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Genetic analysis of ABCG2 gene C421A polymorphism with gout disease in Chinese Han male populationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Content Type Journal ArticleCategory Short ReportDOI 10.1007/s00439-009-0760-4Authors Binbin Wang, Peking Union Medical College Graduate School Beijing ChinaZhimin Miao, Gout laboratory, Medical School Hospital of Qingdao University 16 Jiangsu Road Qingdao 266003 ChinaShiguo Liu, Gout laboratory, Medical School Hospital of Qingdao University 16 Jiangsu Road Qingdao 266003 ChinaJing Wang, Peking Union Medical College Graduate School Beijing ChinaShiyi Zhou, Peking Union Medical College Graduate School Beijing ChinaLin Han, Gout laboratory, Medical School Hospital of Qingdao University 16 Jiangsu Road Qingdao 266003 Chin...
Source: Human Genetics - November 17, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

The association of the MYH9 gene and kidney outcomes in American Indians: the Strong Heart Family StudyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In conclusion, common variants in MYH9 polymorphisms may not confer an increased risk of CKD in American Indian populations. Identification of the actual functional genetic variation responsible for the associations seen in African-Americans will likely help to clarify the lack of replication of this gene in our population of American Indians. Content Type Journal ArticleCategory Original InvestigationDOI 10.1007/s00439-009-0769-8Authors Nora Franceschini, University of North Carolina Department of Epidemiology 137 E. Franklin St., Suite 306 CB#8050 Chapel Hill NC 27514 USAV. Saroja Voruganti, Southwest Foundation f...
Source: Human Genetics - November 17, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

The Q223R polymorphism in LEPR is associated with obesity in Pacific IslandersEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This study examined the association of a promoter polymorphism of the leptin gene (LEP), G-2548A (rs7799039), and two non-synonymous single nucleotide polymorphisms of the leptin receptor gene (LEPR), K109R (rs1137100) and Q223R (rs1137101), with body weight, body mass index (BMI) and obesity (BMI ≥ 30) in Pacific Islanders. A total of 745 Austronesian (AN)-speaking participants were analyzed after adjusting for age, gender, and population differences. The results revealed that carriers of the 223Q alleles of LEPR had significantly higher body weight (P = 0.0009) and BMI (P = 0.0022) than...
Source: Human Genetics - November 17, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Monoamine oxidase A gene polymorphisms and enzyme activity associated with risk of gout in Taiwan aboriginesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This study was to investigate the association between gout and the MAOA single-nucleotide polymorphisms (SNPs) rs5953210, rs2283725, and rs1137070 as well as between gout and the COMT SNPs rs4680 Val158Met for 374 gout cases and 604 controls. MAO-A activity was also measured. All three MAOA SNPs were significantly associated with gout. A synonymous MAOA SNP, rs1137070 Asp470Asp, located in exon 14, was associated with the risk of having gout (P = 4.0 × 10−5, adjusted odds ratio 1.46, 95% confidence intervals [CI]: 1.11–1.91). We also showed that, when compared to individuals with the MAOA GAT hap...
Source: Human Genetics - November 13, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasiaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Generalised lymphatic dysplasia (GLD) is characterised by extensive peripheral lymphoedema with visceral involvement. In some cases, it presents in utero with hydrops fetalis. Autosomal dominant and recessive inheritance has been reported. A large, non-consanguineous family with three affected siblings with generalised lymphatic dysplasia is presented. One child died aged 5 months, one spontaneously miscarried at 17 weeks gestation, and the third has survived with extensive lymphoedema. All three presented with hydrops fetalis. There are seven other siblings who are clinically unaffected. ...
Source: Human Genetics - November 12, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Rubella vaccine-induced cellular immunity: evidence of associations with polymorphisms in the Toll-like, vitamin A and D receptors, and innate immune response genesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Toll-like, vitamin A and D receptors and other innate proteins participate in various immune functions. We determined whether innate gene-sequence variations are associated with rubella vaccine-induced cytokine immune responses. We genotyped 714 healthy children (11–19 years of age) after two doses of rubella-containing vaccine for 148 candidate SNP markers. Rubella virus-induced cytokines were measured by ELISA. Twenty-two significant associations (range of P values 0.002–0.048) were found between SNPs in the vitamin A receptor family (RARA, RARB, TOP2B and RARG), vitamin D receptor and do...
