Haplogroup Frequencies Research Articles

The ancient cline of haplogroup K implies that the Neolithic transition in Europe was mainly demic

Using a database with the mitochondrial DNA (mtDNA) of 513 Neolithic individuals, we quantify the space-time variation of the frequency of haplogroup K, previously proposed as a relevant Neolithic marker. We compare these data to simulations, based on a mathematical model in which a Neolithic population spreads from Syria to Anatolia and Europe, possibly interbreeding with Mesolithic individuals (who lack haplogroup K) and/or teaching farming to them. Both the data and the simulations show that the percentage of haplogroup K (%K) decreases with increasing distance from Syria and that, in each region, the %K tends to decrease with increasing time after the arrival of farming. Both the model and the data display a local minimum of the genetic cline, and for the same Neolithic regional culture (Sweden). Comparing the observed ancient cline of haplogroup K to the simulation results reveals that about 98% of farmers were not involved in interbreeding neither acculturation (cultural diffusion). Therefore, cultural diffusion involved only a tiny fraction (about 2%) of farmers and, in this sense, the most relevant process in the spread of the Neolithic in Europe was demic diffusion (i.e., the dispersal of farmers), as opposed to cultural diffusion (i.e., the incorporation of hunter-gatherers).

Dispersals of the Siberian Y-chromosome haplogroup Q in Eurasia

The human Y-chromosome has proven to be a powerful tool for tracing the paternal history of human populations and genealogical ancestors. The human Y-chromosome haplogroup Q is the most frequent haplogroup in the Americas. Previous studies have traced the origin of haplogroup Q to the region around Central Asia and Southern Siberia. Although the diversity of haplogroup Q in the Americas has been studied in detail, investigations on the diffusion of haplogroup Q in Eurasia and Africa are still limited. In this study, we collected 39 samples from China and Russia, investigated 432 samples from previous studies of haplogroup Q, and analyzed the single nucleotide polymorphism (SNP) subclades Q1a1a1-M120, Q1a2a1-L54, Q1a1b-M25, Q1a2-M346, Q1a2a1a2-L804, Q1a2b2-F1161, Q1b1a-M378, and Q1b1a1-L245. Through NETWORK and BATWING analyses, we found that the subclades of haplogroup Q continued to disperse from Central Asia and Southern Siberia during the past 10,000 years. Apart from its migration through the Beringia to the Americas, haplogroup Q also moved from Asia to the south and to the west during the Neolithic period, and subsequently to the whole of Eurasia and part of Africa.

ID: 1049 Variation of mitochondrial DNA HV1 and HV2 of the Vietnamese population

The sequence polymorphism of mitochondrial DNA (mtDNA) hypervariable Segment 1 (HV1) and hypervariable Segment 2 (HV2) are studied and applied to genetic diversity and human evolution assessment, forensic genetics, consanguinity determination, and mitochondrial disease diagnosis.
 Nucleotide sequence variations in HV1 and HV2, two hypervariable segments of the noncoding control region of human mitochondrial DNA (mtDNA), in selected ethnics of the Vietnamese population were elucidated through sequencing. In this study, we define the variations of HV1 and HV2 of 517 unrelated Vietnamese individuals in Kinh, Muong, Cham, and Khmer ethnic. We found 50 haplogroups: F1a haplogroup frequency is the highest at 15.7%; B5a haplogroup frequency is 10.8%, M haplogroup frequency is 8.9%, M7b1 haplogroup frequency is 7.7%; B6, D4e, D5a, E, F1c, F2a, F3a, G2a, M9b, N, N21 and U5a haplogroup frequencies are the lowest (1%). The frequency of SNP A263G are 100%; A73G is 99.6%, 315insC is 96%; 309insC is 56%; C16223T is 41%, and T16189C is 39%. We have assessed the genetic polymorphism of mtDNA HV1 and HV2 of 517 Kinh, Muong, Cham, Khmer ethnic samples.

Goat domestication and breeding: a jigsaw of historical, biological and molecular data with missing pieces.

