Human Y Chromosome Research Articles

Development and validation of a custom panel including 183 Y‐SNPs for Chinese Y‐chromosomal haplogroups dissection using a MALDI‐TOF MS system

Y-chromosome SNP haplogroups exhibit geographic structuring in many populations around the world. Therefore, Y-chromosome haplogroups have been widely used to infer paternal biogeographical ancestry and high-resolution paternal lineage classification. In the present study, we designed a customized panel containing 183 Y-SNPs based on previous studies and evaluated the genotyping performance and repeatability, concordance, sensitivity, and ability of analysing case-type samples using a MALDI-TOF MS platform. The average call rate for duplicate typing of any one SNP in the panel was 97.0%. In the concordance and accuracy study, the results of haplogroup designation obtained from MALDI-TOF MS platform were fully consistent with those obtained from the next-generation sequencing (NGS) platform. The optimal amount of template DNA in the PCR seemed to be 10ng. However, if less DNA (≥156.25pg) was available, it was still possible to obtain meaningful haplogroup information. For the application part, this panel could be applied for the detection of blood, semen, and buccal swabs samples. Particularly, blood stain on FTA card samples could be dissected by direct PCR amplification on the MALDI-TOF MS platform. Besides, 371 unrelated male individuals from four Chinese ethnic groups (Han, Hui, Mongolian, and Kazak) were detected using this panel. Total 78 terminal haplogroups were found and the haplogroup diversity was 0.933576. The results demonstrate that this panel could be an accurate, fast, and cost-effective method for database construction where the amount of sample material is less of a concern and when the cost of the assay is taken into consideration.

Paleogenetic Study of Ancient Mummies at the Kurchatov Institute

An interdisciplinary study of ten ancient Egyptian mummies from the collection of the Pushkin State Museum of Fine Arts, which date back to the 1st millennium BCE–beginning of the Common Era, was carried out at the NRC Kurchatov Institute. At the initial stage, they were subjected to computerized tomo-graphy (CT), which became the basis for further research: anthropological, medical, and forensic analysis. For paleogenetic and isotopic analysis, the best-preserved bone tissue samples of mummies based on CT data were taken. The article presents the results of experimental studies that determined the mitochondrial and Y-chromosomal haplogroups of some of the studied mummies, the sex previously established by anthropologists was confirmed, the DNA of certain pathogens were found, and isotope analysis was carried out. The data obtained by natural scientific methods supplement important historical information on the genetic diversity of the population of Ancient Egypt and migration processes in this region.

Y Chromosome as a Tool for DNA Identification and Determination of Ethnoterritorial Origin

Genetic diversity of a large number of populations is analyzed using various Y-chromosome markers. Genotyping of a wide range of novel highly informative SNP and YSTR markers shows that most of the Y-chromosome haplogroups can be divided not only into ethnically specific lineages but also into narrower sublineages and clusters of haplotypes. A significant extent of population and interethnic genetic differentiation is revealed. Most ethnic gene pools are characterized by the predominance or even complete dominance of specific SNPs across all major haplogroups, that is highly promising for the application in ethnic identification of biological samples of males.

Монгольский генетический компонент в генофонде коренных народов Сибири, Средней Азии и Восточной Европы

Выявлен вклад монгольского по происхождению компонента в генофонд различных этносов Сибири, Средней Азии и Волго-Уральского региона, который присутствует у монголоязычных и тюркоязычных этносов. Анализ состава различных сублиний гаплогрупп Y-хромосомы показывает, что привнесение этого генетического компонента было связано с различными по времени миграционными событиями и разными по происхождению родоплеменными группами. The contribution of the Mongolian component to the gene pool of various ethnic groups of Siberia, Central Asia and the Volga-Ural region, which is present in the Mongol-speaking and Turkic-speaking ethnic groups, is revealed. An analysis of the composition of the various sublines of the Y-chromosome haplogroups shows that the introduction of this genetic component was associated with time-varying migration events and tribal groups of different origin.

Identification and characterization of novel rapidly mutating Y-chromosomal short tandem repeat markers.