Source: Human Genetics - November 9, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Novel human pathological mutationsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Content Type Journal ArticleCategory Human Gene MutationsDOI 10.1007/s00439-009-0757-z Journal Human GeneticsOnline ISSN 1432-1203Print ISSN 0340-6717 (Source: Human Genetics)
Source: Human Genetics - November 6, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Common CFTR gene variants influence body composition and survival in rural GhanaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In conclusion, we identified common haplotypes in the CFTR gene that influence survival and body composition in the population at large with no evidence for heterozygote advantage. Content Type Journal ArticleCategory Original InvestigationDOI 10.1007/s00439-009-0762-2Authors Maris Kuningas, Leiden University Medical Center (LUMC) Department of Gerontology and Geriatrics C2-R PO Box 9600 2300 RC Leiden The NetherlandsDavid van Bodegom, Leiden University Medical Center (LUMC) Department of Gerontology and Geriatrics C2-R PO Box 9600 2300 RC Leiden The NetherlandsLinda May, Leiden University Medical Center (LUMC) Depar...
Source: Human Genetics - November 4, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

H Kehrer-sawatzki and DN Cooper (eds): Copy number variation and diseaseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Content Type Journal ArticleCategory Book ReviewDOI 10.1007/s00439-009-0759-xAuthors F. Lucy Raymond, Addenbrooke’s Hospital Cambridge Institute for Medical Research, Wellcome Trust/MRC Building Hills Road Cambridge CB2 0XY UK Journal Human GeneticsOnline ISSN 1432-1203Print ISSN 0340-6717 (Source: Human Genetics)
Source: Human Genetics - November 3, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

The transcription factor GATA-2 does not associate with angiographic coronary artery disease in the Ottawa Heart Genomics and Cleveland Clinic GeneBank StudiesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract The transcription factor GATA2 was reported to associate with coronary artery disease (CAD) in the family-based Genecard sample (Connelly et al. in PLoS Genet 2:e139, 2006). We asked whether GATA2 associates with sporadic cases of CAD in the Ottawa Heart Genomics Study (OHGS) and Cleveland Clinic (CC) populations. We genotyped the lead single nucleotide polymorphism (SNP) from Genecard, rs2713604 which is located in intron 5–6 of GATA2 in 600 CAD cases and 625 controls, as well as a tag SNP rs1573949 (r 2 = 0.87 in Caucasians of European ancestry in Utah from HapMap) in 1,136 cases...
Source: Human Genetics - November 3, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

A novel mutation in the connexin 29 gene may contribute to nonsyndromic hearing lossEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This study compared the intracellular distribution and assembly of mutant Cx29 (Cx29E269D) with that of the wild-type Cx29 (Cx29WT) in HeLa cells and the effect the mutant protein had on those cells. Cx29TW showed continuous staining along apposed cell membranes in the fluorescent localization assay. In contrast, the p.E269D missense mutation resulted in accumulation of the Cx29 mutant protein in the endoplasmic reticulum (ER) rather than in the cytoplasmic membrane. Co-expression of Cx29WT and Cx29E269D proteins by a bi-directional tet-on expression system demonstrated that the heteromeric connexon accumulated in the...
Source: Human Genetics - October 29, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Genetic variation in PARL influences mitochondrial contentEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Given their involvement in processes necessary for life, mitochondrial damage and subsequent dysfunction can lead to a wide range of human diseases. Previous studies of both animal models and humans have suggested that presenilins-associated rhomboid-like protein (PARL) is a key regulator of mitochondrial integrity and function, and plays a role in cellular apoptosis. As a surrogate measure of mitochondrial integrity, we previously measured mitochondrial content in a Caucasian population consisting of large extended pedigrees, with results highlighting a substantial genetic component to this trait. ...
