Characteristics of Mongoloid and neighboring populations based on the genetic markers of human immunoglobulins

Summary Since the discovery in 1966 of the Gm ab3st gene, which characterizes Mongoloid populations, the distribution of allotypes of immunoglobulins (Gm) among Mongoloid populations scattered from Southeast Asia through East Asia to South America has been investigated, and the following conclusions can be drawn: 1. Mongoloid populations can be characterized by four Gm haplotypes, Gm ag, axg, ab3st, and afb1b3, and can be divided into two groups based on the analysis of genetic distances utilizing Gm haplotype frequency distributions: the first is a southern group characterized by a remarkably high frequency of Gm afb1b3 and a low frequency of Gm ag, and the second, a northern group characterized by a high frequency of both Gm ag and Gm ab3st but an extremely low frequency of Gm afb1b3. 2. Populations in China, mainly Han but including minority nationalities, show remarkable heterogeneity of Gm allotypes from north to south and contrast sharply to Korean and Japanese populations, which are considerably more homogenous with respect to these genetic markers. The center of dispersion of the Gm afb1b3 gene characterizing southern Mongoloids has been identified as the Guangxi and Yunnan area in the southwest of China. 3. The Gm ab3st gene, which is found with its the highest incidence among the northern Baikal Buriats, flows in all directions. However, this gene shows a precipitous drop from mainland China to Taiwan and Southeast Asia and from North to South America, although it is still found in high frequency among Eskimos, Koryaks, Yakuts, Tibetans, Olunchuns, Tungus, Koreans, Japanese, and Ainus. On the other hand, the gene was introduced into Huis, Uyghurs, Indians, Iranians, and spread as far as to include Hungarians and Sardinians in Italy. On the basis of these results, it is concluded that the Japanese race belongs to northern Mongoloids and that the origin of the Japanese race was in Siberia, and most likely in the Baikal area of the Soviet Union.     

免疫球蛋白同种异型Gm因子在四十个中国人群中的分布

根据免疫球蛋白同种异型Gm因子在维吾尔族、哈萨克族、回族、蒙古族、朝鲜族、藏族、鄂伦春族、壮族、侗族、白族、汉族等40个人群中的分布,计算Gm单倍型频率及遗传距离,提出了“中华民族以北纬30度为界,分南北两大发源地”的假说。     

On the origin of the Chinese nation: The distribution of immunoglobulin allotypes in forty Chinese populations

Data from population and family studies show that the human immunoglobulin Gm allotypes prove to be unique genetic markers in studies of human genetics, particularly in the characterization of different race or population determined by the differences in Gm hapolotype composition and its frequency. In this paper, a total of 5,641 individuals from 40 populations were typed for Gma, f, x, b, and g factors. The genetic distances between 13 minorities (Zhuang, Uygur, Dong, Hui, Korean, Kazak, Bai, Tibetan, Mongolian, and Oroqen) and 27 Han populations were computed by Nei's method on the basis of Gm haplotype frequencies and a phylogenetic tree was constructed. The conclusions were (1) The common Gm haplotype are afb, axg, a, and ag. The Gmfb haplotype is observed only in Uygur, Hui, and Kazak. (2) There is a parallel relationship between genetic distance and geographic distance for these populations. (3) The Gmafb haplotype frequency increases sharply from north to south, and there is a concomitant sharp decrease in ag and axg frequencies. (4) A hypothesis was proposed by the author that the origin of the Chinese nation might exist in both the Yellow River and the Yangtze River region and the most likely boundary between the Southern and the Northern Chinese is near the thirty degrees north latitude.     