Short tandem repeat polymorphisms on the male-specific part of the human Y-chromosome (Y-STRs) are valuable tools in many areas of human genetics. Although their paternal inheritance and moderate mutation rate (~10-3 mutations per marker per meiosis) allow detecting paternal relationships, they typically fail to separate male relatives. Previously, we identified 13 Y-STR markers with untypically high mutation rates (>10-2 ), termed rapidly mutating (RM) Y-STRs, and showed that they improved male relative differentiation over standard Y-STRs. By applying a newly developed in silico search approach to the Y-chromosome reference sequence, we identified 27 novel RM Y-STR candidates. Genotyping them in 1,616 DNA-confirmed father-son pairs for mutation rate estimation empirically highlighted 12 novel RM Y-STRs. Their capacity to differentiate males related by 1, 2, and 3 meioses was 27%, 47%, and 61%, respectively, while for all 25 currently known RM Y-STRs, it was 44%, 69%, and 83%. Of the 647 Y-STR mutations observed in total, almost all were single repeat changes, repeat gains, and losses were well balanced; allele length and fathers' age were positively correlated with mutation rate. We expect these new RM Y-STRs, together with the previously known ones, to significantly improving male relative differentiation in future human genetic applications.

The Y-chromosomal haplotype and haplogroup distribution of modern Switzerland still reflects the alpine divide as a geographical barrier for human migration

A sample of 606 Swiss individuals has been characterized for 27 Y-STR and 34 Y-SNPs, defining major European haplogroups. For the first time, a subsample from the southernmost part of Switzerland, the Italian speaking canton Ticino, has been included. The data reveals significant intra-national differences in the distribution of haplogroups R1b-U106, R1b-U152, I1 and J2a north and south of the alpine divide, with R1b-U152 being the most frequent haplogroup among all Swiss subpopulations, reaching 26 % in average and 53 % in the Ticino sample. In addition, a high percentage of haplogroup E1b1b-M35 in Eastern Switzerland corresponds well with data reported from Western Austria. In general, we detected a low level of differentiation between the subgroups north of the alpine divide. The dataset also revealed a variety of microvariants. Some of them were previously known to be associated with particular haplogroups. However, we discovered one microvariant in DYS533 that seems to be closely associated with haplogroup I2-P215 (xM223). This association had not yet been reported to date. The concordance study with two STR-kits suggests that the DYS533 microvariant is due to an InDel in the flanking regions of the marker. One individual carried a large deletion, frequently detected in people of East Asian ancestry, encompassing the amelogenin locus. To our knowledge, this is the first time that such a deletion has been observed within European haplogroup R1b-U152. This is the first comprehensive Y chromosomal dataset for Switzerland, demonstrating significant population substructure due to an intra-national geographical barrier.

A 16-plex Y-SNP typing system based on allele-specific PCR for the genotyping of Chinese Y-chromosomal haplogroups.

Y-chromosomal SNP (Y-SNP), with its stable inheritance and low mutation, can provide Supplementary information in forensic investigation. While commonly used Y-chromosomal STR haplotypes show their limitations, typing of Y-SNP would become a powerful complement. In this study, a 16-plex Y-SNP typing system based on allele-specific PCR (AS-PCR) was developed to discriminate four dominant Y-chromosomal haplogroups (C-M130, D-CTS3946, N-M231, and O-M175) and 12 predominant sub-haplogroups of O-M175 (O1a-M119, O1a1a1a-CTS3265, O1b-M268, O1b1a2-Page59, O2-M122, O2a1-L127.1, O2a1b-F240, O2a1b1a1-CTS5820, O2a2-P201, O2a2b1a1-M177, O2a2b1a1a1a-Y17728, O2a2b1a2-F114). A series of experimental validation studies including sensitivity, species specificity, male-female mixture and inhibition were performed. The discrimination of the typing system was preliminarily proved with a haplogroup diversity of 0.9239. Altogether, the Y-SNP typing system based on AS-PCR should be capable of distinguishing China's dominant Y-chromosomal haplogroups in a rapid and reliable manner, thus can be employed as a useful complement in forensic casework.

Quantitative analysis of Y-Chromosome gene expression across 36 human tissues.

Little is known about how human Y-Chromosome gene expression directly contributes to differences between XX (female) and XY (male) individuals in nonreproductive tissues. Here, we analyzed quantitative profiles of Y-Chromosome gene expression across 36 human tissues from hundreds of individuals. Although it is often said that Y-Chromosome genes are lowly expressed outside the testis, we report many instances of elevated Y-Chromosome gene expression in a nonreproductive tissue. A notable example is EIF1AY, which encodes eukaryotic translation initiation factor 1A Y-linked, together with its X-linked homolog EIF1AX. Evolutionary loss of a Y-linked microRNA target site enabled up-regulation of EIF1AY, but not of EIF1AX, in the heart. Consequently, this essential translation initiation factor is nearly twice as abundant in male as in female heart tissue at the protein level. Divergence between the X and Y Chromosomes in regulatory sequence can therefore lead to tissue-specific Y-Chromosome-driven sex biases in expression of critical, dosage-sensitive regulatory genes.

