Blog Tag: Genetics
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Genetic Variant Influences Aging Rate?
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A genetic variant appears to influence the length of telomeres which are caps on chromosomes. These telomere caps shorten with age and the shortening is linked to aging. Scientists announced today (7 Feb) they have identified for the first time definitive variants associated with biological ageing in humans. The team analyzed more than 500,000 genetic variations across the entire human genome to identify the variants which are located near a gene called TERC. It is important to note that telomere shortening might offer a life extending benefit: shorter telomeres might stop at least some cancer cells from dividing too many ...
Source: FuturePundit - February 9, 2010 Category: Health Medicine and Bioethics Commentators Authors: Randall Parker Tags: Aging Genetics Source Type: blogs
Identifying & Overcoming Taxane Drug Resistance
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Proteomics study reveals a protein that, when suppressed, makes cancers more susceptible to chemotherapy involving taxane drugs.
Taxanes, a group of cancer drugs that includes paclitaxel (Taxol®) and docetaxel (Taxotere®), have become front-line therapy for a variety of metastatic cancers. But as with many chemotherapy agents, resistance can develop, a frequent problem in breast, ovarian, prostate [...] (Source: Libby's H*O*P*E*)
Source: Libby's H*O*P*E* - February 8, 2010 Category: Cancer Authors: Paul Cacciatore Tags: Chemotherapy Discoveries Genetics Proteomics Bruce Zetter Ph.D. Children's Hospital Boston docetaxel GST Pi Harvard Medical School Howard Hughes Medical Instit. Institute of Medicine National Institutes of Health ovarian cancer p Source Type: blogs
Faces of America - PBS Series
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Faces of America premieres nationally Wednesdays, February 10 - March 3, 2010 on PBS: "What made America? What makes us? These two questions are at the heart of the new PBS series Faces of America with Henry Louis Gates, Jr. who turns to the latest tools of genealogy and genetics to explore the family histories of 12 renowned Americans."
Posted at Clinical Cases and Images. Stay updated and subscribe, or follow me on Twitter. (Source: Clinical Cases and Images - Blog)
Source: Clinical Cases and Images - Blog - February 8, 2010 Category: Professors and Educators Authors: noreply at blogger.com (Ves Dimov, M.D.) Tags: Video Genetics Source Type: blogs
X chromosome marks the spot, again
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Conclusions
The relationship between male and female demographic histories is likely to be complex as evidence supporting different conclusions can be found in the same dataset. Although demography may have contributed to the excess of SNPs with large allele frequency differences observed on the X chromosome, we believe that selection is at least partially responsible. Finally, our results reveal the geographical complexities of selective sweeps on the X chromosome and argue for the use of diverse populations in studies of selection.
The low effective population of the X chromosome and the power of drift to produce greate...
Source: Gene Expression - February 7, 2010 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
Beautiful butterflies & localized adaptation
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Two new papers are out in PLoS Biology which make inferences about adaptation using butterfly species which exhibit Mullerian mimicry. I'll give the author summaries instead of the abstracts.Genomic Hotspots for Adaptation: The Population Genetics of Mullerian Mimicry in the Heliconius melpomene Clade:The diversity of wing patterns in Heliconius butterflies is a longstanding example of both Mullerian mimicry and adaptive radiation. The genetic regions controlling such patterns are "hotspots" for adaptive evolution, with small regions of the genome controlling major changes in wing pattern. Across multiple hybrid zones in H...
Source: Gene Expression - February 7, 2010 Category: Geneticists and Genetics Commentators Tags: Population genetics Source Type: blogs
Gene Screen 2010 – Call for Submissions
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Genetic Alliance is now open to receive submissions of all types and genres of film but it must be related to genetics and health. The deadline is May 31, 2010.
Genetic Alliance will provide cash awards to all films selected for Gene Screen. First prize will receive $250 plus a travel stipend (reimbursed) of up to $250 to travel to Washington, DC, to participate in the Q&A session after the screening. An additional $250 will be split among the other selected films (award amounts will depend on how many films are selected). All filmmakers of selected films are invited to participate in the Q&A, but only the first pr...
