//Journal of Human Genetics

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Journal of Human Genetics

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Articles of Interest

Genetic trail for the early migrations of Aisin Gioro, the imperial house of the Qing dynasty

Journal: Journal of Human Genetics | Year: 2017

Abstract:

The House of Aisin Gioro, the imperial clan of Qing dynasty (1644–1911), affected the history of China and the formation of Manchu ethnicity greatly. However, owing to the lack of historical records and archeological evidences, the origin of the House of Aisin Gioro remains ambiguous. To clarify the origin of Aisin Gioro clan, we conducted whole Y-chromosome sequencing on three samples and Y-single-nucleotide polymorphism (Y-SNP) genotyping on other four samples beside those reported in previous work. We confirmed that the paternal lineage of the Aisin Gioro clan belongs to haplogroup C3b1a3a2-F8951, a brother branch of C3*-Star Cluster (currently named as C3b1a3a1-F3796, once linked to Genghis Khan), which is quite different from the predominant lineage C3c-M48 in other Tungusic-speaking populations. We also determined a series of unique Y-SNP markers for the Aisin Gioro clan. Diversity analyses of haplogroup C3b1a3a2-F8951 revealed the early migration of the ancestors of the Aisin Gioro clan from the middle reaches of Amur River to their later settlement in southeastern Manchuria. Hence, our results suggest that the Aisin Gioro clan may be descendants of ancient populations in Transbaikal region and closely related to origin of current Daur populations. Our research indicated that detailed research of stemma and deep sequencing of Y chromosomes are helpful to explore the prehistoric activities of populations lacking historical records and archeological evidences.

Peoples: Aisin Gioro clan | Places: China | Topics: Qing dynasty and The House of Aisin Gioro | DNA Type: Y-DNA

The Y-chromosome haplogroup C3*-F3918, likely attributed to the Mongol Empire, can be traced to a 2500-year-old nomadic group

Journal: Journal of Human Genetics | Year: 2017

Abstract:

The Mongol Empire had a significant role in shaping the landscape of modern populations. Many populations living in Eurasia may have been the product of population mixture between ancient Mongolians and natives following the expansion of Mongol Empire. Geneticists have found that most of these populations carried the Y-haplogroup C3* (C-M217). To trace the history of haplogroup (Hg) C3* and to further understand the origin and development of Mongolians, ancient human remains from the Jinggouzi, Chenwugou and Gangga archaeological sites, which belonged to the Donghu, Xianbei and Shiwei, respectively, were analysed. Our results show that nine of the eleven males of the Gangga site, two of the eight males of Chengwugou site and all of the twelve males of Jinggouzi site were found to have mutations at M130 (Hg C), M217 (Hg C3), L1373 (C2b, ISOGG2015), with the absence of mutations at M93 (Hg C3a), P39 (Hg C3b), M48 (Hg C3c), M407 (Hg C3d) and P62 (Hg C3f). These samples were attributed to the Y-chromosome Hg C3* (Hg C2b, ISOGG2015), and most of them were further typed as Hg C2b1a based on the mutation at F3918. Finally, we inferred that the Y-chromosome Hg C3*-F3918 can trace its origins to the Donghu ancient nomadic group.

Peoples: Donghu, Shiwei, and Xianbei | Places: Chenwugou, Gangga, and Jinggouzi | Topics: Mongol Empire | DNA Type: Ancient DNA and Y-DNA

Mitogenomic diversity and differentiation of the Buryats

Journal: Journal of Human Genetics | Year: 2017

Abstract:

In this paper we present a results of first comprehensive study of the complete mitogenomes in the Buryats with regard to their belonging to the main regional (eastern and western Buryats); tribal (Khori, Ekhirid, Bulagad, and Khongodor), and ethno-territorial (Aginsk, Alar, Balagansk, Barguzin, Ida, Khorinsk, Kuda, Selenga, Verkholensk, Olkhon, Tunka, and Shenehen Buryats) groups. The analysis of molecular variation performed using regional, tribal, and ethno-territorial divisions of the Buryats showed lack of genetic differentiation at all levels. Nonetheless, the complete mitogenome analysis revealed a very high level of genetic diversity in the Buryats which is the highest among Siberian populations and comparable to that in populations of eastern and western Asia. The AMOVA and MDS analyses results imply to a strong genetic similarity between the Buryats and eastern Asian populations of Chinese and Japanese, suggesting their origin on the basis of common maternal ancestry components. Several new Buryat-specific branches of haplogroup G (G2a2a, G2a1i, G2a5a) display signals of dispersals dating to 2.6–6.6 kya with a possible origin in eastern Asia, thus testifying Bronze Age and Neolithic arrival of ancestral eastern Asian component to the South Siberia region.

