Cryptic Variation in the Human Mutation Rate
نویسندگان
چکیده
منابع مشابه
Cryptic Variation in the Human Mutation Rate
The mutation rate is known to vary between adjacent sites within the human genome as a consequence of context, the most well-studied example being the influence of CpG dinucelotides. We investigated whether there is additional variation by testing whether there is an excess of sites at which both humans and chimpanzees have a single-nucleotide polymorphism (SNP). We found a highly significant e...
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Mutation is the ultimate source of genetic variation, and mutation rate is thus an important parameter governing the extent of genetic variation. Microsatellites are highly informative genetic markers that have been widely used in genetic studies. While previous studies showed that the mutation rate differs in di-, tri-, and tetranucleotide repeats, how mutation rate distributes within each cla...
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Background: The human gut microbiome harbors microbes that perform diverse biochemical functions. Previous work suggested that functional variation between gut microbiota is small relative to taxonomic variation. However, these conclusions were largely based on broad pathways and qualitative patterns. Identifying microbial genes with highly variable or invariable abundance across hosts requires...
متن کاملHow Much of the Variation in the Mutation Rate Along the Human Genome Can Be Explained?
It has been claimed recently that it may be possible to predict the rate of de novo mutation of each site in the human genome with a high degree of accuracy [Michaelson et al. (2012), Cell 151: 1431-1442]. We show that this claim is unwarranted. By considering the correlation between the rate of de novo mutation and the predictions from the model of Michaelson et al., we show there could be sub...
متن کاملThe Role of Mutation Rate Variation and Genetic Diversity in the Architecture of Human Disease
BACKGROUND We have investigated the role that the mutation rate and the structure of genetic variation at a locus play in determining whether a gene is involved in disease. We predict that the mutation rate and its genetic diversity should be higher in genes associated with disease, unless all genes that could cause disease have already been identified. RESULTS Consistent with our predictions...
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ژورنال
عنوان ژورنال: PLoS Biology
سال: 2009
ISSN: 1545-7885
DOI: 10.1371/journal.pbio.1000027