Source: Human Genetics - October 27, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Mathew B. Hamilton: Population geneticsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Content Type Journal ArticleCategory Book ReviewDOI 10.1007/s00439-009-0755-1Authors Michael Krawczak, Christian Albrechts University of Kiel Institute of Medical Informatics and Statistics Brunswiker Straße 10 24105 Kiel Germany Journal Human GeneticsOnline ISSN 1432-1203Print ISSN 0340-6717 (Source: Human Genetics)
Source: Human Genetics - October 27, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Malaria severity and human nitric oxide synthase type 2 (NOS2) promoter haplotypesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Nitric oxide (NO) mediates host resistance to severe malaria and other infectious diseases. NO production and mononuclear cell expression of the NO producing enzyme-inducible nitric oxide synthase (NOS2) have been associated with protection from severe falciparum malaria. The purpose of this study was to identify single nucleotide polymorphisms (SNPs) and haplotypes in the NOS2 promoter, to identify associations of these haplotypes with malaria severity and to test the effects of these polymorphisms on promoter activity. We identified 34 SNPs in the proximal 7.3 kb region of the NOS2 promoter a...
Source: Human Genetics - October 26, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Genetic variants in the RELN gene are associated with otosclerosis in multiple European populationsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Otosclerosis is a common form of hearing loss characterized by abnormal bone remodeling in the otic capsule. It is considered a complex disease caused by both genetic and environmental factors. In a previous study, we identified a region on chr7q22.1 located in the RELN gene that is associated with otosclerosis in Belgian–Dutch and French populations. Evidence for allelic heterogeneity was found in this chromosomal region in the form of two independent signals. To confirm this finding, we have completed a replication study that includes four additional populations from Europe (1,141 total samples)...
Source: Human Genetics - October 21, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Molecular genetics and epigenetics of the cytochrome P450 gene family and its relevance for cancer risk and treatmentEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract The cytochromes P450 (CYPs) are very efficient catalysts of foreign compound metabolism and are responsible for the major part of metabolism of clinically important drugs. The enzymes are important in cancer since they (a) activate dietary and environmental components to ultimate carcinogens, (b) activate or inactivate drugs used for cancer treatment, and (c) are potential targets for anticancer therapy. The genes encoding the CYP enzymes active in drug metabolism are highly polymorphic, whereas those encoding metabolism of precarcinogens are relatively conserved. A vast amount of literature is pres...
Source: Human Genetics - October 13, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Transposable elements in disease-associated cryptic exonsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Transposable elements (TEs) make up a half of the human genome, but the extent of their contribution to cryptic exon activation that results in genetic disease is unknown. Here, a comprehensive survey of 78 mutation-induced cryptic exons previously identified in 51 disease genes revealed the presence of TEs in 40 cases (51%). Most TE-containing exons were derived from short interspersed nuclear elements (SINEs), with Alus and mammalian interspersed repeats (MIRs) covering >18 and >16% of the exonized sequences, respectively. The majority of SINE-derived cryptic exons had splice sites at the sa...
Source: Human Genetics - October 13, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

A comprehensive resequence analysis of the KLK15–KLK3–KLK2 locus on chromosome 19q13.33Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Single nucleotide polymorphisms (SNPs) in the KLK3 gene on chromosome 19q13.33 are associated with serum prostate-specific antigen (PSA) levels. Recent genome wide association studies of prostate cancer have yielded conflicting results for association of the same SNPs with prostate cancer risk. Since the KLK3 gene encodes the PSA protein that forms the basis for a widely used screening test for prostate cancer, it is critical to fully characterize genetic variation in this region and assess its relationship with the risk of prostate cancer. We have conducted a next-generation sequence analysis in 78...
Source: Human Genetics - October 13, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

A nonsynonymous SNP within PCDH15 is associated with lipid traits in familial combined hyperlipidemiaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this study we analyzed all four known nonsynonymous SNPs within PCDH15 in 1,268 individuals from Finnish and Dutch multigenerational families with FCHL. Association analyses of quantitative traits for SNPs were performed using the QTDT test. The nonsynonymous SNP rs10825269 resulted in a P = 0.0006 for the quantitative TG trait. Additional evidence for association was observed with the same SNP for apolipoprotein B levels (apo-B) (P = 0.0001) and total cholesterol (TC) levels (P = 0.001). None of the other three SNPs tested showed a significant association with any lipid-related trait. W...