Phylogenetic analysis of the Y-chromosome haplogroup C2b-F1067, a dominant paternal lineage in Eastern Eurasia.

Human Y-chromosome haplogroup C2b-F1067 is one of the dominant paternal lineages of populations in Eastern Eurasia. In order to explore the origin, diversification, and expansion of this haplogroup, we generated 206 new Y-chromosome sequences from C2b-F1067 males and coanalyzed 220 Y-chromosome sequences of this haplogroup. BEAST software was used to reconstruct a revised phylogenetic tree of haplogroup C2b-F1067 with age estimates. The revised phylogeny of C2b-F1067 included 155 sublineages, 1986 non-private variants, and >6000 private variants. The age estimation suggested that the initial splitting of C2b-F1067 happened at about 32.8 thousand years ago (kya) and the major sublineages of this haplgroup experienced continuous expansion in the most recent 10,000 years. We identified numerous sublineages that were nearly specific for Korean, Mongolian, Chinese, and other ethnic minorities in China. In particular, we evaluated the candidate-specific lineage for the Dayan Khan family and the Confucius family, the descendants of the ruling family of the Chinese Shang dynasty. These findings suggest that ancient populations with varied C2b-F1067 sublineages played an important role during the formation of most modern populations in Eastern Eurasia, and thus eventually became the founding paternal lineages of these populations.

The Y-chromosome F haplogroup contributes to the development of Barrett’s esophagus-associated esophageal adenocarcinoma in a white male population

SummaryBarrett’s esophagus (BE) is a metaplastic condition of the distal esophagus, resulting from longstanding gastroesophageal reflux disease (GERD). BE predisposes for the highly malignant esophageal adenocarcinoma (EAC). Both BE and EAC have the highest frequencies in white males. Only a subset of patients with GERD develop BE, while <0.5% of BE will progress to EAC. Therefore, it is most likely that the development of BE and EAC is associated with underlying genetic factors. We hypothesized that in white males, Y-chromosomal haplogroups are associated with BE and EAC. To investigate this we conducted a multicenter study studying the frequencies of the Y-chromosomal haplogroups in GERD, BE, and EAC patients. We used genomic analysis by polymerase chain reaction and restriction fragment length polymorphism to determine the frequency of six Y-chromosomal haplogroups (DE, F(xJ,xK), K(xP), J, P(xR1a), and R1a) between GERD, BE, and EAC in a cohort of 1,365 white males, including 612 GERD, 753 BE patients, while 178 of the BE patients also had BE-associated EAC. Univariate logistic regression analysis was used to compare the outcomes. In this study, we found the R1a (6% vs. 9%, P = 0.04) and K (3% vs. 6%, P = 0.035) to be significantly underrepresented in BE patients as compared to GERD patients with an odds ratio (OR) of 0.63 (95% CI 0.42–0.95, P = 0.03) and of 0.56 (95% CI 0.33–0.96, P = 0.03), respectively, while the K haplogroup was protective against EAC (OR 0.30; 95% CI 0.07–0.86, P = 0.05). A significant overrepresentation of the F haplogroup was found in EAC compared to BE and GERD patients (34% vs. 27% and 23%, respectively). The F haplogroup was found to be a risk factor for EAC with an OR of 1.5 (95% CI 1.03–2.19, P = 0.03). We identified the R1a and K haplogroups as protective factors against development of BE. These haplogroups have low frequencies in white male populations. Of importance is that we could link the presence of the predominantly occurring F haplogroup in white males to EAC. It is possible that this F haplogroup is associated to genetic variants that predispose for the EAC development. In future, the haplogroups could be applied to improve stratification of BE and GERD patients with increased risk to develop BE and/or EAC.