Gm and Km allotypes in 74 Chinese populations: a hypothesis of the origin of the Chinese nation

Summary This paper reports the distribution of immunoglobulin Gm and Km allotypes in 74 Chinese geographical populations. These populations are derived from 24 nationalities comprising 96.6% of the total population of China. A total of 9,560 individuals were phenotyped for Gm(1,2,3,5,21) factors, and 9,611 were phenotyped for Km(1). Phylogenetic trees were constructed on the basis of Gm haplotype frequencies and genetic distances. The results of cluster analysis show the heterogeneity of the Chinese nation, and confirm the hypothesis that the modern Chinese nation originated from two distinct populations, one population originating in the Yellow River valley and the other originating in the Yangtze River valley during early neolithic times (3,000–7,000 years ago). Frequencies of the Gm haplotype of 74 Chinese populations were compared with those of 33 populations from major racial groups. The results suggest that during human evolution, the Negroid group and Caucasoid-Mongoloid group diverged first, followed by a divergence between the Caucasoid and Mongoloid. Interrace divergence is high in comparison with intrarace divergence. There appear to be two distinct subgroups of Mongoloid, northern and southern Mongoloid. The northern and southern Mongoloid have Gm^1;21 and Gm^1,3;5 haplotypes as race-associate markers, respectively. Furthermore, the Caucasian-associated haplotype Gm^3;5 was found in several of the minorities living in the northwest part of China. The presence of the Gm^3;5 haplotype is attributed to the Caucasians living in Central Asia throughout the Silk Road. The amount of Caucasian admixture has been estimated. In contrast to the Gm haplotype distribution, Km¹ gene frequencies showed a random distribution in the populations studied.     

中国人免疫球蛋白同种异型的研究:中华民族起源的一个假说

调查了我国24个民族、74个群体的免疫球蛋白同种异型Gm、Km分布。测定了9560例个体的Gm(1,2,3,5,21)因子和9611例个体的Km(1)因子。根据Gm单体型频率计算了遗传距离并绘制了系统树。结果支持作者早前提出的有关中华民族起源于古代两个不同群体的假说。这两个群体大致以北纬30度为界,分别居栖在黄河和长江流域。本文数据和其他主要人种的Gm分布资料相比较,作者认为在人类进化中,尼格鲁人种首先和高加索-蒙古人种分离;然后高加索人种和蒙古人种分离。不同人种间的差异,大于同一人种内不同群体间的差异。蒙古人种明显地被分为南、北两大类型,分别以具有高频率的Gm~(1;21)和Gm~(1,3;5)单体型作为种族的标记。与高加索人种关联的Gm~(3;5)单体型存在于中国西北地区的少数民族中,提示混有高加索人种血缘。很可能来源于中亚地区的高加索人,通过“丝绸之路”进入中国。Km因子在所调查的74个群体中呈随机分布。     

Brief communication: immunoglobulin (Gm and Km) allotypes in two populations of Catalonia (Spain)

Serum samples from two populations of Catalonia, Spain, 208 from Olot (Gerona) and 209 from Tortosa (Tarragona), were typed for G1m (1, 2, 3, 17), G3m (5, 10, 11, 13, 14, 15, 16, 26), and Km (1). The Gm patterns of the Catalonian populations are characterized by the presence of four haplotypes, Gm 1,17;21,26 Gm 1,2,17;21,26 Gm 1,3;5,10,11,13,14,26 and Gm 3;5,10,11,13,14,26. The homogeneity for haplotype Gm 1,17;21,26 among our data and other European populations suggests the existence of an isofrequency line which starts from the Mediterranean zone of Iberian Peninsula and continues through the northwestern part of Europe. From this line a decreasing cline towards the south can be observed. For the haplotype Gm 1,2;17,21,26, affinities are observed between Catalonian populations and other populations from central Europe. This confirms the existence of a gradient towards low values from NW to SE. The presence of the typical Mongoloid haplotype Gm 1,3;5,10,11,13,14,26 is discussed in this paper. No significant differences in the frequencies of the Km1 allele were observed among the European populations.     