Source: Human Genetics - October 9, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

ResponseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Content Type Journal ArticleCategory ResponseDOI 10.1007/s00439-009-0747-1Authors Michael F. Hammer, University of Arizona ARL Division of Biotechnology Tucson AZ 85721 USADoron M. Behar, Rambam Health Care Campus Molecular Medicine Laboratory 31096 Haifa IsraelTatiana M. Karafet, University of Arizona ARL Division of Biotechnology Tucson AZ 85721 USAFernando L. Mendez, University of Arizona Department of EEB Tucson AZ 85721 USABrian Hallmark, University of Arizona ARL Division of Biotechnology Tucson AZ 85721 USATamar Erez, University of Arizona ARL Division of Biotechnology Tucson AZ 85721 USALev A. Zhivotovsky, Russ...
Source: Human Genetics - October 8, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

A comment on the paper: Extended Y chromosome haplotypes resolve multiple and unique lineages of the Jewish Priesthood by M.F. Hammer, D.M. Behar, T.M. Karafet, F.L. Mendez, B. Hallmark, T. Erez, L.A. Zhivotovsky, S. Rosset, K. Skorecki, Hum Genet, published online 8 August 2009Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Content Type Journal ArticleCategory Letter to the EditorDOI 10.1007/s00439-009-0739-1Authors Anatole Alex Klyosov, Newton MA USA Journal Human GeneticsOnline ISSN 1432-1203Print ISSN 0340-6717 (Source: Human Genetics)
Source: Human Genetics - October 8, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

An intronic polymorphism in the corticotropin-releasing hormone receptor 2 gene increases susceptibility to HBV-related hepatocellular carcinoma in Chinese populationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Corticotropin-releasing hormone receptor 2 (CRHR2) plays a role in both the central nervous system (CNS) and the peripheral nervous system. CRHR2 together with its ligands, urocortins (Ucns) and corticotropin-releasing hormone (CRH), functions as a mediator of inflammatory response and inhibitor of angiogenesis. Recently, it has been reported to be expressed in many human cancers. An association between rs2267716 polymorphism in the CRHR2 gene and susceptibility to hepatocellular carcinoma (HCC) was found in patients with chronic hepatitis C virus (HCV) infection. In the present study we analyzed, u...
Source: Human Genetics - October 8, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Variants in toll-like receptors 2 and 9 influence susceptibility to pulmonary tuberculosis in Caucasians, African-Americans, and West AfricansEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Tuberculosis (TB) is a global public health problem and a source of preventable deaths each year, with 8.8 million new cases of TB and 1.6 million deaths worldwide in 2005. Approximately, 10% of infected individuals develop pulmonary or extrapulmonary TB, suggesting that host defense factors influence development of active disease. Toll-like receptor’ (TLR) polymorphisms have been associated with regulation of TLR expression and development of active TB. In the present study, 71 polymorphisms in TLR1, TLR2, TLR4, TLR6, and TLR9 were examined from 474 (295 cases and 179 controls) African-Americans, 3...
Source: Human Genetics - September 21, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In conclusion, the CEL gene is highly polymorphic, but mutations in CEL are likely to be a rare cause of monogenic diabetes. Content Type Journal ArticleCategory Original InvestigationDOI 10.1007/s00439-009-0740-8Authors Janniche Torsvik, University of Bergen Department of Clinical Medicine Bergen NorwayStefan Johansson, University of Bergen Department of Clinical Medicine Bergen NorwayAnders Johansen, Hagedorn Research Institute Gentofte DenmarkJakob Ek, Hagedorn Research Institute Gentofte DenmarkJayne Minton, Peninsula Medical School Institute of Biomedical and Clinical Science Exeter UKHelge Ræder, University of ...