Paternal genetic history of the Yong population in northern Thailand revealed by Y-chromosomal haplotypes and haplogroups

We have determined the distribution of Y-chromosomal haplotypes and haplogroups in the Yong population, one of the largest and well-known ethnic groups that began migrating southward from China to Thailand centuries ago. Their unique mass migration pattern provided great opportunities for researchers to study the genetic links of the transboundary migration movements among the peoples of China, Myanmar and Thailand. We analysed relevant male-specific markers, such as Y-STRs and Y-SNPs, and the distribution of 23 Y-STRs of 111 Yong individuals and 116 nearby ethnic groups including the Shan, Northern Thai, Lawa, Lua, Skaw, Pwo and Padong groups. We found that the general haplogroup distribution values were similar among different populations; however, the haplogroups O1b-M268 and O2-M112 constituted the vast majority of these values. In contrast with previous maternal lineage studies, the paternal lineage of the Yong did not relate to the Xishuangbanna Dai people, who represent their historically documented ancestors. However, they did display a close genetic affinity to other prehistoric Tai-Kadai speaking groups in China such as the Zhuang and Bouyei. Low degrees of genetic admixture within the populations who belonged to the Austroasiatic and Sino-Tibetan linguistic families were observed in the gene pool of the Yong populations. Resettlement in northern Thailand in the early part of the nineteenth century AD, by way of mass migration trend, was able to preserve the Yong's ancestral genetic background in terms of the way they had previously lived in China and Myanmar. Our study has revealed similar genetic structures among ethnic populations in northern Thailand and southern China, and has identified and emphasized an ancient Tai-Kadai patrilineal ancestry line in the Yong ethnic group.

Analysis of the Kazakh tribe Baiuly based on the distribution of the Y-chromosome haplogroups

Analysis of the Kazakh tribe Baiuly based on the distribution of the Y-chromosome haplogroups

Погребальный памятник афанасьевской культуры Бертек-33 на плато Укок (Горный Алтай): результаты палеогенетического исследования

В статье представлены результаты палеогенетического исследования останков семи взрослых индивидов из погребального памятника афанасьевской культуры Бертек-33 (плато Укок, Республика Алтай, Россия) и их интерпретация с учетом археологического и палеоантропологического контекста. Проведен анализ четырех систем генетических маркеров: митохондриальной ДНК, полиморфного фрагмента гена амелогенина, аутосомных STR-локусов и STR-локусов Y-хромосомы. Полученные результаты свидетельствуют о доминировании в исследуемой группе населения западно-евразийских гаплогрупп митохондриальной ДНК (T, J, U5a, K, H) и однородности мужского генофонда, представленного вариантами гаплогруппы R1b Y-хромосомы. Данные по митохондриальной ДНК, Y-хромосоме, отдельным аутосомным маркерам указывают на западно-евразийский вектор генетических связей этой группы. Исследованная серия укладывается в рамки внутрипопуляционного разнообразия генофонда митохондриальной ДНК и Y-хромосомы афанасьевского населения Южной Сибири. В статье рассмотрены возможные родственные связи между индивидами, захороненными в курганах памятника Бертек-33. Обсуждаются вопросы корректного сопоставления и интерпретации данных о генетических характеристиках погребенных и особенностях материальной культуры исследуемого населения.

Y-chromosome haplogroups from Hun, Avar and conquering Hungarian period nomadic people of the Carpathian Basin

Hun, Avar and conquering Hungarian nomadic groups arrived to the Carpathian Basin from the Eurasian Steppes and significantly influenced its political and ethnical landscape, however their origin remains largely unknown. In order to shed light on the genetic affinity of above groups we have determined Y chromosomal haplogroups and autosomal loci, suitable to predict biogeographic ancestry, from 49 individuals, supposed to represent the power/military elit. Haplogroups from the Hun-age are consistent with Xiongnu ancestry of European Huns. Most of the Avar-age individuals carry east Eurasian Y haplogroups typical for modern north-eastern Siberian and Buryat populations and their autosomal loci indicate mostly un-admixed Asian characteristics. In contrast the conquering Hungarians seem to be a recently assembled population incorporating un-admixed European, Asian as well as admixed components. Their heterogeneous paternal and maternal lineages indicate similar supposed phylogeographic origin of males and females, derived from Central-Inner Asian and European Pontic Steppe sources.