Source: ScienceRoll - February 5, 2010 Category: Geneticists and Genetics Commentators Authors: Bertalan Meskó Tags: Video Web 2.0 genetics Source Type: blogs
Disarming Specialized Stem Cells Might Combat Ovarian Cancer
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Eliminating cancer stem cells (CSCs) within a tumor could hold the key to successful treatments for ovarian cancer, which has been notoriously difficult to detect and treat, according to new findings published this week in the journal Oncogene by Yale School of Medicine researchers.
Eliminating cancer stem cells (CSCs) within a tumor could hold the key [...] (Source: Libby's H*O*P*E*)
Source: Libby's H*O*P*E* - February 2, 2010 Category: Cancer Authors: Paul Cacciatore Tags: Discoveries Genetics Medical Study Results cancer stem cells Connecticut Innovations Fannie E. Rippel Foundation Lin28 gene National Cancer Instit. Nita Maihle Ph.D. Oct4 gene Oncogene ovarian cancer Shuping Peng siRNA small in Source Type: blogs
Inbred dogs & GWA
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In this study, a GWA study with 81 affected dogs (cases) and 57 controls from the Nova Scotia duck tolling retriever breed identified five loci associated with a canine systemic lupus erythematosus (SLE)-related disease complex that includes both antinuclear antibody (ANA)-positive immune-mediated rheumatic disease (IMRD) and steroid-responsive meningitis-arteritis (SRMA). Fine mapping with twice as many dogs validated these loci. Our results indicate that the homogeneity of strong genetic risk factors within dog breeds allows multigenic disorders to be mapped with fewer than 100 cases and 100 controls, making dogs an exce...
Source: Gene Expression - February 2, 2010 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
"Synthetic associations" and sickle cell anemia
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Last week, I made a silly error in describing a problem in the sickle cell anemia example given by Dickson et al. (2010) as an empirical example of the phenomenon they call "synthetic association". So allow me to take a mulligan, and re-try this:The authors performed an association study in African-Americans, using ~200 individuals with sickle cell anemia as cases, and >7,000 controls. From their description, they simply performed a logistic regression of disease status on common polymorphisms genome-wide. This turned up a large (~2.5Mb) region surrounding HBB (known to harbour the rare disease-causing mutation) as highly ...
Source: Gene Expression - February 2, 2010 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
Half Sigma's flawed post on DTNBP1
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A while back, Mark and I were working on a comprehensive post which would try to tally the results of the various IQ-gene studies to see what they said about racial differences. We began this quest bright-eyed and hopeful that we would help contribute to ending a calamitous debate that has gone on for way too long. However, as we learned more about genetics, and these studies in particular, we came to realize that it's too early to take IQ-genes seriously.We began with an approach similar to what Half Sigma did 2 years ago with the DTNBP1 gene. However, we soon learned that this approach was incredibly flawed and misleadin...
Source: Gene Expression - February 1, 2010 Category: Geneticists and Genetics Commentators Tags: IQ Behavior Genetics Source Type: blogs
Race and IQ: Rushton and Jensen review and respond to Richard Nisbett's "Intelligence and How to Get It"
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Rushton, J. P., & Jensen, A. R. (2010). Race and IQ: A Theory-Based Review of the Research in Richard Nisbett’s Intelligence and How to Get It. The Open Psychology Journal, 3, 9-35.Rushton and Jenson's respone to Richard Nisbett's "Intelligence and how to get it" has now been printed and can be accessed by clicking on title link aboveAbstract: We provide a detailed review of data from psychology, genetics, and neuroscience in a point-counterpoint format to enable readers to identify the merits and demerits of each side of the debate over whether the culture-only (0% genetic- 100% environmental) or nature + nurture mo...