Source: Human Genetics - September 17, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Detection and characterisation of large SERPINC1 deletions in type I inherited antithrombin deficiencyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We present here results of multiplex ligation-dependent probe amplification (MLPA) analysis performed in 22 of the 23 remaining probands, in whom sequencing had revealed no mutation. Large deletions, present at the heterozygous state, were detected in 10 patients: whole gene deletions in 5 and partial deletions removing either exon 6 (n = 2), exons 1–2 (n = 1) or exons 5–7 (n = 2) in 5 others. Exon 6 partial deletions are a 2,769-bp deletion and a 1,892-bp deletion associated with a 10-bp insertion, both having 5′ and/or 3′ breakpoints located within Alu repeat elements. In addition...
Source: Human Genetics - September 17, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

The molecular genetics of blood group polymorphismEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Over 300 blood group specificities on red cells have been identified, many of which are polymorphic. The molecular mechanisms responsible for these polymorphisms are diverse, though many simply represent single nucleotide polymorphisms (SNPs). Other mechanisms include the following: gene deletion; single nucleotide deletion and sequence duplication, which introduce reading-frame shifts; nonsense mutation; intergenic recombination between closely linked genes, giving rise to hybrid genes and hybrid proteins; and a SNP in the promoter region of a blood group gene. Examples of these various genetic mec...
Source: Human Genetics - September 3, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this study, we explored the relationship between type 1 collagen genes and the quantitative trait central corneal thickness (CCT). CCT was measured in a cohort of 28 Australian type I OI patients and mean CCT was found to be significantly lower compared to a normal population (P < 0.001). We then investigated CCT and corneal collagen fibril diameter and density in a mouse model of OI with a col1a2 mutation. Mean CCT was significantly lower in mutant mice (P = 0.002), as was corneal collagen fibril diameter (P = 0.034), whilst collagen fibril density was significantly greater in mutants...
Source: Human Genetics - August 28, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Assessment of association of rs2200733 on chromosome 4q25 with atrial fibrillation and ischemic stroke in a Chinese Han populationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Atrial fibrillation (AF) is the most common arrhythmia in the clinical setting and an independent risk factor for stroke. Approximately 10 million Chinese people are affected by AF, but the genetic basis is largely unknown. A recent genome-wide association study in Iceland identified association between SNP rs2200733 on 4q25 and AF; however, many independent replication studies are essential to unequivocally validate this association. To assess the association between rs2200733 and AF as well as that between rs2200733 and ischemic stroke in a mainland Chinese Han population, we carried out case–co...
Source: Human Genetics - August 25, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Deletion of an enhancer near DLX5 and DLX6 in a family with hearing loss, craniofacial defects, and an inv(7)(q21.3q35)Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report a three generation family with five affected members, all of whom have hearing loss, craniofacial defects, and a paracentric inversion of the long arm of chromosome 7, inv(7)(q21.3q35). High resolution mapping of the inversion showed that the 7q21.3 breakpoint is located 65 and 80 kb centromeric of DLX6 and DLX5, respectively. Further analysis revealed a 5,115 bp deletion at the 7q21.3 breakpoint. While the breakpoint does not disrupt either DLX5 or DLX6, the syndrome present in the family is similar to that observed in Dlx5 knockout mice and includes a subset of the features observed in individuals...
Source: Human Genetics - August 25, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Infantile hypertrophic pyloric stenosis: evaluation of three positional candidate genes, TRPC1, TRPC5 and TRPC6, by association analysis and re-sequencingEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Infantile hypertrophic pyloric stenosis (IHPS) is the most common inherited form of gastrointestinal obstruction in infancy with a striking male preponderance. Infants present with vomiting due to gastric outlet obstruction caused by hypertrophy of the smooth muscle of the pylorus. Two loci specific to extended pedigrees displaying autosomal dominant inheritance have been identified. A genome scan identified loci on chromosomes 11q14–q22 and Xq23–q24 which are predicted to be responsible for a subset of smaller families with IHPS demonstrating non-Mendelian inheritance. The two linked chromosoma...