Phylogeography of the Coastal Mosquito Aedes togoi across Climatic Zones: Testing an Anthropogenic Dispersal Hypothesis

The coastal mosquito Aedes togoi occurs more or less continuously from subarctic to subtropic zones along the coasts of the Japanese islands and the East Asian mainland. It occurs also in tropical Southeast Asia and the North American Pacific coast, and the populations there are thought to have been introduced from Japan by ship. To test this hypothesis, the genetic divergence among geographic populations of A. togoi was studied using one mitochondrial and three nuclear gene sequences. We detected 71 mitochondrial haplotypes forming four lineages, with high nucleotide diversity around temperate Japan and declining towards peripheral ranges. The major lineage (L1) comprised 57 haplotypes from temperate and subarctic zones in Japan and Southeast Asia including southern China and Taiwan. Two other lineages were found from subtropical islands (L3) and a subarctic area (L4) of Japan. The Canadian population showed one unique haplotype (L2) diverged from the other lineages. In the combined nuclear gene tree, individuals with mitochondrial L4 haplotypes diverged from those with the other mitochondrial haplotypes L1—L3; although individuals with L1—L3 haplotypes showed shallow divergences in the nuclear gene sequences, individuals from Southeast Asia and Canada each formed a monophyletic group. Overall, the genetic composition of the Southeast Asian populations was closely related to that of temperate Japanese populations, suggesting recent gene flow between these regions. The Canadian population might have originated from anthropogenic introduction from somewhere in Asia, but the possibility that it could have spread across the Beringian land bridge cannot be ruled out.     

GM allotypes in Native Americans: evidence for three distinct migrations across the Bering land bridge

We report the results of typings, for immunoglobulin G allotypes, of 5392 Native Americans from ten samples, the typings having been performed over the last 20 years. Four cultural groups are represented: the Pimans-Pima and Papago; the Puebloans-Zuni and Hopi; the Pai-Walapai; and the Athabascans-Apache and Navajo. The haplotype Gm1;21 has the highest frequency in each population while Gm1,2;21 is polymorphic in all except the Hopi. The Mongoloid marker Gm1;11,13 is found primarily in the Athabascans. The Caucasian haplotype Gm3;5,11,13 is found at polymorphic frequencies in several of the populations but its frequency is very low or absent among nonadmixed individuals. Although Nei's standard genetic distance analysis demonstrates genetic similarity at the Gm and Km loci, the heterogeneity that does exist is consistent both with what is known about the prehistory of Native Americans and traditional cultural categories. When the current Gm distributions are analyzed with respect to the three-migration hypothesis, there are three distinct Gm distributions for the postulated migrants: Gm1;21 and Gm1,2;21 for the Paleo-Indians 16,000 to 40,000 years ago; Gm1;21, Gm1,2;21, and Gm1;11,13 for the second wave of Na-Dene hunters 12,000 to 14,000 years ago; and Gm1;21 and Gm1;11,13 for the Eskimo-Aleut migration 9,000 years ago. The Pimans, Puebloans, and the Pai are descendents of the Paleo-Indians while the Apache and Navajo are the contemporary populations related to the Na-Dene. Finally, the Gm distribution in Amerindians is found to be consistent with a hypothesis of one migration of Paleo-Indians to South American, while the most likely homeland for the three ancestral populations is found to be in northeastern Asia.     

Immunoglobulin (Gm) allotypes in a sample of Canadian Ashkenazic Jews

Gm typing on the serum specimens of 507 Ashkenazic Jews (pre-dominantly of Polish-Russian ancestry) from Toronto, Canada has established the presence of haplotypes Gm3;5, Gm1;21, Gm1,2;21, and Gm1,17;5, and the absence of haplotypes Gm1;13,15,16, Gm1;5,6, and Gm1;5,6,24 which have been found in other Jewish peoples. It is suggested that Ashkenazic populations have lower frequencies of haplotype Gm1,17;5 than non-European Jewish populations, and that some eastern European Jewish populations have acquired the Gm1;13,15,16 haplotype through gene flow from Central Asia. Thus Jewish populations show differences in the Gm system; many of the differences may be in the direction of similarities to neighbouring non-Jewish populations.     