Source: Intelligent Insights on Intelligence Theories and Tests (aka IQ's Corner) - February 1, 2010 Category: Neurologists Tags: genetics nature v nurture behavior genetics race intelligence Source Type: blogs
Virology lecture #3: Genomes and genetics
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Download: .wmv (333 MB) | .mp4 (75 MB)
Visit the virology W3310 home page for a complete list of course resources. (Source: virology blog)
Source: virology blog - January 29, 2010 Category: Virology Authors: Vincent Racaniello Tags: Basic virology columbia university DNA genetics genomes nucleic acid RNA viral virology course virus w3310 Source Type: blogs
Pathway Genomics: I spit again
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Last year, I got an offer from Navigenics to analyze my salive sample and of course, I gladly accepted it and shared the results with you. I also visited Navigenics HQ in Redwood City. Now, after an interview with Pathway Genomics, I got a chance to send my saliva sample to Pathway Genomics as well. I’m very interested to see the ancestry, carrier status and drug responses.
Here are some pictures I took:
I plan to share my experiences and also compare the results and the sampling processes which is going to be quite exciting. I will keep you posted. (Source: ScienceRoll)
Source: ScienceRoll - January 28, 2010 Category: Geneticists and Genetics Commentators Authors: Bertalan Meskó Tags: Genetic testing Navigenics Personalized medicine Web 2.0 genetics Source Type: blogs
A bold prediction: "synthetic associations" are not a panacea
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There's a bit of press surrounding the interesting result from David Goldstein's group that, in certain situations, a number of "rare" (defined as an allele frequency less than 5% [1]) variants influencing a trait can lead to an association signal at "common" SNPs. This phenomenon they authors call a "synthetic association". The authors claim this is potentially the cause of many of the associations found in genome-wide association studies (with common SNPs), as well as a potential solution to the "missing heritability problem" (this isn't mentioned in the paper itself, but rather in a Times article describing it). In othe...
Source: Gene Expression - January 27, 2010 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
Show me the data
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Update: Also see p-ter at Gene Expression Class.
Follow up on yesterday's post on the new Dickson et al. paper from David Goldstein's lab, A New Way to Look for Diseases' Genetic Roots:
The Icelandic gene-hunting firm deCODE genetics, which emerged last week from bankruptcy, has long led in detecting SNPs associated with common disease. Dr. Kari Stefansson, the company's founder and research director, agreed that whole genome sequencing would "give us a lot of extremely exciting data." But he disputed Dr. Goldstein's view that rare variants carried most of the missing heritability. Both deCODE genetics and scientists at t...
Source: Gene Expression - January 26, 2010 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
Smartphone as a Personal Genome Assistant
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A few months ago, I wrote about a press release:
Using the Google Phone’s built-in bar code reader, Dr. Pellionisz demonstrated how personal genome computing can detect genome-friendly and genome-supportive products from foods to cosmetics to building materials and beyond.
You upload data from personal health record system such as Microsoft Healthvault or Google Health; genomic data from 23andMe or Navigenics to your smartphone and then by using the bar code reader, you can find products that are probably good for you based on your genomic and health profiles. Though the system has several limitations (e.g. how useful ge...
Source: ScienceRoll - January 26, 2010 Category: Geneticists and Genetics Commentators Authors: Bertalan Meskó Tags: Genetic testing Genome Health Health 2.0 Innovation Invention Medicine Medicine 2.0 Mobile Personal Health Record Video Web 2.0 genetics Source Type: blogs
The origins of the Yakuts
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One of the more substantive consequences of the powerful new genomic techniques has been in the area of ancient DNA extraction and analysis. The Neandertal genome story is arguably the sexiest, but closer to the present day there've been plenty of results which have changed the way we look at the past. The input of genetics has basically demanded a revision of the contemporary consensus of the origins of the Etruscans which emerged from archaeology. Though certainly ancestry and genetic relationship are informative, ancient DNA has also given us windows into the change of function and a record of adaptation which rests les...
Source: Gene Expression - January 26, 2010 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
Common disease-common variant hypothesis taken down a notch (again)
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David Goldstein, a geneticist at Duke, has critiqued the current focus on large-scale genomwide associations before. Now he is taking to the next step, as his group has a paper out which suggests that the reason that association studies have been relatively unfruitful in terms of bang-for-buck is due to the fact that they're picking up "synthetic associations." Rare Variants Create Synthetic Genome-Wide Associations:
It has long been assumed that common genetic variants of modest effect make an important contribution to common human diseases, such as most forms of cardiovascular disease, asthma, and neuropsychiatric diseas...