Peoples: Aginsk, Alar, Balagansk, Barguzin, Bulagad, Buryats, Ekhirid, Ida, Khongodor, Khori, Khorinsk, Kuda, Olkhon, Selenga, Tunka, and Verkholensk | Places: South Siberia region | Topics: Bronze Age and Neolithic | DNA Type: mtDNA

Mitochondrial DNA variations in Austronesian-speaking populations living in the New Georgia Islands, the Western Province of the Solomon Islands

Journal: Journal of Human Genetics | Year: 2017

Abstract:

Modern Austronesian (AN)-speaking Melanesians are considered to be derived from the admixture of indigenous non-Austronesian (NAN)-speaking people and AN-speaking people from Southeast Asia. In this study, we analyzed mitochondrial DNA (mtDNA) variations in the D-loop region for two AN-speaking Melanesian populations (Munda and Kusaghe) and an AN-speaking Micronesian population (Rawaki) in the New Georgia Islands, the Western Province of the Solomon Islands to examine their genetic similarities to AN-speaking Polynesians in Tonga and NAN-speaking Melanesians, Gidra, in Papua New Guinea. The ‘Polynesian motif’, which is well-characterized mtDNA marker for Polynesians, was frequently observed in Munda and Kusaghe. Of particular interest, haplogroup E1a2 + 16261, which has been rarely observed in the Solomon Islands, accounted for 12.8% in Kusaghe. It has been reported that the haplogroup E1a2 arose in Island Southeast Asia (ISEA) 9400 ± 2850 years ago. Phylogenetic and principle component analyses for 24 Oceanian populations revealed that Munda and Kusaghe populations were genetically close to Tongan population, but not to Gidra. Rawaki population showed no apparent genetic similarities to populations of Tonga and Gidra. Our results suggest that considerable gene flow from AN-speaking populations originated from Southeast Asia to indigenous Melanesians occurred in the New Georgia Islands.

Peoples: Austronesian speakers and Melanesians | Places: New Georgia Islands and Solomon Islands | Topics: | DNA Type: mtDNA

Phylogeny of Y-chromosome haplogroup C3b-F1756, an important paternal lineage in Altaic-speaking populations

Journal: Journal of Human Genetics | Year: 2017

Abstract:

In previous studies, a specific paternal lineage with a null value for the Y-chromosome short tandem repeat (Y-STR) marker DYS448 was identified as common among Mongolic- and Turkic-speaking populations. This paternal lineage (temporarily named C3*-DYS448del) was determined to be M217+, M93–, P39–, M48–, M407–, and P53.1–, and its origin and phylogeny remain ambiguous. Here, we analyzed Y-chromosome sequences of 10 male that are related this paternal lineage and redefined it as C3b1a1a1a-F1756 (C3b-F1756). We generated a highly revised phylogenetic tree of haplogroup C3b-F1756, including 21 sub-clades and 360 non-private Y-chromosome polymorphisms. Additionally, we performed a comprehensive analysis of the C3*-DYS448del lineage in eastern Eurasia, including 18 270 samples from 297 populations. Whole Y-chromosome sequences, Y-STR haplotypes, and frequency data were used to generate a distribution map, a network, and age estimations for lineage C3*-DYS448del and its sub-lineages. Considering the historical records of the studied populations, we propose that two major sub-branches of C3b-F1756 may correspond to early expansions of ancestors of modern Mongolic- and Turkic-speaking populations. The large number of newly defined Y-chromosome polymorphisms and the revised phylogenetic tree for C3b-F1756 will assist in investigation of the early history of Altaic-speaking populations in the future.

Peoples: Altaic-speaking populations and East Asians | Places: Eastern Eurasia | Topics: C3b-F1756 | DNA Type: Y-DNA

Y chromosome haplotype diversity in Mongolic-speaking populations and gene conversion at the duplicated STR DYS385a, b in haplogroup C3-M407

Journal: Journal of Human Genetics | Year: 2016

Abstract:

Y chromosome microsatellite (Y-STR) diversity has been studied in different Mongolic-speaking populations from South Siberia, Mongolia, North-East China and East Europe. The results obtained indicate that the Mongolic-speaking populations clustered into two groups, with one group including populations from eastern part of South Siberia and Central Asia (the Buryats, Barghuts and Khamnigans) and the other group including populations from western part of Central Asia and East Europe (the Mongols and Kalmyks). High frequency of haplogroup C3-M407 (>50%) is present in the Buryats, Barghuts and Khamnigans, whereas in the Mongols and Kalmyks its frequency is much lower. In addition, two allelic combinations in DYS385a,b loci of C3-M407 haplotypes have been observed: the combination 11,18 (as well as 11,17 and 11,19) is frequent in different Mongolic-speaking populations, but the 11,11 branch is present mainly in the Kalmyks and Mongols. Results of locus-specific sequencing suggest that the action of gene conversion is a more likely explanation for origin of homoallelic 11,11 combination. Moreover, analysis of median networks of Y-STR haplotypes demonstrates that at least two gene conversion events can be revealed—one of them has probably occurred among the Mongols, and the other event occurred in the Barghuts. These two events give an average gene conversion rate range of 0.24–7.1 × 10–3 per generation.