Comparative study between Helicobacter pylori and host human genetics in the Dominican Republic

BackgroundHelicobacter pylori, a bacterium that infects the human stomach, has high genetic diversity. Because its evolution is parallel to human, H. pylori is used as a tool to trace human migration. However, there are few studies about the relationship between phylogeography of H. pylori and its host human.MethodsWe examined both H. pylori DNA and the host mitochondrial DNA and Y-chromosome DNA obtained from a total 119 patients in the Dominican Republic, where human demography consists of various ancestries. DNA extracted from cultured H. pylori were analyzed by multi locus sequence typing. Mitochondrial DNA and Y-chromosome DNA were evaluated by haplogroup analyses.ResultsH. pylori strains were divided into 2 populations; 68 strains with African group (hpAfrica1) and 51 strains with European group (hpEurope). In Y-chromosomal haplogroup, European origin was dominant, whereas African origin was dominant both in H. pylori and in mtDNA haplogroup. These results supported the hypothesis that mother-to-child infection is predominant in H. pylori infection. The Amerindian type of mtDNA haplogroup was observed in 11.8% of the patients; however, Amerindian type (hspAmerind) of H. pylori was not observed. Although subpopulation type of most hpAfrica1 strains in Central America and South America were hybrid (hspWAfrica/hpEurope), most Dominican Republic hpAfrica1 strains were similar to those of African continent.ConclusionsGenetic features of H. pylori, mtDNA, and Y haplogroups reflect the history of colonial migration and slave trade in the Dominican Republic. Discrepancy between H. pylori and the host human genotypes support the hypothesis that adaptability of hspAmerind H. pylori strains are weaker than hpEurope strains. H. pylori strains in the Dominican Republic seem to contain larger proportion of African ancestry compared to other American continent strains.

Q1a3a native-American Y-haplogroup detection in DNA quantification step: A quick diagnosis for Y-chromosome database selection

We present the optimization of a previously developed DNA quantification approach that now makes possible the simultaneous detection of Q1a3a Native-American Y-chromosome haplogroup by means of real time-PCR followed by high resolution melting (HRM) analysis. Genotyping is possible by differences in melting temperature (Tm) of one specific Y-chromosome fragment (58bp long, included in the reaction cocktail) which contains the M3-Q3 C/T polymorphism. The specific variant M3-Q3/T (Native-American lineage) has a Tm ≈ 76 °C, whereas M3-Q3/C (non-Native-American) has Tm ≈ 77 °C. Fifty reference male DNA samples (blood and muscle from autopsy) were analyzed. DNA concentration ranged from 0,01 to 28 ng/μL. Thirteen showed Native-American signature (TmT = 76,02 ± 0,04) while thirty-seven as non-Native-American (TmC = 77,13 ± 0,06). These results were compared to those predicted from Y-STRs by White Athey´s on-line software. Casework samples containing male DNA were quantified and successfully haplogrouped. The STRs profiles, subsequently obtained, correlated well with quantitation results. This system represents an approach that provides valuable information at early stages of genotyping process, and useful for choosing the most suitable Y-chromosome database for statistical evaluations.

Inferring the genetic structure of Northwestern Argentina by uniparental SNP typing

The genetic background of South American populations is the result of four major genetic admixture events. To investigate the maternal and paternal lineages, we analyzed mitochondrial DNA (mt-DNA): A2, B2, C, D1; and Y-chromosome (Y-DNA) haplogroups (hg): R1b1b2, Q1a3a, G2a, I, J2, E1b1b, based on SNP typing by real time PCR and high-resolution melting analysis. Individuals from Northwestern Argentina (NWA) (n = 187) were studied and compared with Buenos Aires Metropolitan Area’s inhabitants (BUE) (n = 107) and recently arrived immigrants from Bolivia (BOL) (n = 100), Paraguay (PAR) (n = 54) and Peru (PER) (n = 52). Native American (NA) mt-DNA hgs were the most frequent in all regions (89,8%–98,1%), except for BUE (43%), being B2 the most prevalent (42,6%–58% versus 8,4% in BUE). Regarding Y-DNA hg, a greater contribution of the non-Native American (non-NA) lineage was found in all populations (61,5%–99%), except for BOL (32,7%). Moreover, the most frequent hg observed were R1b1b2 (50% PAR, 46,6% BUE, 30,2% NWA) and Q1a3a (67,3% BOL, 38,5% PER). A high percentage of NA mt-DNA/non-NA Y-DNA was represented (53,8%–63,5%), excepting BUE (41,7%) and BOL (26,9%). Data obtained is consistent with historical information underscoring the complex genetic ancestry of melting pot countries. The results offer additional tools for forensic investigation; molecular epidemiological and anthropological studies.