Distribution of Gm and Km allotypes among five populations in China

Serum samples from five populations in China [173 from Huhehote (Naimengu Zhizhiqu), 195 from the Beijing area, 131 from Hefei (Anhui Province), 155 from Hangzhou (Zhejiang Province), and 152 from Guangzhou (Guangdong Province)] were tested for G1m(1, 2, 3, and 17), G2m(23), G3m(5, 10, 11, 13, 14, 15, 16, 21, and 26), and Km(1). The Gm pattern of the Chinese populations are characterized by the presence of four haplotypes, Gm1, 17;..;21, 26, Gm1, 2, 17;..;21, 26, Gm1, 17;..;10, 11, 13, 15, 16, and Gm1, 3;23;5, 10, 11, 13, 14, 26, which are characteristic of Mongoloid populations. Agreement was obtained in all Chinese samples between the observed and expected frequencies on the basis of the Hardy-Weinberg equilibrium of phenotypes. Heterogeneity tests of the haplotypic distributions among the five populations showed no significant differences in the distributions of Gm phenotypes between Huhehote and Beijing nor between Hefei and Hangzhou, whereas highly significant differences were observed among the three districts: northern part (Huhehote and Beijing), central part (Hefei and Hangzhou), and southern part (Guangzhou). The data indicate a south to north genocline, ranging from Huhehote to Guangzhou in which Gm1, 17;..;21, 26 changes from 0.471 to 0.183, Gm1, 17;..;10, 11, 13, 15, 16 from 0.097 to 0.033, and Gm1, 3;23;5, 10, 11, 13, 14, 26 from 0.229 to 0.730. In contrast to the Gm system, no significant regional differences in the frequencies of the Km1 allele were observed among the five populations.     

Hemoglobin E distribution in ten endogamous population groups of Assam, India

Previous studies have reported a high incidence of hemoglobin E (HbE) in Northeast Indian populations. In the present study 10 endogamous populations of Assam belonging to two racial groups, Caucasoid and Mongoloid, were examined. The frequency of HbE gene (Hb beta E) in the Caucasoid caste populations is around 0.1, whereas the gene is highly prevalent in the Mongoloid populations, frequencies ranging between 0.2 and 0.6. Predominance of Hb beta E in the Tibeto-Burman speakers is contrary to observations made in Southeast Asia, where an association between Austro-Asiatic speakers and high prevalence of HbE exist. The highest occurrence of the gene in this area, which is on the far end of the proposed centre of distribution in Northern Kampuchea and Northeast Thailand, is also a deviation from the expected pattern of gene distribution. It is speculated that Hb beta E in the Tibeto-Burman populations of Assam arose by an independent mutation which contributed to the high frequencies of Hb beta E in the Northeast Indian populations.     

Y-chromosome and mitochondrial DNA studies on the population structure of the Christmas Island community

Christmas Island is a remote Australian territory located close to the main Indonesian island of Java. Y-chromosome and mitochondrial DNA (mtDNA) markers were used to investigate the genetic structure of the population, which comprises communities of mixed ethnic origin. Analysis of 12 Y-chromosome biallelic polymorphisms revealed a high level of gene diversity and haplotype frequencies that were consistent with source populations in southern China and Southeast Asia. mtDNA hypervariable segment I (HVS-I) sequences displayed high levels of haplotype diversity and nucleotide diversity that were comparable to various Asian populations. Genetic distances revealed extremely low mtDNA differentiation among Christmas Islanders and Asian populations. This was supported by the relatively high proportion of sequence types shared among these populations. The most common mtDNA haplogroups were M* and B, followed by D and F, which are prevalent in East/Southeast Asia. Christmas Islanders of European descent were characterized by the Eurasian haplogroup R*, and a limited degree of admixture was observed. In general, analysis of the genetic data indicated population affinities to southern Chinese (in particular from the Yunnan Province) and Southeast Asia (Thailand, Malaysia, and Cambodia), which was consistent with historical records of settlement. The combined use of these different marker systems provides a useful and appropriate model for the study of contemporary populations derived from different ethnic origins.     