Domestic goats (Capra hircus) are spread across the five continents with a census of 1billion individuals. The worldwide population of goats descends from a limited number of bezoars (Capra aegagrus) domesticated 10000 YBP (years before the present) in the Fertile Crescent. The extraordinary adaptability and hardiness of goats favoured their rapid spread over the Old World, reaching the Iberian Peninsula and Southern Africa 7000 YBP and 2000 YBP respectively. Molecular studies have revealed one major mitochondrial haplogroup A and five less frequent haplogroups B, C, D, F and G. Moreover, the analysis of autosomal and Y-chromosome markers has evidenced an appreciable geographic differentiation. The implementation of new molecular technologies, such as whole-genome sequencing and genome-wide genotyping, allows for the exploration of caprine diversity at an unprecedented scale, thus providing new insights into the evolutionary history of goats. In spite of a number of pitfalls, the characterization of the functional elements of the goat genome is expected to play a key role in understanding the genetic determination of economically relevant traits. Genomic selection and genome editing also hold great potential, particularly for improving traits that cannot be modified easily by traditional selection.

High Y-chromosomal Differentiation Among Ethnic Groups of Dir and Swat Districts, Pakistan.

The ethnic groups that inhabit the mountainous Dir and Swat districts of northern Pakistan are marked by high levels of cultural and phenotypic diversity. To obtain knowledge of the extent of genetic diversity in this region, we investigated Y-chromosomal diversity in five population samples representing the three main ethnic groups residing within these districts, including Gujars, Pashtuns and Kohistanis. A total of 27 Y-chromosomal short tandem repeats (Y-STRs) and 331 Y-chromosomal single nucleotide polymorphisms (Y-SNPs) were investigated. In the Y-STRs, we observed very high and significant levels of genetic differentiation in nine of the 10 pairwise between-group comparisons (RST 0.179-0.746), and the differences were mirrored in the Y-SNP haplogroup frequency distribution. No genetic differences were found between the two Pashtun subethnic groups Tarklanis and Yusafzais (RST = 0.000). Utmankhels, also considered Pashtuns culturally, were not closely related to any of the other population samples (RST 0.451-0.746). Thus, our findings provide examples of both associations and dissociations between cultural and genetic legacies. When analyzed within a larger continental-scale context, these five ethnic groups fall mostly outside the previously characterized Y-chromosomal gene pools of the Indo-Pakistani subcontinent. Male founder effects, coupled with culturally and topographically based constraints upon marriage and movement, are likely responsible for the high degree of genetic structure in this region.

Genetic Structure of First Nation Communities in the Pacific Northwest

This study presents genetic data for nine Native American populations from northern North America. Analyses of genetic variation focus on the Pacific Northwest (PNW). Using mitochondrial, Y chromosomal, and autosomal DNA variants, we aimed to more closely address the relationships of geography and language with present genetic diversity among the regional PNW Native American populations. Patterns of genetic diversity exhibited by the three genetic systems were consistent with our hypotheses: genetic variation was more strongly explained by geographic proximity than by linguistic structure. Our findings were corroborated through a variety on analytic approaches, with the unrooted trees for the three genetic systems consistently separating inland from coastal PNW populations. Furthermore, analyses of molecular variance support the trends exhibited by the unrooted trees, with geographic partitioning of PNW populations ( F CT = 19.43%, p = 0.010 ± 0.009) accounting for over twice as much of the observed genetic variation as linguistic partitioning of the same populations ( F CT = 9.15%, p = 0.193 ± 0.013). These findings demonstrate a consensus with previous PNW population studies examining the relationships of genome-wide variation, mitochondrial haplogroup frequencies, and skeletal morphology with geography and language.

The Connection of the Genetic, Cultural and Geographic Landscapes of Transoxiana

We have analyzed Y-chromosomal variation in populations from Transoxiana, a historical region covering the southwestern part of Central Asia. We studied 780 samples from 10 regional populations of Kazakhs, Uzbeks, Turkmens, Dungans, and Karakalpaks using 35 SNP and 17 STR markers. Analysis of haplogroup frequencies using multidimensional scaling and principal component plots, supported by an analysis of molecular variance, showed that the geographic landscape of Transoxiana, despite its distinctiveness and diversity (deserts, fertile river basins, foothills and plains) had no strong influence on the genetic landscape. The main factor structuring the gene pool was the mode of subsistence: settled agriculture or nomadic pastoralism. Investigation of STR-based clusters of haplotypes and their ages revealed that cultural and demic expansions of Transoxiana were not closely connected with each other. The Arab cultural expansion introduced Islam to the region but did not leave a significant mark on the pool of paternal lineages. The Mongol expansion, in contrast, had enormous demic success, but did not impact cultural elements like language and religion. The genealogy of Muslim missionaries within the settled agricultural communities of Transoxiana was based on spiritual succession passed from teacher to disciple. However, among Transoxianan nomads, spiritual and biological succession became merged.

