Mar 29, 2020

Focusing on human haplotype diversity in numerous individual genomes demonstrates an evolutional feature of each locus

BioRxiv : the Preprint Server for Biology
Benjamin M SkinnerChris Tyler-Smith


The application of current genome-wide sequencing techniques on human populations helps elucidate the considerable gene flow among genus Homo, which includes modern and archaic humans. Gene flow among current human populations has been studied using frequencies of single nucleotide polymorphisms. Unlike single nucleotide polymorphism frequency data, haplotype data are suitable for identifying and tracing rare evolutionary events. Haplotype data can also conveniently detect genomic location and estimate molecular function that may be a target of selection. We analyzed eight loci of the human genome using the same procedure for each locus to infer human haplotype diversity and reevaluate past explanations of the evolutionary mechanisms that affected these loci. These loci have been recognized by separate studies because of their unusual gene genealogy and geographic distributions that are inconsistent with the recent out-of-Africa model. For each locus, we constructed genealogies for haplotypes using sequence data of the 1000 Genomes Project. Then, we performed S* analysis to estimate distinct gene flow events other than out-of-Africa events. Furthermore, we also estimated unevenness of selective pressure between haplotypes by Ex...Continue Reading

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Mentioned in this Paper

Benign Neoplasm of Testis
Y Chromosome
Chromosomes, Human, X
Neoplasm of Uncertain or Unknown Behavior of Testis
NRF1 gene
Research Project
Nucleic Acid Sequencing
Homologous Sequences, Amino Acid
X Chromosome

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