BamHI-SacI RFLP and Gm analysis of the immunoglobulin IGHG genes in the Northern Selkups (west Siberia): new haplotypes with deletion, duplication and triplication

Gm immunoglobulin allotypes have been studied in 1157 individuals of seven Northern Selkup populations, which account for 80% of the entire population of this west Siberian tribe. This study confirms that the northern Selkup populations are a Caucasoid-Mongoloid hybrid. Restriction fragment length polymorphism (RFLP) analysis of the IGHG genes using double BamHI-SacI digests, performed on 475 DNA samples, allowed us to describe nine new BamHI-SacI haplotypes (BS47 to BS55), eight of them being characterized by IGHG gene deletion or duplication: G1 (BS49) or G4 (BS55) deletion, G4 duplication (BS51), GP-G2-G4 multigene deletion (BS50), duplication (BS48, BS53 and BS54) or triplication (BS52). A new rare Gm haplotype 15,16*;1,17;23 has been found associated with BS52. The BS51 haplotype characterized by a duplicated G4 gene (additional 7.85 kb G4 band identifying a new G4*C5 allele) was always found associated with the Gm 5*;3;23 haplotype. A high RFLP diversity has been observed for the Northern-Mongoloid haplotype Gm 15,16*;1,17;.. which was found (1) with the BS27 haplotype characterized by a 3-exon hinge G3 gene, (2) with two different GP-G2-G4 multigene duplications, BS53 and BS54 haplotypes, which differ by the size of the duplicated G4 genes, and (3) with the BS55 haplotype characterized by a G4 deletion. In the Northern Selkups, haplotypes with duplicated genes were observed at a higher frequency (24%) than haplotypes with deleted genes (6%).     

Haplotypes of alpha-globin gene regulatory element in two Brazilian native populations

The α‐major regulatory element (α‐MRE), located 40 Kb far upstream of the α‐globin gene cluster on chromosome 16, is involved in the regulation of human α‐globin genes expression. The activity of this element is restricted to a 350‐bp fragment in which several nuclear protein binding sites have been identified. This element is genetically polymorphic and different haplotypes, named A–F, have been determined in seven populations of Europe, Africa, Asia, and Oceania. We describe here the α‐MRE haplotypes found in native Indians from two nonmiscegenated tribes of the north region of Brazil, in Amazonia, the Parakanã and the Xikrin. The A haplotype was predominant in both (70% and 87%, respectively), followed by the B haplotype (30% and 13%, respectively). The haplotype frequency distribution among the Parakanã was similar to that reported for Indonesians and Southeast Asian populations, while the distribution among the Xikrin showed higher similarity to that observed in Indonesians. These results corroborate the existence of genetic affinities between Brazilian Indians and Southeast Asian and Oceanic populations. This was the first investigative work on the α‐MRE polymorphism in South American native populations in general or Brazilian native populations in particular. Am J Phys Anthropol 121:000–000, 2003. © 2003 Wiley‐Liss, Inc.     

Gm and Inv [Km] allotypes among Libyan and Ashkenazi Jews,and Armenians living in Israel

Summary Serum samples from Armenians, and from Libyan and Ashkenazi Jews living in Israel were tested for Gm (1, 2, 3, 5, 6, 10, 11, 13, 14, 17, 21, 24, 26) and for Inv(1) [Km(1)].The Gm data indicate that all three populations have Negroid and Mongoloid admixture. The minimum amount of admixture varies from 3.1% (Armenians) to 5.5% (Libyan Jews). This admixture had not been detected by the study of other polymorphisms, thus once again underlining the sensitivity of the Gm system. The haplotype frequencies among the Libyan Jews are markedly different from those among the Ashkenazi Jews. Surprisingly (coincidentally?) the haplotype frequencies among the Ashkenazi Jews and the Armenians are similar.The Libyan Jews have a significantly higher frequency of Inv ¹ than do the Ashkenazi Jews and among the latter, Inv ¹ is at least twice as frequent among Polish Jews as it is among Russian Jews.     