Source: Gene Expression - January 26, 2010 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
Bat & whale echolocation genetic convergence
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In Bats and Whales, Convergence in Echolocation Ability Runs Deep:
..."However, it is generally assumed that most of these so-called convergent traits have arisen by different genes or different mutations. Our study shows that a complex trait -- echolocation -- has in fact evolved by identical genetic changes in bats and dolphins."
A hearing gene known as prestin in both bats and dolphins (a toothed whale) has picked up many of the same mutations over time, the studies show. As a result, if you draw a phylogenetic tree of bats, whales, and a few other mammals based on similarities in the prestin sequence alone, the echolo...
Source: Gene Expression - January 25, 2010 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
Lactase persistance in India
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Frequency of lactose malabsorption among healthy southern and northern Indian populations by genetic analysis and lactose hydrogen breath and tolerance tests:Volunteers from southern and northern India were comparable in age and sex. The LTT result was abnormal in 88.2% of southern Indians and in 66.2% of northern Indians...The lactose HBT result was abnormal in 78.9% of southern Indians and in 57.1% of northern Indians...The CC genotype was present in 86.8% and 67.5%...the CT genotype was present in 13.2% and 26.0%...and the TT genotype was present in 0% and 6.5%..of southern and northern Indians, respectively. The freque...
Source: Gene Expression - January 24, 2010 Category: Geneticists and Genetics Commentators Tags: India Population genetics Source Type: blogs
Doberman Pinscher with OCD
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In the wake of my post on selection and variation in dog skull shape, I thought it would be useful to point to this short paper, A canine chromosome 7 locus confers compulsive disorder susceptibility. Here's the conclusion:
The highly significant association of CCD with the CDH2 region on chromosome 7 is the first genetic locus identified for any animal compulsive disorder, and raises the intriguing possibility that CDH2 and other neuronal adhesion proteins are involved in human compulsive behaviors. A genetic association of cadherins with autism spectrum disorder, which often includes repetitive and compulsive behaviors, ...
Source: Gene Expression - January 24, 2010 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
Unreliable evidence? A look at DNA forensics
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DNA is largely considered to be the gold standard in forensics. If a suspect's DNA is found at the crime scene, it is compelling evidence for a conviction. But how is a DNA match determined? There are many places in our genetic code where there are short sequences that are repeated over and over. These repeated regions are called short tandem repeats or STRs. The places where these STRs occur are called loci. There are many variations in the lengths of STRs (I may have 5 repeats at a particular loci and you may have 8 ) and by looking at many different loci scientists create a kind of profile or human bar code ...
Source: Mary Meets Dolly - January 22, 2010 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
The Man Who Would Be A Barbarian
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This study is one of the first reports of the detailed genetic analysis of ancient human remains using the three types of genetic markers. The DNA analyses revealed that one subject was an ancient male skeleton with maternal U2e1 and paternal R1a1 haplogroups. This is the first genetic evidence that a male of distinctive Indo-European lineages (R1a1) was present in the Xiongnu of Mongolia. This might indicate an Indo-European migration into Northeast Asia 2,000 years ago. Other specimens are a female with mtDNA haplogroup D4 and a male with Y-SNP haplogroup C3 and mtDNA haplogroup D4. Those haplogroups are common in Northe...
Source: Gene Expression - January 21, 2010 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
Tiny dogs are freaks of evolution
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Sometimes scientists report on research which clarifies what we already know. 'Survival of the Cutest' Proves Darwin Right:
The study, published in The American Naturalist on January 20, 2010, compared the skull shapes of domestic dogs with those of different species across the order Carnivora, to which dogs belong along with cats, bears, weasels, civets and even seals and walruses.
It found that the skull shapes of domestic dogs varied as much as those of the whole order. It also showed that the extremes of diversity were farther apart in domestic dogs than in the rest of the order. This means, for instance, that a Colli...