The Dutch Y-chromosomal landscape

Previous studies indicated existing, albeit limited, genetic-geographic population substructure in the Dutch population based on genome-wide data and a lack of this for mitochondrial SNP based data. Despite the aforementioned studies, Y-chromosomal SNP data from the Netherlands remain scarce and do not cover the territory of the Netherlands well enough to allow a reliable investigation of genetic-geographic population substructure. Here we provide the first substantial dataset of detailed spatial Y-chromosomal haplogroup information in 2085 males collected across the Netherlands and supplemented with previously published data from northern Belgium. We found Y-chromosomal evidence for genetic–geographic population substructure, and several Y-haplogroups demonstrating significant clinal frequency distributions in different directions. By means of prediction surface maps we could visualize (complex) distribution patterns of individual Y-haplogroups in detail. These results highlight the value of a micro-geographic approach and are of great use for forensic and epidemiological investigations and our understanding of the Dutch population history. Moreover, the previously noted absence of genetic-geographic population substructure in the Netherlands based on mitochondrial DNA in contrast to our Y-chromosome results, hints at different population histories for women and men in the Netherlands.

Genetic polymorphism and population structure of Torghut Mongols and comparison with a Mongolian population 3000 kilometers away

Mongolians played a pivotal role in shaping the culture and genetic architecture of modern Eurasia through the rapid expansion of the Mongol Empire in the 13th century. While the historical aspects of the Mongolian Empire are well documented, research on the genetic variations among Mongolian populations is still insufficient. In this study, we examined the genetic diversity of 70 Torghut Mongols residing in the Ili region of China compared with 88 Jalaid Mongols residing 3000 km away. Over 200 forensically relevant genetic markers, including autosomal short tandem repeats (A-STRs), X chromosomal STRs (X-STRs), Y chromosomal STRs (Y-STRs), identity-informative single nucleotide polymorphisms (iiSNPs), ancestry-informative SNPs (aiSNPs), and phenotype-informative SNPs (piSNPs), were genotyped to uncover the genetic polymorphism of the Torghut Mongols. The STR genotyping results showed that 80 alleles (39 A-STRs, 25 Y-STRs, and 16 X-STRs; 14.4% of 554 alleles) identified in Torghut Mongols were not identified in Jalaid Mongols, while 155 alleles (84 A-STRs, 59 Y-STRs and 12 X-STRs; 24.6% of 630 alleles) identified in Jalaid Mongols were not observed in Torghut Mongols. Calculation of the forensic parameters demonstrated that the STRs and SNPs analyzed here could be employed in forensic applications. Interpopulation comparisons via principal component analysis (PCA), phylogenetic tree, and STRUCTURE analysis showed that the two Mongolian populations were closely related by their genetic background, although genetic differences were also discovered. When both the sequence-based A-STRs and iiSNPs were included in the STRUCTURE analysis, the Torghut population was more similar to the Uyghur population than to Jalaid Mongols, indicating certain population structure differences between the two Mongolian populations. The Y-DNA haplogroup prediction showed that although haplogroup C (C2-M217) was dominant in both Mongolian populations, haplogroup O2-M122 was rarely presented in Torghut Mongols, which differentiated the Torghut Mongols from the other Mongolian populations. This study not only uncovered the genetic features of the two Mongolian tribes, providing valuable frequency data for forensic applications, but the genetic patterns of the two Mongolian populations also provide a genetic evidence that the Torghut Mongols may have developed via the gradual intermixing of nomadic groups of Mongol and Turkic origin, as recorded in historical records. This study also highlighted the importance of building regional reference databases that consider both ethnic and geographic location information, instead of a more universal reference database, for forensic applications.

Y-Chromosome Marker Characterization of Epipaleolithic and Neolithic Groups of Southern India

The aim of the study is to investigate the Y-chromosome unique event polymorphisms (UEPs), to know the origin and past demographic history of paternal lineages, genetic relatedness, and admixtures in two tribal populations of Southern India. A total of 106 male samples from two Dravidian speaking tribal populations of Southern India: Urali Kuruman (n = 50) and Melakudiya (n = 56) were analyzed. A set of 30 bi-allelic UEP markers of the non-recombining region of the Y-chromosome was sequenced by the Sanger sequencing method. The phylogenetic analysis of the two populations revealed six Y-chromosome haplogroups: C, F*, H, K*, L*, and R2. The Urali Kuruman Y-chromosome lineage was predominantly of native origin clustering with other Dravidian tribes of the region, whereas the Melakudiya Y-chromosome lineage clustered with the people of Near East, and other Indo-European speakers of India.