中国人群遗传结构分析

本文根据红细胞血型基因频率,用Harpending和Jenkins(1973)方法计算了中国22个人群间的遗传距离,同时在国内首次运用主坐标分析及其排序方法展示了中华民族的遗传结构,反映出中国东西人群与南北人群间的基因流。     

Phylogeography of the Southeast Asian stone oaks (Lithocarpus)

Abstract Aim To describe current geographical patterns of genetic diversity and infer the historical population dynamics of the stone oaks (Lithocarpus) in Southeast Asia. Location We sampled three populations in Indochina: (1) Yunnan province, China; (2) Pyin Oo Lwin area, Myanmar and (3) north‐western Vietnam; two in western Borneo: (1) South‐western Sarawak and (2) West Kalimantan, Indonesia; two in central Borneo: (1) north coastal Sarawak and (2) north‐eastern Sarawak, Malaysia; and two in northern Borneo: (1) Central Sabah and (2) Northern Sabah, Malaysia. Methods A phylogenetic reconstruction of chloroplast DNA sequence variation from numerous individuals of multiple species was used to determine geographical distribution of genetic diversity. A resampling scheme was used to determine the significance of these patterns at different hierarchical levels of the phylogeny. Results were compared with a previously published set of nuclear DNA sequence data. Results A high level of chloroplast sequence variation was found, which was divided equally between two major clades separated by four non‐homoplasious changes. One clade was confined to the island of Borneo, while the other was widespread. Strong geographical structure was observed in the chloroplast sequence variation. The Indo‐chinese populations were much more closely related than expected, comparable with the highly endemic and isolated population on the western coast of Borneo. Conversely, individuals from the Kelabit Highlands were found to be more distantly related than expected. The highest levels of genetic endemism were observed in western Borneo. More geographical structure was observed in the Bornean clade than in the Widespread clade, because of limited genetic diversity in the Widespread clade. Relatively weak geographical structure was found in the nuclear sequence variation: only populations in southern China and central Sabah were significantly related. Conclusions The high levels of chloroplast genetic diversity and the persistence of an ancestral haplotype that is a single step away from a haplotype found in Castanopsis indicates the continuous presence of tropical rain forest in Southeast Asia throughout the evolutionary history of the genus (c. 40 Myr). This conclusion is supported by the high frequency of numerous endemic types observed in every population and the relatively few number of ‘missing’ haplotypes. This situation suggests both limited migration and limited extinction. In contrast, the nuclear genetic diversity contained less geographical structure, indicating that our taxonomic sampling among populations was unbiased and that gene flow mediated through pollen is less geographically restricted and contains less geographical structure than purely seed‐mediated (chloroplast) gene flow. The most likely scenario suggested by the evidence involves four major patterns: (1) the widespread presence of an ancestral haplotype; (2) the large degree of separation (four non‐homoplasious base pairs) between the types found in the two major clades; (3) the concentration of derived types from both major clades found in central and northern Borneo; and (4) the molecular endemism found in each location. These patterns suggest four primary things about the population dynamics of Lithocarpus since the late Eocene: (1) populations have either spanned the entire region throughout much of the evolutionary history of the genus or substantial populations have persisted in both Indochina and Borneo with limited migration between them; (2) significant fragmentation has occurred subsequently between the Asian mainland and the Melasian island archipelago, leading to independent genetic diversification in both regions; (3) several locations possessing significant independent histories, have experienced little migration and have never gone completely extinct; and (4) that the central highlands of Borneo have been re‐invaded from the north and the west. The timing of these events is difficult to ascertain but probably predate the Quaternary Period, suggesting that although the recent ice ages might have affected the overall distribution of rain forest in Southeast Asia, it managed to persist in most regions even through the most dramatic drying events.     

