Dataset Information

Diversification of the ADH1B gene during expansion of modern humans.

ABSTRACT: A variant allele, ADH1B*48His, also known as ADH1B*2, at the human Alcohol Dehydrogenase 1B gene (ADH1B) is strongly associated with alcoholism in some populations and has an unusual geographic distribution. Strong evidence implies selection has increased the frequency of this allele in some East Asian populations but does not fully explain its geographic pattern. We have studied haplotypes of 10 single nucleotide polymorphisms (SNPs) and two short tandem repeat polymorphisms (STRPs) in the ADH1B region in 2,206 individuals from a worldwide set of populations. These SNPs and STRPs define nine common haplogroups most of which have distinct geographic patterns. The haplogroups H5 and H6, both with the derived ADH1B*48His allele, appear restricted to the Middle East and East Asia, respectively. The positively selected H7 is derived from H6 by a new regulatory region variant defining SNP rs3811801 restricted to East Asia. Age estimates of the haplogroups based on the STRPs also agree with the time of the migration events estimated by other studies. H7 is estimated to have expanded recently, around 2,800 years ago, and ancient DNA samples from North China confirm its presence about that time. The dating of the H7 expansion may help understand the selective force on the ADH1B gene.

SUBMITTER: Li H

PROVIDER: S-EPMC3722864 | biostudies-literature | 2011 Jul

REPOSITORIES: biostudies-literature

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Diversification of the ADH1B gene during expansion of modern humans.

Li Hui H Gu Sheng S Han Yi Y Xu Zhi Z Pakstis Andrew J AJ Jin Li L Kidd Judith R JR Kidd Kenneth K KK

Annals of human genetics 20110518 4

A variant allele, ADH1B*48His, also known as ADH1B*2, at the human Alcohol Dehydrogenase 1B gene (ADH1B) is strongly associated with alcoholism in some populations and has an unusual geographic distribution. Strong evidence implies selection has increased the frequency of this allele in some East Asian populations but does not fully explain its geographic pattern. We have studied haplotypes of 10 single nucleotide polymorphisms (SNPs) and two short tandem repeat polymorphisms (STRPs) in the ADH1 ...[more]

PMID: 21592108

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Project description:BackgroundUnderstanding the dynamics of the human range expansion across northeastern Eurasia during the late Pleistocene is central to establishing empirical temporal constraints on the colonization of the Americas. Opinions vary widely on how and when the Americas were colonized, with advocates supporting either a pre- or post- last glacial maximum (LGM) colonization, via either a land bridge across Beringia, a sea-faring Pacific Rim coastal route, a trans-Arctic route, or a trans-Atlantic oceanic route. Here we analyze a large sample of radiocarbon dates from the northeast Eurasian Upper Paleolithic to identify the origin of this expansion, and estimate the velocity of colonization wave as it moved across northern Eurasia and into the Americas.Methodology/principal findingsWe use diffusion models to quantify these dynamics. Our results show the expansion originated in the Altai region of southern Siberia approximately 46kBP , and from there expanded across northern Eurasia at an average velocity of 0.16 km per year. However, the movement of the colonizing wave was not continuous but underwent three distinct phases: 1) an initial expansion from 47-32k calBP; 2) a hiatus from approximately 32-16k calBP, and 3) a second expansion after the LGM approximately 16k calBP. These results provide archaeological support for the recently proposed three-stage model of the colonization of the Americas. Our results falsify the hypothesis of a pre-LGM terrestrial colonization of the Americas and we discuss the importance of these empirical results in the light of alternative models.Conclusions/significanceOur results demonstrate that the radiocarbon record of Upper Paleolithic northeastern Eurasia supports a post-LGM terrestrial colonization of the Americas falsifying the proposed pre-LGM terrestrial colonization of the Americas. We show that this expansion was not a simple process, but proceeded in three phases, consistent with genetic data, largely in response to the variable climatic conditions of late Pleistocene northeast Eurasia. Further, the constraints imposed by the spatiotemporal gradient in the empirical radiocarbon record across this entire region suggests that North America cannot have been colonized much before the existing Clovis radiocarbon record suggests.

Dataset Information

Diversification of the ADH1B gene during expansion of modern humans.

Publications

Diversification of the ADH1B gene during expansion of modern humans.

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