Peoples: Barghuts, Buryats, Kalmyks, Khamnigans, and Mongols | Places: Central Asia, East Europe, Mongolia, North-East China, and South Siberia | Topics: C3-M407 and Gene conversion events | DNA Type: Y-DNA

New native South American Y chromosome lineages

Journal: Journal of Human Genetics | Year: 2016

Abstract:

Many single-nucleotide polymorphisms (SNPs) in the non-recombining region of the human Y chromosome have been described in the last decade. High-coverage sequencing has helped to characterize new SNPs, which has in turn increased the level of detail in paternal phylogenies. However, these paternal lineages still provide insufficient information on population history and demography, especially for Native Americans. The present study aimed to identify informative paternal sublineages derived from the main founder lineage of the Americas—haplogroup Q-L54—in a sample of 1841 native South Americans. For this purpose, we used a Y-chromosomal genotyping multiplex platform and conventional genotyping methods to validate 34 new SNPs that were identified in the present study by sequencing, together with many Y-SNPs previously described in the literature. We updated the haplogroup Q phylogeny and identified two new Q-M3 and three new Q-L54*(xM3) sublineages defined by five informative SNPs, designated SA04, SA05, SA02, SA03 and SA29. Within the Q-M3, sublineage Q-SA04 was mostly found in individuals from ethnic groups belonging to the Tukanoan linguistic family in the northwest Amazon, whereas sublineage Q-SA05 was found in Peruvian and Bolivian Amazon ethnic groups. Within Q-L54*, the derived sublineages Q-SA03 and Q-SA02 were exclusively found among Coyaima individuals (Cariban linguistic family) from Colombia, while Q-SA29 was found only in Maxacali individuals (Jean linguistic family) from southeast Brazil. Furthermore, we validated the usefulness of several published SNPs among indigenous South Americans. This new Y chromosome haplogroup Q phylogeny offers an informative paternal genealogy to investigate the pre-Columbian history of South America.

Peoples: South Americans | Places: Amazon and Amazon basin | Topics: Cariban linguistic family and Jean linguistic family | DNA Type:

Genetic diversity of two Neolithic populations provides evidence of farming expansions in North China

Journal: Journal of Human Genetics | Year: 2016

Abstract:

The West Liao River Valley and the Yellow River Valley are recognized Neolithic farming centers in North China. The population dynamics between these two centers have significantly contributed to the present-day genetic patterns and the agricultural advances of North China. To understand the Neolithic farming expansions between the West Liao River Valley and the Yellow River Valley, we analyzed mitochondrial DNA (mtDNA) and the Y chromosome of 48 individuals from two archeological sites, Jiangjialiang (>3000 BC) and Sanguan (~1500 BC). These two sites are situated between the two farming centers and experienced a subsistence shift from hunting to farming. We did not find a significant difference in the mtDNA, but their genetic variations in the Y chromosome were different. Individuals from the Jiangjialiang belonged to two Y haplogroups, N1 (not N1a or N1c) and N1c. The individuals from the Sanguan are Y haplogroup O3. Two stages of migration are supported. Populations from the West Liao River Valley spread south at about 3000 BC, and a second northward expansion from the Yellow River Valley occurred later (3000–1500 BC).

Peoples: Chinese | Places: China, West Liao River Valley, and Yellow River Valley | Topics: Jiangjialiang, Neolithic, and Sanguan | DNA Type: mtDNA and Y-DNA

Origins of the Moken Sea Gypsies inferred from mitochondrial hypervariable region and whole genome sequences

Journal: Journal of Human Genetics | Year: 2009

Abstract:

Peoples: | Places: | Topics: | DNA Type: mtDNA

Analysis of complete mitochondrial genomes of patients with schizophrenia and bipolar disorder

Journal: Journal of Human Genetics | Year: 2011

Abstract:

The present study aims at investigating the association between common and rare variants of mitochondrial DNA (mtDNA), and increased risk of schizophrenia (SZ) and bipolar disorder (BPD) in a cohort of patients originating from the same Italian population. The distribution of the major European mtDNA haplogroups was determined in 89 patients and their frequencies did not significantly differ from those observed in the Italian population. Moreover, 27 patients with high probability of having inherited the disease from the maternal side were selected for whole mitochondrial genome sequencing to investigate the possible presence of causative point mutations. Overall, 213 known variants and 2 novel changes were identified, but none of them was predicted to have functional effects. Hence, none of the sequence changes we found in our sample could explain the maternal component of SZ and BPD predisposition.

Peoples: | Places: | Topics: | DNA Type: mtDNA

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