium, an innovative research, clinical and family collaboration dedicated to catalyzing research and enhancing clinical care for families with autism spectrum disorders (ASDs), announced today that the results of its comparison study of genetic testing methods for autism spectrum disorders is available from the journal Pediatrics through early online release in... (Source: Genetics News From Medical News Today)

Female Sex Chromosomes, Not Just Hormones, Help Regulate Blood Pressure

Genetics News From Medical News Today — Tue, 16 Mar 2010 12:00:00 +0100

Researchers at Georgetown University Medical Center (GUMC) have determined that something in female sex chromosomes appears to trigger a rise in blood pressure after the onset of menopause. This finding challenges the current belief that sex hormones are largely responsible for regulating blood pressure... (Source: Genetics News From Medical News Today)

Protein Movement Measurement With Nanosecond Resolution

Genetics News From Medical News Today — Tue, 16 Mar 2010 11:00:00 +0100

Researchers at the Department of Chemistry, Technische Universitat Munchen (TUM) have developed a method that allows the observation of local movements in proteins on a time scale of nanoseconds to microseconds. Upon examining movements of the protein villin using this method they found two structures that were otherwise barely distinguishable from one another... (Source: Genetics News From Medical News Today)

Breakthrough In Understanding How Our Body Repairs Itself

Genetics News From Medical News Today — Tue, 16 Mar 2010 08:00:00 +0100

New research led by scientists at the University of Essex has given an insight into how the body finds damage in the DNA code to repair it. From rays of sunlight to harmful tobacco smoke, our bodies are bombarded every single day by a range of environmental toxins which damage our DNA... (Source: Genetics News From Medical News Today)

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

Small scale genetic alterations contribute to increased mutability at the X-linked Hprt locus in vivo in Blm hypomorphic mice.

DNA Repair — Tue, 16 Mar 2010 00:00:00 +0100

Authors: Tereshchenko IV, Chen Y, McDaniel LD, Schultz RA, Tischfield JA, Shao C BLM, the gene mutated in Bloom syndrome (BS), encodes an ATP-dependent RecQ DNA helicase that is involved in the resolution of Holliday junctions, in the suppression of crossovers and in the management of damaged replication forks. Cells from BS patients have a characteristically high level of sister chromatid exchanges (SCEs), and increased chromosomal aberrations. Fibroblasts and lymphocytes of BS patients also exhibit increased mutation frequency at the X-linked reporter gene HPRT, suggesting that BLM also plays a role in preventing small scale genomic rearrangements. However, the nature of such small scale alterations has not been well characterized. Here we report the characterization of Hprt mutation...

Spontaneous reversal of the developmental aging of normal human cells following transcriptional reprogramming.

Regenerative Medicine — Tue, 16 Mar 2010 00:00:00 +0100

Conclusion: Prematurely aged (shortened) telomeres appears to be a common feature of iPS cells created by current pluripotency protocols. However, the spontaneous appearance of lines that express sufficient telomerase activity to extend telomere length may allow the reversal of developmental aging in human cells for use in regenerative medicine. PMID: 20230312 [PubMed - as supplied by publisher] (Source: Regenerative Medicine)

"Forward Genetics" as a Method to Maximize Power and Cost-Efficiency in Studies of Human Complex Traits.

Behavior Genetics — Tue, 16 Mar 2010 00:00:00 +0100

We present a population-based method of increasing the power and cost-efficiency of studies by selecting random individuals with a particular genotype and then assessing the accompanying quantitative phenotypes. Using statistical derivations, power- and cost graphs we show that such a "forward genetics" approach can lead to a marked reduction in sample size and costs. This approach is particularly apt for implementing in epidemiological studies for which DNA is already available but the phenotyping costs are high. PMID: 20232132 [PubMed - as supplied by publisher] (Source: Behavior Genetics)

Role of N-end rule ubiquitin ligases UBR1 and UBR2 in regulating the leucine-mTOR signaling pathway

Genes to Cells — Tue, 16 Mar 2010 00:00:00 +0100

Of 20 natural amino acids, leucine is particularly important for promoting cellular protein synthesis. The effect of leucine involves mammalian target of rapamycin (mTOR), a key protein kinase controlling cell growth. Leucine enhances mTOR-mediated phosphorylation of S6K1 and 4E-BP, thereby promoting protein synthesis. However, how the presence of leucine is sensed and transmitted to mTOR is poorly understood. Here, we show evidence that UBR1 and UBR2 might be cellular targets of leucine. UBR1 and UBR2 are E3 ubiquitin ligases that recognize the identity of N-terminal residues and contribute to selective destabilization of target proteins according to the N-end rule. Using leucine-immobilized affinity beads, we identified UBR1 and UBR2 as leucine-binding proteins from leucine-responsive ra...

