Inferring human history in East Asia from Y chromosomes

Abstract

East Asia harbors substantial genetic, physical, cultural and linguistic diversity, but the detailed structures and interrelationships of those aspects remain enigmatic. This question has begun to be addressed by a rapid accumulation of molecular anthropological studies of the populations in and around East Asia, especially by Y chromosome studies. The current Y chromosome evidence suggests multiple early migrations of modern humans from Africa via Southeast Asia to East Asia. After the initial settlements, the northward migrations during the Paleolithic Age shaped the genetic structure in East Asia. Subsequently, recent admixtures between Central Asian immigrants and northern East Asians enlarged the genetic divergence between southern and northern East Asia populations. Cultural practices, such as languages, agriculture, military affairs and social prestige, also have impacts on the genetic patterns in East Asia. Furthermore, application of Y chromosome analyses in the family genealogy studies offers successful showcases of the utility of genetics in studying the ancient history.

A single-tube 27-plex SNP assay for estimating individual ancestry and admixture from three continents

“…The Khanty in West Siberian (KWS) had a median East Asian ancestry of 0.413, which is consistent with our previous study [15]. In a Y chromosome study, haplogroup C3-M217 reaches the highest frequencies among the populations of Mongolia and Siberia [37], indicating possible admixture of the East Asian component into Khanty.…”

“…However, in our study, no Native American populations were involved, and no Native American-specific markers selected. Native Americans have common ancestry with East Asians [35,36] and cluster closely together using Y chromosome haplogroups [37] and autosomal SNPs [33]. All of the above may result in East Asian replacement in MEX and HLA.…”

Enriching the knowledge on East Asia populations: Characterization of male lineages from Macau and Shanghai

“…Furthermore, in mainland China frequencies of haplogroup O-M175 have been consistently reported above 75%, scattered across its three major clades: O1a-M119, O2a-M95 and O3-M122. [2,3,4]. The phylogeny of haplogroup O-M175 only recently began to be finely dissected.…”

Confirmation of Y haplogroup tree topologies with newly suggested Y-SNPs for the C2, O2b and O3a subhaplogroups

“…YSNPs are also useful for investigating the history of human migration because of their low mutation rate. Specifically, Y-SNPs are used to reconstruct male lineages through hierarchically-arranged allelic sets known as haplogroups, and their continent-specific characteristics enable researchers to infer the biogeographic ancestry of an individual through the haplogroup identification [7,[10][11][12][13][14][15][16]. Hence, an up-to-date extended Y-chromosomal phylogeny based on Y-SNP markers that are preferably unambiguous and have high discriminative power is required for forensic applications [7].…”