Source: Gene Expression - January 20, 2010 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
Neurotalk
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[Image of the Banff Springs Hotel by Steph & Adam.]
Neuro Talk: Tap In, The Experts Weigh In
Short (1 to 2 min. each) interview clips in modules on major topics including brain scans, religion, neurolaw, cosmetic psychopharmacology, meditation, coma, and more from attendees at a neuroethics conference in Banff, Alberta. Non-resizable and unsharable custom video player, but great content. (Source: Channel N)
Source: Channel N - January 20, 2010 Category: Neurologists Authors: sandra at psychcentral.com (Sandra Kiume) Tags: General Interview brain CanCon genetics media meditation neuroethics neurolaw philosophy video Source Type: blogs
Face recognition not correlated with IQ
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Heritability of the Specific Cognitive Ability of Face Perception:
What makes one person socially insightful but mathematically challenged, and another musically gifted yet devoid of a sense of direction? Individual differences in general cognitive ability are thought to be mediated by "generalist genes" that affect many cognitive abilities similarly without specific genetic influences on particular cognitive abilities. In contrast, we present here evidence for cognitive "specialist genes": monozygotic twins are more similar than dizygotic twins in the specific cognitive ability of face perception. Each of three measures o...
Source: Gene Expression - January 20, 2010 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
Doggy Genes and OCD
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The timing couldn't be more perfect for an article in the New York Times on the genetics of compulsive behaviors in poochies.In Scientists Find a Shared Gene in Dogs with Compulsive Behavior, Mark Derr talks about the work of Dr. Nicholas Dodman on doberman's who compulsively suck their flanks (hmm, what exactly does that mean?) and a genetic link:Dr. Dodman and his collaborators searched for a genetic source for this behavior by scanning and comparing the genomes of 94 Doberman pinschers that sucked their flanks, sucked on blankets or engaged in both behaviors with those of 73 Dobermans that did neither. They also studied...
Source: Shrink Rap - January 20, 2010 Category: Psychiatrists and Psychologists Tags: genetics OCD dogs Source Type: blogs
Where are the "Paleolithic Europeans"?
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Over at my other blog I have a review up of a new paper in PLoS Biology. The authors argue that a particular Y haplogroup lineage, R1b1b2, which has often been assumed to be a marker of indigenous Paleolithic Europeans (i.e., those who were extant before the rise of agriculture and the spread of farmers), is actually a signature of Anatolians who brough agriculture. This probably isn't too surprising for the genetic genealogy nuts among the readers. After I got a copy of this paper I poked around the internet and the general finding that R1b1b2 was very diverse in the eastern Mediterranean seems to have been well known amo...
Source: Gene Expression - January 19, 2010 Category: Geneticists and Genetics Commentators Tags: European genetics Finn baiting Archaeology Source Type: blogs
European man perhaps a Middle Eastern farmer
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For the past few decades there has been a long standing debate as to the origins of modern Europeans. The two alternative hypotheses are:
* Europeans are descended from Middle Eastern farmers, who brought their Neolithic cultural toolkit less than 10,000 years ago.
* Europeans are descended from Paleolithic hunter-gatherers, who acculturated to the farming way of life through diffusion of ideas.
The two extreme positions are not really accepted in such stark forms by anyone. Rather, the debate is over the effect size of #1 vs. #2. Bryan Sykes, a geneticist at Oxford, has been arguing for the primacy of #2 for many years...
Source: Gene Expression - January 19, 2010 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
The few and the many
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John Hawks has some commentary on a Nicholas Wade article which previews a new paper on long term effective population size in humans, soon to be out in PNAS (Wade's piece states that it'll be out tomorrow, but it's PNAS). Wade states:They put the number at 18,500 people, but this refers only to breeding individuals, the "effective" population. The actual population would have been about three times as large, or 55,500....Geneticists have long known that the ancestors of modern humans numbered as few as 10,000 at some time in the last 100,000 years. The critically low number suggested that some catastrophe, like disease or...