Transcriptome sequencing in an ecologically important tree species: assembly, annotation, and marker discovery

BMC Genomics - Latest articles — Tue, 16 Mar 2010 00:00:00 +0100

Conclusions: This sequence collection represents amajor genomic resource for P. contorta, and the large numbergenetic markers characterized should contribute to future researchin this and other pines. Our results illustrate the utility of nextgeneration sequencing as a basis for marker development andpopulation genomics in non-model species. (Source: BMC Genomics - Latest articles)

MedWorm Message: Get the very latest Swine Flu news via the MedWorm Swine Flu RSS news feed - updated hourly from thousands of authoritative health and news sources.

Is canalization more than just a beautiful idea?

Genome Biology — Tue, 16 Mar 2010 00:00:00 +0100

The heat-shock protein 90 (Hsp90) is currently thought to buffer eukaryotic cells against perturbations caused by pre-existing cryptic genetic variation. A new study suggests that the buffering function of Hsp90 could instead be due to its repression of de novo transposon-mediated mutagenesis. (Source: Genome Biology)

Genome-wide DNA demethylation in mammals

Genome Biology — Tue, 16 Mar 2010 00:00:00 +0100

The cytidine deaminase AID and elongator-complex proteins contribute to the extensive removal of DNA methylation in mammalian primordial germ cells and in the paternal pronucleus of the zygote. (Source: Genome Biology)

Phylogenetic analysis of fungal ABC transporters

BMC Genomics - Latest articles — Tue, 16 Mar 2010 00:00:00 +0100

Conclusions: Data obtained during our analysis should contribute to a better understanding of the diversity of the fungal ABC proteins and provide important clues about their possible biological functions. (Source: BMC Genomics - Latest articles)

Co-expression of neighbouring genes in Arabidopsis: separating chromatin effects from direct interactions

BMC Genomics - Latest articles — Tue, 16 Mar 2010 00:00:00 +0100

Conclusions: Classifying linked gene pairs by their orientation, we are able to partially tease apart the different levels of regional expression modulation. (i) Regional chromatin characteristics modulate the accessibility for regulation and transcription, regardless of gene orientation; the strength of this chromatin effect can be assessed from divergently or convergently transcribed distant neighbours. (ii) Shared promoter regions up to 400bp in length enhance the co-expression of close bi-directional neighbours. (iii) Transcriptional interference of close neighbours is concentrated at the 3' ends of genes, and reduces co-expression on average by 40%. (Source: BMC Genomics - Latest articles)

MedWorm: Genetics

A reduction in hippocampal GABAA receptor α5 subunits disrupts the memory for location of objects in mice

Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families

Multiple single nucleotide polymorphisms in the human urate transporter 1 (hURAT1) gene are associated with hyperuricaemia in Han Chinese

Phenotypic spectrum associated with de novo and inherited deletions and duplications at 16p11.2 in individuals ascertained for diagnosis of autism spectrum disorder

Mutations of FUS gene in sporadic amyotrophic lateral sclerosis

Renal tumour suppressor function of the Birt-Hogg-Dube syndrome gene product folliculin

A novel splice variant of the DNA-PKcs gene is associated with clinical and cellular radiosensitivity in a patient with xeroderma pigmentosum

Genotype-phenotype correlations in L1 syndrome: a guide for genetic counselling and mutation analysis

A cohort study of recurrence patterns among more than 54 000 relatives of oral cleft cases in Denmark: support for the multifactorial threshold model of inheritance

Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome

Epigenetic signatures of Silver-Russell syndrome

Small-molecule signal-transduction inhibitors: targeted therapeutic agents for single-gene disorders

'Junk' DNA gets credit for making us who we are

Genome assembly quality: Assessment and improvement using the neutral indel model [METHOD]

Deep RNA sequencing at single base-pair resolution reveals high complexity of the rice transcriptome [RESEARCH]

Stanford Study: What Makes You Unique? Not Genes So Much As Surrounding Sequences

What Makes Us Unique? Not Only Our Genes

Discovery Of Switch Mechanism For Controlling Traffic In Cells

DNA Nanotechnology Breakthrough Offers Promising Applications In Medicine

51st Annual Drosophila Research Conference From The Genetics Society Of America

Interference of CD40L-Mediated Tumor Immunotherapy by Oncolytic Vesicular Stomatitis Virus

Preface.

A Review of Sex Determining Mechanisms in Geckos (Gekkota: Squamata).