Source: Human Genetics - August 22, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Intron 7 conserved sequence elements regulate the splicing of the SMN genesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Proximal spinal muscular atrophy (SMA) is a neuromuscular disease caused by low levels of the survival motor neuron (SMN) protein. In humans there are two nearly identical SMN genes, SMN1 and SMN2. The SMN2 gene generates a truncated protein, due to a C to T nucleotide alteration in exon 7, which leads to inefficient RNA splicing of exon 7. This exclusion of SMN exon 7 is central to the onset of the SMA disease. Exon 7 splicing is regulated by a number of exonic and intronic splicing regulatory sequences and the trans-factors that bind them. Here, we identify conserved intronic sequences in the SMN g...
Source: Human Genetics - August 22, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Srikumar P. Chellappan: Chromatin protocolsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Content Type Journal ArticleCategory Book ReviewDOI 10.1007/s00439-009-0734-6Authors Ray Waters, Cardiff University Department of Pathology Tenovus Building, Heath Park Cardiff UK Journal Human GeneticsOnline ISSN 1432-1203Print ISSN 0340-6717 (Source: Human Genetics)
Source: Human Genetics - August 21, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Genetic analysis of diabetic nephropathy on chromosome 18 in African Americans: linkage analysis and dense SNP mappingEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In this study, we have carried out fine linkage mapping in the 18q region previously linked to diabetic nephropathy in AAs by genotyping both microsatellite and single nucleotide polymorphisms (SNPs) for linkage analysis in an expanded set of 223 AA families multiplexed for type 2 diabetes associated ESRD (T2DM-ESRD). Several approaches were used to evaluate evidence of linkage with the strongest evidence for linkage in ordered subset analysis with an earlier age of T2DM diagnosis compared to the remaining pedigrees (LOD 3.9 at 90.1 cM, ∆P = 0.0161, NPL P value = 0.00002). Overall, the ma...
Source: Human Genetics - August 19, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulatorsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Mutations in the transcription factor encoding TFAP2A gene underlie branchio-oculo-facial syndrome (BOFS), a rare dominant disorder characterized by distinctive craniofacial, ocular, ectodermal and renal anomalies. To elucidate the range of ocular phenotypes caused by mutations in TFAP2A, we took three approaches. First, we screened a cohort of 37 highly selected individuals with severe ocular anomalies plus variable defects associated with BOFS for mutations or deletions in TFAP2A. We identified one individual with a de novo TFAP2A four amino acid deletion, a second individual with two non-synonymous...
Source: Human Genetics - August 15, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

KATP channel Kir6.2 E23K variant overrepresented in human heart failure is associated with impaired exercise stress responseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract ATP-sensitive K+ (KATP) channels maintain cardiac homeostasis under stress, as revealed by murine gene knockout models of the KCNJ11-encoded Kir6.2 pore. However, the translational significance of KATP channels in human cardiac physiology remains largely unknown. Here, the frequency of the minor K23 allele of the common functional Kir6.2 E23K polymorphism was found overrepresented in 115 subjects with congestive heart failure compared to 2,031 community-based controls (69 vs. 56%, P < 0.001). Moreover, the KK genotype, present in 18% of heart failure patients, was associated with abnormal...
Source: Human Genetics - August 14, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Extended Y chromosome haplotypes resolve multiple and unique lineages of the Jewish priesthoodEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract It has been known for over a decade that a majority of men who self report as members of the Jewish priesthood (Cohanim) carry a characteristic Y chromosome haplotype termed the Cohen Modal Haplotype (CMH). The CMH has since been used to trace putative Jewish ancestral origins of various populations. However, the limited number of binary and STR Y chromosome markers used previously did not provide the phylogenetic resolution needed to infer the number of independent paternal lineages that are encompassed within the Cohanim or their coalescence times. Accordingly, we have genotyped 75 binary markers ...
Source: Human Genetics - August 9, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Modifier gene study of meconium ileus in cystic fibrosis: statistical considerations and gene mapping resultsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Cystic fibrosis (CF) is a monogenic disease due to mutations in the CFTR gene. Yet, variability in CF disease presentation is presumed to be affected by modifier genes, such as those recently demonstrated for the pulmonary aspect. Here, we conduct a modifier gene study for meconium ileus (MI), an intestinal obstruction that occurs in 16–20% of CF newborns, providing linkage and association results from large family and case–control samples. Linkage analysis of modifier traits is different than linkage analysis of primary traits on which a sample was ascertained. Here, we articulate a source of c...