Source: Gene Expression - January 19, 2010 Category: Geneticists and Genetics Commentators Tags: Population genetics Source Type: blogs
Minke whales not undergoing rapid demographic expansion
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Are Antarctic minke whales unusually abundant because of 20th century whaling?:
Severe declines in megafauna worldwide illuminate the role of top predators in ecosystem structure. In the Antarctic, the Krill Surplus Hypothesis posits that the killing of more than 2 million large whales led to competitive release for smaller krill-eating species like the Antarctic minke whale. If true, the current size of the Antarctic minke whale population may be unusually high as an indirect result of whaling. Here, we estimate the long-term population size of the Antarctic minke whale prior to whaling by sequencing 11 nuclear genetic ma...
Source: Gene Expression - January 18, 2010 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
People evolving to be shorter & stouter
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One of the things about evolution you sometimes hear is that it has "stopped" for humans. Steve Jones, a British geneticist, is one of the more prominent public expositors of this viewpoint today. The key fact that most people latch on to is that infant and child mortality is very low, so the vast majority of humans reach the age of potential reproduction. Random genetic drift aside, evolution via natural selection does not necessarily need differential mortality as a necessary precondition (though this is obviously an efficacious mechanism from the viewpoint of evolution). All that needs to occur is for reproductive fitne...
Source: Gene Expression - January 18, 2010 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
Pardis Sabeti in The Boston Globe
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Researchers find clues to evolution by studying genes of living people. It's a profile of her groups compositetest for natural selection. Read the comments on this post... (Source: Gene Expression)
Source: Gene Expression - January 18, 2010 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
Dogs adapting to urban ecologies
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A friend pointed me to this fascinating article about stray dogs in Moscow:
... It has become a symbol for the 35,000 stray dogs that roam Russia's capital - about 84 dogs per square mile. You see them everywhere. They lie around in the courtyards of apartment complexes, wander near markets and kiosks, and sleep inside metro stations and pedestrian passageways. You can hear them barking and howling at night. And the strays on Moscow's streets do not look anything like the purebreds preferred by status-conscious Muscovites. They look like a breed apart.
...
They also acted differently. Every so often, you would see one wa...
Source: Gene Expression - January 18, 2010 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
More genes implicated in type 2 diabetes risk
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New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk:
Levels of circulating glucose are tightly regulated. To identify new loci influencing glycemic traits, we performed meta-analyses of 21 genome-wide association studies informative for fasting glucose, fasting insulin and indices of beta-cell function (HOMA-B) and insulin resistance (HOMA-IR) in up to 46,186 nondiabetic participants. Follow-up of 25 loci in up to 76,558 additional subjects identified 16 loci associated with fasting glucose and HOMA-B and two loci associated with fasting insulin and HOMA-IR. These include nin...
Source: Gene Expression - January 17, 2010 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
MAOA Gene Influences Gambling Versus Risk Aversion
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Some researchers at Hebrew U, National University of Hong Kong, and Hong Kong U have taken a look at whether a gene for breaking down neurotransmitters (e.g. serotonin, norepinephrine, epinephrine, and dopamine) influences risk taking behavior If you like to gamble rather than buy insurance you can blame it on your monoamine oxidase A gene (MAOA) high activity allele. Decision making often entails longshot risks involving a small chance of receiving a substantial outcome. People tend to be risk preferring (averse) when facing longshot risks involving significant gains (losses). This differentiation towards longshot risks u...
Source: FuturePundit - January 15, 2010 Category: Health Medicine and Bioethics Commentators Authors: Randall Parker Tags: Brain Genetics Source Type: blogs
On the Y
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Here's the link to the new paper in Naure on the evolution of the human & chimp Y chromosome, Chimpanzee and human Y chromosomes are remarkably divergent in structure and gene content. ScienceDaily and The New York Times have summaries up. Wonder if there'll be future editions of Adam's Curse.... (Source: Gene Expression)
Source: Gene Expression - January 13, 2010 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
Goldstein: Personalized Medicine in 2020
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-from NaturePersonalized medicineDavid B. GoldsteinDuke UniversityOver the past decade, powerful genotyping tools have allowed geneticists to look at common variation across the entire human genome to identify the risk factors behind many diseases. Two striking findings will define the study of disease for the decade to come. First, common genetic variation seems to have only a limited role in determining people's predisposition to many common diseases. Second, gene variants that are very rare in the general population can have outsized effects on predisposition.For example, rare mutations that cause the elimination of chu...
