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A western Eurasian male is found in 2000-year-old elite Xiongnu cemetery in Northeast Mongolia

Journal: American Journal of Physical Anthropology | Year: 2010

Abstract:

We analyzed mitochondrial DNA (mtDNA), Y-chromosome single nucleotide polymorphisms (Y-SNP), and autosomal short tandem repeats (STR) of three skeletons found in a 2,000-year-old Xiongnu elite cemetery in Duurlig Nars of Northeast Mongolia. This study is one of the first reports of the detailed genetic analysis of ancient human remains using the three types of genetic markers. The DNA analyses revealed that one subject was an ancient male skeleton with maternal U2e1 and paternal R1a1 haplogroups. This is the first genetic evidence that a male of distinctive Indo-European lineages (R1a1) was present in the Xiongnu of Mongolia. This might indicate an Indo-European migration into Northeast Asia 2,000 years ago. Other specimens are a female with mtDNA haplogroup D4 and a male with Y-SNP haplogroup C3 and mtDNA haplogroup D4. Those haplogroups are common in Northeast Asia. There was no close kinship among them. The genetic evidence of U2e1 and R1a1 may help to clarify the migration patterns of Indo-Europeans and ancient East-West contacts of the Xiongnu Empire. Artifacts in the tombs suggested that the Xiongnu had a system of the social stratification. The West Eurasian male might show the racial tolerance of the Xiongnu Empire and some insight into the Xiongnu society. Am J Phys Anthropol, 2010. copyright 2010 Wiley-Liss, Inc.

Peoples: - | Places: - | Topics: - | DNA Type: Y-DNA

A Worldwide Survey of Human Male Demographic History Based on Y-SNP and Y-STR Data from the HGDP–CEPH Populations

Journal: Molecular Biology and Evolution | Year: 2010

Abstract:

We have investigated human male demographic history using 590 males from 51 populations in the Human Genome Diversity Project – Centre d”Etude du Polymorphisme Humain worldwide panel, typed with 37 Y-chromosomal Single Nucleotide Polymorphisms and 65 Y-chromosomal Short Tandem Repeats and analyzed with the program Bayesian Analysis of Trees With Internal Node Generation. The general patterns we observe show a gradient from the oldest population time to the most recent common ancestors (TMRCAs) and expansion times together with the largest effective population sizes in Africa, to the youngest times and smallest effective population sizes in the Americas. These parameters are significantly negatively correlated with distance from East Africa, and the patterns are consistent with most other studies of human variation and history. In contrast, growth rate showed a weaker correlation in the opposite direction. Y-lineage diversity and TMRCA also decrease with distance from East Africa, supporting a model of expansion with serial founder events starting from this source. A number of individual populations diverge from these general patterns, including previously documented examples such as recent expansions of the Yoruba in Africa, Basques in Europe, and Yakut in Northern Asia. However, some unexpected demographic histories were also found, including low growth rates in the Hazara and Kalash from Pakistan and recent expansion of the Mozabites in North Africa.

Peoples: - | Places: - | Topics: - | DNA Type: Y-DNA

A Y-Chromosome Signature of Hegemony in Gaelic Ireland

Journal: American Journal of Human Genetics | Year: 2006

Abstract:

Seventeen-marker simple tandem repeat genetic analysis of Irish Y chromosomes reveals a previously unnoted modal haplotype that peaks in frequency in the northwestern part of the island. It shows a significant association with surnames purported to have descended from the most important and enduring dynasty of early medieval Ireland, the Ui Neill. This suggests that such phylogenetic predominance is a biological record of past hegemony and supports the veracity of semimythological early genealogies. The fact that about one in five males sampled in northwestern Ireland is likely a patrilineal descendent of a single early medieval ancestor is a powerful illustration of the potential link between prolificacy and power and of how Y-chromosome phylogeography can be influenced by social selection.

Peoples: - | Places: - | Topics: - | DNA Type: Y-DNA

A Y-STR database of Iranian and Azerbaijanian minority populations

Journal: Forensic Science International: Genetics | Year: 2009

Abstract:

Seventeen Y-chromosomal short tandem repeats (Y-STR) DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385a, DYS385b, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 and GATA H4 were studied in five minor linguistic groups from Iran (Arabs, Gilaki, Mazandarani, Bakhtiari and Southern Talysh) and one from Azerbaijan (Northern Talysh) with the goal of constructing of a representative Y-STR database for this region in Southwest Asia. Analysis of Molecular Variance (AMOVA) reveals non-significant or low genetic distances between the Iranian Gilaki, Mazandarani, Bakhtiari and non-Iranian Turkish, Azerbaijanian, Armenian and Kurd populations, but larger genetic distances to both Talysh populations, the Iranian Arabs, Georgian and Kazakh populations.