Source: Human Genetics - August 7, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Nature meets nurture: molecular genetics of gastric cancerEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract The immensity of genes and molecules implicated in gastric carcinogenesis is overwhelming and the relevant importance of some of these molecules is too often unclear. This review serves to bring us up-to-date with the latest findings as well as to look at the larger picture in terms of how to tackle the problem of solving this multi-piece puzzle. In this review, the environmental nurturing of intestinal cancer is discussed, beginning with epidemiology (known causative factors for inducing molecular change), an update of H. pylori research, including the role of inflammation and stem cells in premali...
Source: Human Genetics - August 5, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

The combined impact of metabolic gene polymorphisms on elite endurance athlete status and related phenotypesEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Endurance performance is a complex phenotype subject to the influence of both environmental and genetic factors. Although the last decade has seen a variety of specific genetic factors proposed, many in metabolic pathways, each is likely to make a limited contribution to an ‘elite’ phenotype: it seems more likely that such status depends on the simultaneous presence of multiple such variants. The aim of the study was to investigate individually and in combination the association of common metabolic gene polymorphisms with endurance athlete status, the proportion of slow-twitch muscle fibers and ...
Source: Human Genetics - August 3, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Ricardo Benavente and Jean-Nicolas Volff: MeiosisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Content Type Journal ArticleCategory ErratumDOI 10.1007/s00439-009-0725-7Authors Maj Hultén, University of Warwick Department of Biological Sciences, Warwick Medical School Coventry CV4 7AL UK Journal Human GeneticsOnline ISSN 1432-1203Print ISSN 0340-6717 (Source: Human Genetics)
Source: Human Genetics - August 3, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Shaffer LG, Slovak ML, Campbell LJ (2009): ISCN 2009 an international system for human cytogenetic nomenclatureEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Content Type Journal ArticleCategory Book ReviewDOI 10.1007/s00439-009-0726-6Authors Willatt Lionel, Addenbrooke’s Hospital East Anglian Medical Genetics Service, Molecular Genetics Cambridge UKSian M. Morgan, University Hospital of Wales Cytogenetics Laboratory, Medical Genetics Service for Wales Heath Park Cardiff UK Journal Human GeneticsOnline ISSN 1432-1203Print ISSN 0340-6717 (Source: Human Genetics)
Source: Human Genetics - August 3, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Comprehensive resequence analysis of a 97 kb region of chromosome 10q11.2 containing the MSMB gene associated with prostate cancerEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Genome-wide association studies of prostate cancer have identified single nucleotide polymorphism (SNP) markers in a region of chromosome 10q11.2, harboring the microseminoprotein-β (MSMB) gene. Both the gene product of MSMB, the prostate secretory protein 94 (PSP94) and its binding protein (PSPBP), have been previously investigated as serum biomarkers for prostate cancer progression. Recent functional work has shown that different alleles of the significantly associated SNP in the promoter of MSMB found to be associated with prostate cancer risk, rs10993994, can influence its expression in tumors a...
Source: Human Genetics - July 30, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Novel human pathological mutationsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Content Type Journal ArticleCategory Human Gene MutationsDOI 10.1007/s00439-009-0717-7 Journal Human GeneticsOnline ISSN 1432-1203Print ISSN 0340-6717 (Source: Human Genetics)
Source: Human Genetics - July 30, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Evidence for a dominant major gene conferring predisposition to hepatitis C virus infection in endemic conditionsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This study provides evidence for the involvement of host genetic factors in susceptibility/resistance to HCV infection in endemic conditions. Content Type Journal ArticleCategory Original InvestigationDOI 10.1007/s00439-009-0721-yAuthors Cédric Laouénan, Institut National de la Santé et de la Recherche Médicale (INSERM), U550 Laboratoire de Génétique Humaine des Maladies Infectieuses, Faculté de Médecine Necker 156 rue de Vaugirard 75015 Paris FranceSabine Plancoulaine, Institut National de la Santé et de la Recherche Médicale (INSERM), U550 Laboratoire de Génétique Humaine des Maladies Infectieuses, Facu...