The distribution of mitochondrial DNA haplogroup H in southern Iberia indicates ancient human genetic exchanges along the western edge of the Mediterranean

BackgroundThe structure of haplogroup H reveals significant differences between the western and eastern edges of the Mediterranean, as well as between the northern and southern regions. Human populations along the westernmost Mediterranean coasts, which were settled by individuals from two continents separated by a relatively narrow body of water, show the highest frequencies of mitochondrial haplogroup H. These characteristics permit the analysis of ancient migrations between both shores, which may have occurred via primitive sea crafts and early seafaring. We collected a sample of 750 autochthonous people from the southern Iberian Peninsula (Andalusians from Huelva and Granada provinces). We performed a high-resolution analysis of haplogroup H by control region sequencing and coding SNP screening of the 337 individuals harboring this maternal marker. Our results were compared with those of a wide panel of populations, including individuals from Iberia, the Maghreb, and other regions around the Mediterranean, collected from the literature.ResultsBoth Andalusian subpopulations showed a typical western European profile for the internal composition of clade H, but eastern Andalusians from Granada also revealed interesting traces from the eastern Mediterranean. The basal nodes of the most frequent H sub-haplogroups, H1 and H3, harbored many individuals of Iberian and Maghrebian origins. Derived haplotypes were found in both regions; haplotypes were shared far more frequently between Andalusia and Morocco than between Andalusia and the rest of the Maghreb. These and previous results indicate intense, ancient and sustained contact among populations on both sides of the Mediterranean.ConclusionsOur genetic data on mtDNA diversity, combined with corresponding archaeological similarities, provide support for arguments favoring prehistoric bonds with a genetic legacy traceable in extant populations. Furthermore, the results presented here indicate that the Strait of Gibraltar and the adjacent Alboran Sea, which have often been assumed to be an insurmountable geographic barrier in prehistory, served as a frequently traveled route between continents.

Ancient mitochondrial DNA and ancestry of Paquimé inhabitants, Casas Grandes (A.D. 1200-1450).

The Casas Grandes (Paquimé) culture, located in the Northwest of Chihuahua, Mexico reached its apogee during the Medio Period (A.D. 1200-1450). Paquimé was abandoned by the end of the Medio Period (A.D. 1450), and the ancestry of its inhabitants remains unsolved. Some authors suggest that waves of Mesoamerican immigrants, possibly merchants, stimulated Paquimé's development during the Medio Period. Archaeological evidence suggests possible ties to groups that inhabited the Southwestern US cultures. This study uses ancient DNA analysis from fourteen samples to estimate genetic affinities of ancient Paquimé inhabitants. DNA was extracted from 14 dental ancient samples from Paquimé. PCR and Sanger sequencing were used to obtain mitochondrial control region sequences. Networks, PCoA, and Nei genetic distances were estimated to compare Paquimé haplotypes against available past haplotypes data from Southwestern and Mesoamerican groups. Haplogroups were characterized for 11 of the samples, and the results revealed the presence of four distinct Amerindian mitochondrial lineages: B (n = 5; 45%), A (n = 3; 27%), C (n = 2; 18%) and D (n = 1; 10%). Statistical analysis of the haplotypes, haplogroup frequencies, and Nei genetic distances showed close affinity of Paquimé with Mimbres. Although our results provide strong evidence of genetic affinities between Paquimé and Mimbres, with the majority of haplotypes shared or derived from ancient Southwest populations, the causes of cultural development at Paquimé still remain a question. These preliminary results provide evidence in support of other bioarchaeological studies, which have shown close biological affinities between Paquimé and Mimbres, a Puebloan culture, in the Southwestern US.