Source: Shrink Rap - January 13, 2010 Category: Psychiatrists and Psychologists Tags: genetics pharmacogenetics future medicine Source Type: blogs
How Columbus was not a seer
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A week ago I pointed out that in some visualizations of world wide population variation South Asians & mestizos seem to overlap which each other to a great extent. The reason for this is that both populations can be modeled as admixtures between two separate, but related, populations. Mestizos are the products of pairings between Europeans and indigenous America populations, while South Asians seem to be a stabilized hybrid population which emerged from the fusion of a West Eurasian (closely related to European) and East Eurasian (distantly related to East Asians) populations. The East Eurasian ancestors of South Asians ma...
Source: Gene Expression - January 13, 2010 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
Dog selection
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Tracking footprints of artificial selection in the dog genome:
The size, shape, and behavior of the modern domesticated dog has been sculpted by artificial selection for at least 14,000 years. The genetic substrates of selective breeding, however, remain largely unknown. Here, we describe a genome-wide scan for selection in 275 dogs from 10 phenotypically diverse breeds that were genotyped for over 21,000 autosomal SNPs. We identified 155 genomic regions that possess strong signatures of recent selection and contain candidate genes for phenotypes that vary most conspicuously among breeds, including size, coat color and tex...
Source: Gene Expression - January 12, 2010 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
Genetic Future's Twitter summary
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Check it out. Claims he'll do it weekly. More power to him, I feel a bit overwhelmed by all the social media stuff at this point (I'm sure I'm not alone), so anyone who is willing to human-filter the data gets my support. Read the comments on this post... (Source: Gene Expression)
Source: Gene Expression - January 11, 2010 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
Jewish peoplehood, what does science say?
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The New Republic has published a review of the book The Invention of the Jewish People. There is a genetic aspect to the story:
But in fact we can go far back in time, with the help of historical DNA studies, which have burgeoned in the last twenty years, and the most disgraceful pages in Sand's book are those in which he displays an ignorant disdain for the work that has been done in this field by serious investigators. Without the least apparent understanding of how historical genetics works or what it can tell us, he attacks some of its most distinguished practitioners, such as Batsheva Bonné-Tamir of Tel Aviv Universi...
Source: Gene Expression - January 11, 2010 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
Top 10 SNPs of the year?
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Weird but fun list, SNPedia's Top 10 SNPs of the Year:
SNPedia now contains nearly 10,000 SNPs and to welcome 2010 we'd like to highlight at least 10. These SNPs have been selected based on an elusive and ultimately subjective combination of medical importance, statistical believability, and overall general interest. This isn't objective science though, so feel free to comment about why your favorite SNPs should have made the list.
H/T Eye on DNA. Read the comments on this post... (Source: Gene Expression)
Source: Gene Expression - January 10, 2010 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
Eurogene.eu: Open Community for Medical Genetics
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A new initiative called EUROGENE is an open community portal which provides a vast amount of multimedia educational materials in the field of genetic medicine. Authors and educators can freely use it to publish and organize their own materials or to create new teaching courses. There are now almost 90,000 content units on the site.
There is a domain specific Ontology as well as advanced multilingual search tools that can guide users in the editing and “assembly” of educational packages. Thanks to the use of the Eurogene Ontology, these materials are annotated with the relevant concepts and automatically correl...
Source: ScienceRoll - January 10, 2010 Category: Geneticists and Genetics Commentators Authors: Bertalan Meskó Tags: Community Site Medicine Medicine 2.0 genetics science Source Type: blogs
Top 10 SNPs on SNPedia.com
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SNPedia is a wiki investigating human genetics, sharing information about the effects of variations in DNA, citing peer-reviewed scientific publications. The blog of SNPedia just published the list of the 10 most popular SNPs accessed on the site.