Source: Human Genetics - July 25, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Familial autosomal dominant reflex epilepsy triggered by hot water maps to 4q24-q28Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Hot water epilepsy is a reflex or sensory epilepsy in which seizures are triggered by the stimulus of bathing in hot water. Although there is evidence of a genetic basis to its etiology, no gene associated with this disorder has so far been found. In order to identify the genetic locus involved in the pathophysiology of hot water epilepsy, we performed a genome-wide linkage analysis in a four-generation family manifesting the disorder in an autosomal dominant manner. Significant linkage was detected on chromosome 4q24-q28, with the highest two-point LOD score of 3.50 at recombination value (θ) of 0...
Source: Human Genetics - July 14, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Clear and independent associations of several HLA-DRB1 alleles with differential antibody responses to hepatitis B vaccination in youthEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract To confirm and refine associations of human leukocyte antigen (HLA) genotypes with variable antibody (Ab) responses to hepatitis B vaccination, we have analyzed 255 HIV-1 seropositive (HIV+) youth and 80 HIV-1 seronegatives (HIV−) enrolled into prospective studies. In univariate analyses that focused on HLA-DRB1, -DQA1, and -DQB1 alleles and haplotypes, the DRB1*03 allele group and DRB1*0701 were negatively associated with the responder phenotype (serum Ab concentration ≥ 10 mIU/mL) (P = 0.026 and 0.043, respectively). Collectively, DRB1*03 and DRB1*0701 were found in 42 (...
Source: Human Genetics - July 14, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Genetic influence on variation in serum uric acid in American Indians: the strong heart family studyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Hyperuricemia is associated with the metabolic syndrome, gout, renal and cardiovascular disease (CVD). American Indians have high rates of CVD and 25% of individuals in the strong heart family study (SHFS) have high serum uric acid levels. The aim of this study was to investigate the genetic determinants of serum uric acid variation in American Indian participants of the SHFS. A variance component decomposition approach (implemented in SOLAR) was used to conduct univariate genetic analyses in each of three study centers and the combined sample. Serum uric acid was adjusted for age, sex, age ×&...
Source: Human Genetics - July 10, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Application of serial analysis of gene expression to the study of human genetic diseaseEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Sequence tag analysis using serial analysis of gene expression (SAGE) is a powerful strategy for the quantitative analysis of gene expression in human genetic disorders. SAGE facilitates the measurement of mRNA transcripts and generates a non-biased gene expression profile of normal and pathological disease tissue. In addition, the SAGE technique has the capacity of detecting the expression of novel transcripts allowing for the identification of previously uncharacterised genes, thus providing a unique advantage over the traditional microarray-based approach for expression profiling. The technique h...
Source: Human Genetics - July 10, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Genetic risk factors for melanomaEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract The genetic basis of melanoma is complex and has both inherited and acquired components. Different genomic approaches have been used to identify a number of inherited risk factors, which can be stratified by penetrance and prevalence. Rare high-penetrance factors are expressed in familial clustering of melanoma and include mutations in CDKN2A (encoding p16INK4a and p14ARF) and CDK4. These genes are involved in cell-cycle arrest and melanocyte senescence and are nearly invariably targeted by somatic mutations during melanoma progression. Low-penetrance factors are common in the general population and ...
Source: Human Genetics - July 9, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals

Ricardo Benavente and Jean-Nicolas Volff: MeiosisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Content Type Journal ArticleCategory Book ReviewDOI 10.1007/s00439-009-0709-7Authors Maj Hulten, University of Warwick Department of Biological Sciences, Warwick Medical School Coventry CV4 7AL UK Journal Human GeneticsOnline ISSN 1432-1203Print ISSN 0340-6717 (Source: Human Genetics)
Source: Human Genetics - July 9, 2009 Category: Genetics & Stem Cells Tags: Human Genetics Source Type: journals