Additional analysis of mtDNA from the Tommy and Mine Canyon sites

Ancient mitochondrial DNA analysis of samples from the Chaco outlier Tommy and Mine Canyon sites (dating to PII and PIII, respectively, and located near Farmington, New Mexico) originally revealed distinctly different haplogroup frequency distributions from one another. An additional twelve samples were added to those already published (Snow et al., 2010), bringing the total number of individuals with mitochondrial DNA data to 60. The additional samples diminished this difference but maintained the statistically significant distinction between the sites, pointing to a potential sampling bias at the Mine Canyon Site that might explain some, but not all, of the difference. The sites were compared with those from both modern and prehistoric populations in the desert Southwest and Mexico to better understand the regional context of the inhabitants, as well as inter-regional relationships, demonstrating that the Tommy Site fits well within the general Southwestern pattern, while the Mine Canyon Site stands out due to its higher than normal frequency of haplogroup A2. Thirteen burials from a kiva structure at the Mine Canyon Site are compared to the remainder of the excavated burials from the site in terms of mtDNA, burial position, pathology, and grave goods. The statistically significant differences of the kiva burials are discussed in terms of possible evidence of site abandonment, disease, slavery, and witchcraft.

Mitochondrial DNA diversity in a Transbaikalian Xiongnu population

Xiongnu was a confederation of nomadic pastoral tribes (~200 bc–100 ad) that founded the first nomadic empire in Central Asia. According to archeological and historical data, the tribes played a key role in ethnic and cultural processes in Central Asia and adjacent regions of Eurasia. Genetic studies of the Xiongnu published to date have focused on remains from burial grounds in present-day Mongolia, in the southern part of the ancient Xiongnu area. However, paleoanthropological materials from numerous Xiongnu cemeteries and settlements in Transbaikalia (the southern region of Eastern Siberia, Russia) in the northern part of the Xiongnu Empire have not been examined genetically. Here, we analyzed mitochondrial DNA variation in a Transbaikalian Xiongnu population based on ancient DNA obtained from skeletal remains (n = 18) at four burial grounds to complement available Xiongnu genetic diversity data. We detected 16 mitochondrial DNA haplotypes belonging to seven East Eurasian haplogroups (A, B5, C, D4, G2a, N9a, and Y) in the Transbaikalian Xiongnu series. We observed substantial similarity between Transbaikalian and Mongolian Xiongnu series with respect to main haplogroup composition and frequencies. We observed several mitochondrial DNA clusters (N9a, Y, B5, and A16) and 11 of 16 haplotypes that were previously undetected in the Xiongnu gene pool. We also observed high similarity between the Xiongnu and contemporary indigenous populations of eastern Central Asia, particularly Mongolian-speaking groups. These findings extend our knowledge of Xiongnu genetic diversity.

Genetic affinities among the historical provinces of Romania and Central Europe as revealed by an mtDNA analysis

BackgroundAs a major crossroads between Asia and Europe, Romania has experienced continuous migration and invasion episodes. The precise routes may have been shaped by the topology of the territory and had diverse impacts on the genetic structure of mitochondrial DNA (mtDNA) in historical Romanian provinces. We studied 714 Romanians from all historical provinces, Wallachia, Dobrudja, Moldavia, and Transylvania, by analyzing the mtDNA control region and coding markers to encompass the complete landscape of mtDNA haplogroups.ResultsWe observed a homogenous distribution of the majority of haplogroups among the Romanian provinces and a clear association with the European populations. A principal component analysis and multidimensional scaling analysis supported the genetic similarity of the Wallachia, Moldavia, and Dobrudja groups with the Balkans, while the Transylvania population was closely related to Central European groups. These findings could be explained by the topology of the Romanian territory, where the Carpathian Arch played an important role in migration patterns. Signals of Asian maternal lineages were observed in all Romanian historical provinces, indicating gene flow along the migration routes through East Asia and Europe.ConclusionsOur current findings based on the mtDNA analysis of populations in historical provinces of Romania suggest similarity between populations in Transylvania and Central Europe, supported both by the observed clines in haplogroup frequencies for several European and Asian maternal lineages and MDS analyses.

Mitochondrial DNA analysis of eneolithic trypillians from Ukraine reveals neolithic farming genetic roots.