Genetic and ecological study of aboriginal populations of northeastern Siberia. I. Gm-haplotypes and their frequency in 10 chukchi populations. Genetic structure of reindeer chukchi

G1m (z, a, x, f) and G3m (g, b0, b1, b3, b5, s, t) allotypes were tested in 1079 Chukchi inhabitants of interior Chukotka and adjacent Kamchatka. Genetic variation at this particular locus is provided by the presence of three haplotypes, namely, za;g, zax;g and za;bO35st, revealed with mean frequencies of 0.748, 0.089 and 0.154, respectively. Traces of Caucasian Gm (f;bO135) haplotype were observed in 9 of 10 populations studied. Judging from its frequency in the whole group (0.009), European admixture in Reindeer Chukchi did not exceed 1.3%. Analysis of covariance and variance matrices containing gene frequencies for 11 polymorphic loci revealed the aspects of genetic structure. Simultaneously, the action of systematic versus nonsystematic pressure was also evaluated and interpreted in the light of historical and ecological events.     

Phylogenetic relationship of the populations within and around Japan using 105 short tandem repeat polymorphic loci

We have analyzed 105 autosomal polymorphic short tandem repeat (STR) loci for nine East and South-eastern Asian populations (two Japanese, five Han Chinese, Thai, and Burmese populations) and a Caucasian population using a multiplex PCR typing system. All the STR loci are genomewide tetranucleotide repeat markers of which the total number of observed alleles and the observed heterozygosity were 756 and 0.743, respectively, for Japanese populations. Phylogenetic analysis for these allele frequency data suggested that the Japanese populations are more closely related with southern Chinese populations than central and/or northern ones. STRUCTURE program analysis revealed the almost clearly divided and accountable population structure at K=2–6, that the two Japanese populations always formed one group separated from the other populations and never belong to different groups at K≥3. Furthermore, our new allele frequency data for 91 loci were analyzed with those for 52 worldwide populations published by previous studies. Phylogenetic and multidimensional scaling (MDS) analyses indicated that Asian populations with large population size (six Han Chinese, three Japanese, two Southeast Asia) formed one distinct cluster and are closer to each other than other ethnic minorities in east and Southeast Asia. This pattern may be the caviar of comparing populations with greatly differing population sizes when STR loci were analyzed.     

Genetic Evidence of an East Asian Origin and Paleolithic Northward Migration of Y-chromosome Haplogroup N

The Y-chromosome haplogroup N-M231 (Hg N) is distributed widely in eastern and central Asia, Siberia, as well as in eastern and northern Europe. Previous studies suggested a counterclockwise prehistoric migration of Hg N from eastern Asia to eastern and northern Europe. However, the root of this Y chromosome lineage and its detailed dispersal pattern across eastern Asia are still unclear. We analyzed haplogroup profiles and phylogeographic patterns of 1,570 Hg N individuals from 20,826 males in 359 populations across Eurasia. We first genotyped 6,371 males from 169 populations in China and Cambodia, and generated data of 360 Hg N individuals, and then combined published data on 1,210 Hg N individuals from Japanese, Southeast Asian, Siberian, European and Central Asian populations. The results showed that the sub-haplogroups of Hg N have a distinct geographical distribution. The highest Y-STR diversity of the ancestral Hg N sub-haplogroups was observed in the southern part of mainland East Asia, and further phylogeographic analyses supports an origin of Hg N in southern China. Combined with previous data, we propose that the early northward dispersal of Hg N started from southern China about 21 thousand years ago (kya), expanding into northern China 12–18 kya, and reaching further north to Siberia about 12–14 kya before a population expansion and westward migration into Central Asia and eastern/northern Europe around 8.0–10.0 kya. This northward migration of Hg N likewise coincides with retreating ice sheets after the Last Glacial Maximum (22–18 kya) in mainland East Asia.