Differential DMRT1 Expression in the Gonads of Podarcis sicula (Reptilia: Lacertidae).

Does Parental Education have a Moderating Effect on the Genetic and Environmental Influences of General Cognitive Ability in Early Adulthood?

Antimicrobial peptide-like genes in Nasonia vitripennis: a genomic perspective

Genetic evidence supports linguistic affinity of Mlabri -- a hunter-gatherer group in Thailand

Parental Genome Dosage Imbalance Deregulates Imprinting in Arabidopsis

Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform

Multiple Signals Converge on a Differentiation MAPK Pathway

HAP2(GCS1)-Dependent Gamete Fusion Requires a Positively Charged Carboxy-Terminal Domain

Regulation of Lifespan, Metabolism, and Stress Responses by the Drosophila SH2B Protein, Lnk

The First Cytogenetic Map of the Tuatara, Sphenodon punctatus

Genome of the Fresh Water Polyp Hydra Sequenced

NHGRI Launches Genomic Careers Resource for Students

Table of Contents

Erratum

Erratum

Detection of cryptic and variant IGH-MYC rearrangements in high-grade non-Hodgkin's lymphoma by fluorescence in situ hybridization: implications for cytogenetic testing

Translocation (6;13)(p21;q14.1) as a rare nonrandom cytogenetic abnormality in chronic lymphocytic leukemia

Segmental amplification of MLL gene associated with high expression of AURKA and AURKB genes in a case of acute monoblastic leukemia with complex karyotype

Prognostic and predictive value of 16p12.1 and 16q22.1 copy number changes in human breast cancer

High chromosomal instability in brain metastases of colorectal carcinoma

Glutathione-S-transferase genotypes influence the risk of chemotherapy-related toxicities and prognosis in Korean patients with diffuse large B-cell lymphoma

KRAS and BRAF mutations in prostate carcinomas of Chinese patients

Genomic alterations of chromosome region 11p as predictive marker by array comparative genomic hybridization in lung adenocarcinoma patients

Association of angiotensin converting enzyme gene insertion/deletion polymorphism with lung cancer in Turkey

The A61G EGF polymorphism is associated with development of extraaxial nervous system tumors but not with overall survival

VEGFA + 936C>T polymorphism and cancer risk: a meta-analysis

Oligonucleotide array outperforms SNP array on formalin-fixed paraffin-embedded clinical samples

Editorial Board

Chromatin structure and the inheritance of epigenetic information

Genome-wide association studies in pharmacogenomics

Population genetics: Reactive resistance

In Brief

Systems biology: Mutations that rock the boat

Human microbiome: A gut feeling for disease

From the editors

Comparison of the DNA methylation profiles of human peripheral blood cells and transformed B-lymphocytes

Ethnic diversity of DNA methylation in the OPRM1 promoter region in lymphocytes of heroin addicts

GenVault Provides GenTegra(TM) DNA To Support Cardiovascular Genetic Testing At Berkeley HeartLab

Future Prospects and Challenges of Antiangiogenic Cancer Gene Therapy

Cardiac Gene Therapy: Optimization of Gene Delivery Techniques In Vivo

HLA: a pharmacogenomics success story

Genetic and Environmental Influences on Cortisol Regulation Across Days and Contexts in Middle-Aged Men.

EEG alpha phenotypes: linkage analysis and relation to alcohol dependence in an American Indian community study

wDBTF: an integrated database resource for studying wheat transcription factor families

Differential expression of genes in salivary glands of male Rhipicephalus (Boophilus) microplus in response to infection with Anaplasma marginale

Synteny mapping between common bean and soybean reveals extensive blocks of shared loci

Indirect imaging of cardiac-specific transgene expression using a bidirectional two-step transcriptional amplification strategy

Self-complementary AAV-mediated gene therapy restores cone function and prevents cone degeneration in two models of Rpe65 deficiency

Feline leukemia virus integrase and capsid packaging functions do not change the insertion profile of standard Moloney retroviral vectors

Prolonged systemic circulation of chimeric oncolytic adenovirus Ad5/3-Cox2L-D24 in patients with metastatic and refractory solid tumors

New genetic associations detected in a host response study to hepatitis B vaccine

Temporal lobe grey matter volume in schizophrenia is associated with a genetic polymorphism influencing glycogen synthase kinase 3-β activity

DPPA4 modulates chromatin structure via association with DNA and core histone H3 in mouse embryonic stem cells

Retraction

Clinical Impact of Suicide Gene Therapy in Allogeneic Hematopoietic Stem Cell Transplantation

The Wire