SNPedia now contains nearly 10,000 SNPs and to welcome 2010 we’d like to highlight at least 10. These SNPs have been selected based on an elusive and ultimately subjective combination of medical importance, statistical believability, and overall general interest. This isn’t objective science though, so feel free to comment about why your favorite SNPs should have made...
Source: ScienceRoll - January 10, 2010 Category: Geneticists and Genetics Commentators Authors: Bertalan Meskó Tags: List Medicine Web 2.0 Wiki genetics Source Type: blogs
Localizing recent positive selection in humans using multiple statistics
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Online this week in Science, a group presents a method for identifying genes under positive selection in humans, and gives some examples. I have somewhat mixed feelings about this paper, for reasons I'll get to, but here's their basic idea:Readers of this site will likely be familiar with genome-wide scans for loci under positive selection in humans (see, eg., the links in this post). In such a scan, one decides on a statistic that measured some aspect of the data that should be different between selected loci and neutral loci--for example, extreme allele frequency differences between populations, or long haplotypes at hig...
Source: Gene Expression - January 9, 2010 Category: Geneticists and Genetics Commentators Tags: Population genetics Source Type: blogs
Elevated Proteins May Warn of Ovarian Cancer, But Sufficient Lead Time & Predictive Value Still Lacking
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Fred Hutchinson Cancer Center researchers discovered that concentrations of the serum biomarkers CA125, human epididymis protein 4 (HE4), and mesothelin began to rise 3 years before clinical diagnosis of ovarian cancer, according to a new study published online December 30 in the Journal of the National Cancer Institute. However, the biomarkers became substantially elevated only [...] (Source: Libby's H*O*P*E*)
Source: Libby's H*O*P*E* - January 7, 2010 Category: Cancer Authors: Paul Cacciatore Tags: Biomarker Discoveries Early Detection Genetics Medical Study Results B7-H4 beta-carotene biomarkers BRCA gene mutations BRCA1 gene BRCA2 gene CA125 CARET Carotene & Retinol Efficacy Trial decoy receptor 3 Division of Cancer E Source Type: blogs
Composite test for positive selection in the genome
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A Composite of Multiple Signals Distinguishes Causal Variants in Regions of Positive Selection:
The human genome contains hundreds of regions whose patterns of genetic variation indicate recent positive natural selection, yet for most the underlying gene and the advantageous mutation remain unknown. We developed a method, Composite of Multiple Signals (CMS), that combines tests for multiple signals of selection and increases resolution by up to 100-fold. Applying CMS to candidate regions from the International Haplotype Map, we localized population-specific selective signals to 55 kb (median), identifying known and novel c...
Source: Gene Expression - January 7, 2010 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
The genetics of Scottish hair color variation
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In the aughts the elucidation of human pigmentation genetics was of one the major successes of 'omic' techniques. The fact that humans exhibit some continuous variation in complexion was strongly suggestive that more than one gene was at work to generate the range of the phenotype. On the other hand pedigree based studies going back to the 1960s suggested that only a modest number of large effect genetic variants were producing the variance. Today we can say with reasonable certainty that about half a dozen genes account for almost all the between population variation in pigmentation. For example, on the order of 1/3 of th...
Source: Gene Expression - January 7, 2010 Category: Geneticists and Genetics Commentators Tags: Genetics Source Type: blogs
How Chinese relate to each other and the Japanese
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Last month I pointed to a paper on Chinese population structure, Genomic Dissection of Population Substructure of Han Chinese and Its Implication in Association Studies. One to note was that the average FST differentiation Han populations was on the order of 0.002, while those differentiating Europeans was on the order of 0.009. Below are the various Han population, along with Japanese. CHB = Beijing, while CHD = Denver. The Denver sample is probably biased toward Cantonese and Fujianese, since most American Chinese are from these two groups. As a point of reference, here are South Asian genetic distances. (Source: Gene Expression)
Source: Gene Expression - January 6, 2010 Category: Geneticists and Genetics Commentators Tags: China Genetics Source Type: blogs