Peoples: - | Places: - | Topics: - | DNA Type: Y-DNA

Accumulation of mutations over the entire mitochondrial genome of breast cancer cells obtained by tissue microdissection

Journal: Breast cancer research and treatment | Year: 2010

Abstract:

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

Adaptive evolution of the Homo mitochondrial genome

Journal: Molecular Biology | Year: 2011

Abstract:

Adaptive evolution of 12 protein-coding mitochondrial genes in members of genus Homo (Denisova hominin ( H . sp. Altai ), Neanderthals ( H. neanderthalensis ) and modern humans ( H. sapiens )) has been evaluated by assessing the pattern of changes in the physicochemical properties of amino acid replacements during primate evolution. It has been found that molecular adaptation (positive destabilizing selection) in Homo becomes apparent in the form of 12 radical amino acid replacements accompanied with statistically significant ( P < 0.001) changes of physicochemical properties that probably had functional consequences. These replacements occurred at the stage of a common ancestor of Homo (in CO2 and CytB genes) as well as with the appearance of the common ancestor of Neanderthals and modern humans (in CO1 and ND5 genes). Radical amino acid replacements were mainly revealed in the cytochrome c oxidase complex IV and cytochrome bc 1 complex III, thus coinciding with the general trend of increasing nonsynonymous changes in mtDNA genes coding subunits of complexes' III and IV proteins in anthropoid primates.

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

Adaptive selection of an incretin gene in Eurasian populations

Journal: Genome Research | Year: 2011

Abstract:

Diversities in human physiology have been partially shaped by adaptation to natural environments and changing cultures. Recent genomic analyses have revealed single nucleotide polymorphisms (SNPs) that are associated with adaptations in immune responses, obvious changes in human body forms, or adaptations to extreme climates in select human populations. Here, we report that the human GIP locus was differentially selected among human populations based on the analysis of a nonsynonymous SNP (rs2291725). Comparative and functional analyses showed that the human GIP gene encodes a cryptic glucose-dependent insulinotropic polypeptide (GIP) isoform (GIP55S or GIP55G) that encompasses the SNP and is resistant to serum degradation relative to the known mature GIP peptide. Importantly, we found that GIP55G, which is encoded by the derived allele, exhibits a higher bioactivity compared with GIP55S, which is derived from the ancestral allele. Haplotype structure analysis suggests that the derived allele at rs2291725 arose to dominance in East Asians ?8100 yr ago due to positive selection. The combined results suggested that rs2291725 represents a functional mutation and may contribute to the population genetics observation. Given that GIP signaling plays a critical role in homeostasis regulation at both the enteroinsular and enteroadipocyte axes, our study highlights the importance of understanding adaptations in energy-balance regulation in the face of the emerging diabetes and obesity epidemics.

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

Admixture Estimates for Caracas, Venezuela, Based on Autosomal, Y-Chromosome, and mtDNA Markers

Journal: Human Biology | Year: 2010

Abstract:

The present Venezuelan population is the product of admixture of Amerindians, Europeans, and Africans, a process that was not homogeneous throughout the country. Blood groups, short tandem repeats (STRs), mtDNA, and Y-chromosome markers have been used successfully in admixture studies, but few such studies have been conducted in Venezuela. In this study we aim to estimate the admixture components of samples from two different socio -economic levels from Caracas, Venezuela's capital city, compare their differences, and infer sexual asymmetry in the European Amerindian union patterns. Gene frequencies for blood groups ABO and Rh (CDE) and for the STRs VWA, F13A01, and FES/FPS and mtDNA and Y-chromosome haplogroups were studied in a sample of 60 individuals living in Caracas, taken from a private clinic (high socioeconomic level), and 50 individuals, also living in Caracas, drawn from a public maternity clinic (low socioeconomic level). The admixture analysis for the five autosomal markers gives a high European component (0.78) and an almost negligible African sub-Saharan component (0.06) for the high socioeconomic level, whereas for the low socioeconomic level the sub-Saharan, European, and Amerindian components were 0.21, 0.42, and 0.36, respectively. Estimates of admixture based on mtDNA and Y-chromosome markers reveal that the Amerindian contribution to these Caracas samples is almost entirely through females, because the Y-chromosome Amerindian and African sub-Saharan chromosomes found in this study were scarce. Our study reveals that the identification of the grandparents' geographic origin is an important methodological aspect to take into account in genetic studies related to the reconstruction of historical events. The present Venezuelan population is the product of admixture of Amerindians, Europeans, and Africans, a process that was not homogeneous throughout the country. Blood groups, short tandem repeats (STRs), mtDNA, and Y-chromosome markers have been used successfully in admixture studies, but few such studies have been conducted in Venezuela. In this study we aim to estimate the admixture components of samples from two different socio -economic levels from Caracas, Venezuela's capital city, compare their differences, and infer sexual asymmetry in the European Amerindian union patterns. Gene frequencies for blood groups ABO and Rh (CDE) and for the STRs VWA, F13A01, and FES/FPS and mtDNA and Y-chromosome haplogroups were studied in a sample of 60 individuals living in Caracas, taken from a private clinic (high socioeconomic level), and 50 individuals, also living in Caracas, drawn from a public maternity clinic (low socioeconomic level). The admixture analysis for the five autosomal markers gives a high European component (0.78) and an almost negligible African sub-Saharan component (0.06) for the high socioeconomic level, whereas for the low socioeconomic level the sub-Saharan, European, and Amerindian components were 0.21, 0.42, and 0.36, respectively. Estimates of admixture based on mtDNA and Y-chromosome markers reveal that the Amerindian contribution to these Caracas samples is almost entirely through females, because the Y-chromosome Amerindian and African sub-Saharan chromosomes found in this study were scarce. Our study reveals that the identification of the grandparents' geographic origin is an important methodological aspect to take into account in genetic studies related to the reconstruction of historical events.

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

Admixture, migrations, and dispersals in Central Asia: evidence from maternal DNA lineages

Journal: European Journal of Human Genetics | Year: 2004

Abstract:

Mitochondrial DNA (mtDNA) lineages of 232 individuals from 12 Central Asian populations were sequenced for both control region hypervariable segments, and additional informative sites in the coding region were also determined. Most of the mtDNA lineages belong to branches of the haplogroups with an eastern Eurasian (A, B, C, D, F, G, Y, and M haplogroups) or a western Eurasian (HV, JT, UK, I, W, and N haplogroups) origin, with a small fraction of Indian M lineages. This suggests that the extant genetic variation found in Central Asia is the result of admixture of already differentiated populations from eastern and western Eurasia. Nonetheless, two groups of lineages, D4c and G2a, seem to have expanded from Central Asia and might have their Y-chromosome counterpart in lineages belonging to haplotype P(xR1a). The present results suggest that the mtDNA found out of Africa might be the result of a maturation phase, presumably in the Middle East or eastern Africa, that led to haplogroups M and N, and subsequently expanded into Eurasia, yielding a geographically structured group of external branches of these two haplogroups in western and eastern Eurasia, Central Asia being a contact zone between two differentiated groups of peoples.

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

African female heritage in Iberia: a reassessment of mtDNA lineage distribution in present times

Journal: Human Biology | Year: 2005

Abstract:

The Iberian peninsula is a peripheral region of Europe in close proximity to Africa. Its inhabitants have an overall mtDNA genetic landscape typical of European background, although with signs of some African influence, whose features we deemed to disclose by analyzing available mtDNA HVRI distributions and new data. We analyzed 1,045 sequences. The most relevant results are the following: (1) North African sequences (haplogroup U6) present an overall frequency of 2.39%, and sub-Saharan sequences reach 3.83%, values that are, in both cases, much higher than those generally observed in Europe; and (2) there is a substantial geographic heterogeneity in the distribution of these lineages (haplogroup L being the most frequent in the south, whereas haplogroup U6 is generally more common in the north). The analysis of the observed diversity within each haplogroup strongly suggests that both were recently introduced (in historical times). Although for haplogroup U6 the documented event that is demographically compatible is the Islamic period (beginning of the 8th century to the end of the 15th century), for haplogroup L the most probable origin is the modern slave trade (mid 15th century to the end of the 18th century). However, the observed geographic structuring for one of the haplogroups does not fit the expected distribution provided by simplistic historical considerations. In fact, although for haplogroup L the north-south increasing frequency is corroborated by historical data, the opposite trend, observed for haplogroup U6, is more difficult to reconcile with the magnitude and time span of the Islamic political and cultural influence, which lasted longer and was more intense in the south. To clarify this conundrum, we need not only a substantial increase in the amount of mtDNA data (particularly for North Africa) but also new historical data and interpretations.

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

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