Что будет на встрече : Estimating the Mutation Load in Diverse Human Genomes
Next-generation sequencing technology has facilitated the discovery of millions of genetic variants in human genomes.
A sizeable fraction of these variants are predicted to be deleterious.
Here, I review the pattern of deleterious alleles as ascertained in genome sequencing data sets and ask whether human populations differ in their predicted burden of deleterious alleles — a phenomenon known as “mutation load”. Population genetic theory predicts an increase of mutational load in populations undergoing serial founder effects across a geographic range, as would have occurred during the migration Out of Africa tens of thousands of years ago. To test this hypothesis, we have sequenced full genomes and high-coverage exomes from 7 geographically divergent human populations from Namibia, Congo, Algeria, Pakistan, Cambodia, Siberia and Mexico.
We show via spatially explicit simulations that the observed distribution of deleterious allele frequencies is consistent with the Out of Africa dispersal, particularly under a model where deleterious mutations are recessive. I emphasize why accurate estimation of mutation load depends on assumptions regarding the distribution of dominance and selection coefficients — quantities that remain poorly characterized for current genomic data sets.
The Henn Lab investigates patterns of human genetic diversity and evolution by pairing genomic datasets with information about phenotype, language and prehistory. The lab is committed to understanding genetic diversity in under-represented populations and testing the hypothesis that the determinants of phenotypic traits and disease in these populations may be influenced by alleles that are population-specific or generally rare. We are broadly interested in refining models of human migration and understanding the adaptive significance of healthy phenotypes such as life history traits, pigmentation and disease resistance. We are particularly focused on the complex demographic history of African populations. In collaboration with African geneticists, we currently work with Khoe-San populations at several field sites in the Kalahari Desert and Richtersveld to collect DNA samples, ethnographic data and basic phenotypes like skin pigmentation and height. By leveraging reduced environmental variability in these populations, low linkage disequilbrium and historical endogamy, we can jointly address questions regarding the genetic basis for different phenotypes and their evolutionary history. Are there loci of large effect for height and skin pigmentation? Are estimates of heritability for these phenotypes similar or different to estimates from cosmopolitan populations? Was the ancestral population of humans of short stature or tall? We are affiliated with the Graduate Programs in Ecology and Evolution, Genetics and Anthropology at Stony Brook.
Ведущая – Бренна Хен
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Когда Wednesday, July 29, 2015 from 9:00 AM to 10:30 AM
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