The agricultural revolution in Eastern Europe began in the Eneolithic with the Cucuteni-Trypillia culture complex. In Ukraine, the Trypillian culture (TC) existed for over two millennia (ca. 5,400–2,700 BCE) and left a wealth of artifacts. Yet, their burial rituals remain a mystery and to date almost nothing is known about the genetic composition of the TC population. One of the very few TC sites where human remains can be found is a cave called Verteba in western Ukraine. This report presents four partial and four complete mitochondrial genomes from nine TC individuals uncovered in the cave. The results of this analysis, combined with the data from previous reports, indicate that the Trypillian population at Verteba carried, for the most part, a typical Neolithic farmer package of mitochondrial DNA (mtDNA) lineages traced to Anatolian farmers and Neolithic farming groups of central Europe. At the same time, the find of two specimens belonging to haplogroup U8b1 at Verteba can be viewed as a connection of TC with the Upper Paleolithic European populations. At the level of mtDNA haplogroup frequencies, the TC population from Verteba demonstrates a close genetic relationship with population groups of the Funnel Beaker/ Trichterbecker cultural complex from central and northern Europe (ca. 3,950–2,500 BCE).

Genetic characterization of Balkars and Karachays according to the variability of the Y chromosome

The genetic diversity in two ethnic groups of the central part of the North Caucasus (Balkars and Karachays) using 50 diallelic loci in the non-recombining region of the Y chromosome was analyzed. For the first time, an analysis of distribution of frequencies of Y-chromosome haplogroups in Balkars considering different subethnic groups (Baksans, Chegems, Kholams, Bezengiyevs, and Malkars) was conducted. The major Y-chromosome haplogroups in the studied groups of Balkars and Karachays were G2a-P16 and R1a- Z2123. In addition, for a better understanding of genetic relationship between the male lineages in the studied populations and other populations of the Caucasus, we performed an analysis of R1a-M198 subhaplogroups in 22 populations of this region. The principal component analysis demonstrated that a greater difference was observed between Kholams and the other Balkar subgroups. According to the F st analysis, Chegems, for which the prevalence of haplogroup R1b-M478 (32.2%) was reported, demonstrated the maximum difference from the other subpopulations of Balkars and Karachays.

Sex-specific genetic diversity is shaped by cultural factors in Inner Asian human populations.

Sex-specific genetic structures have been previously documented worldwide in humans, even though causal factors have not always clearly been identified. In this study, we investigated the impact of ethnicity, geography and social organization on the sex-specific genetic structure in Inner Asia. Furthermore, we explored the process of ethnogenesis in multiple ethnic groups. We sampled DNA in Central and Northern Asia from 39 populations of Indo-Iranian and Turkic-Mongolic native speakers. We focused on genetic data of the Y chromosome and mitochondrial DNA. First, we compared the frequencies of haplogroups to South European and East Asian populations. Then, we investigated the genetic differentiation for eight Y-STRs and the HVS1 region, and tested for the effect of geography and ethnicity on such patterns. Finally, we reconstructed the male demographic history, inferred split times and effective population sizes of different ethnic groups. Based on the haplogroup data, we observed that the Indo-Iranian- and Turkic-Mongolic-speaking populations have distinct genetic backgrounds. However, each population showed consistent mtDNA and Y chromosome haplogroups patterns. As expected in patrilocal populations, we found that the Y-STRs were more structured than the HVS1. While ethnicity strongly influenced the genetic diversity on the Y chromosome, geography better explained that of the mtDNA. Furthermore, when looking at various ethnic groups, we systematically found a genetic split time older than historical records, suggesting a cultural rather than biological process of ethnogenesis. This study highlights that, in Inner Asia, specific cultural behaviors, especially patrilineality and patrilocality, leave a detectable signature on the sex-specific genetic structure.

Absence of Relationship between Mitochondrial DNA Haplogroups and Cisplatin-Induced Hearing Loss.

Background Many drugs used for cancer chemotherapy produce reactive oxygen species, thus leading to various complications including nephrotoxicity, cardiotoxicity, and ototoxicity. Objective We have provided a haplogroup analysis of a cohort of cancer patients treated with chemotherapy and compared factors associated with associated hearing loss. Study Design and Methods This observational cohort study includes a pure-tone audiometry of the patients who underwent chemotherapeutic treatment. Medical history, presence of risk factors for hearing loss, toxic habits, and association with haplogroups have been determined. Results 40% of patients developed hearing loss after administration of cisplatin, which was bilateral and symmetrical and of high frequencies. The most frequent haplogroup was H with a slight overexpression of groups V and K and a low frequency of groups J and T. No association of the haplogroup types with the hearing loss has been found; however age was revealed as an important determining factor. Conclusions Ototoxicity caused by cisplatin is manifested as bilateral, symmetrical, and predominantly high frequency hearing loss. Although we did not find a strong correlation of haplogroups with ototoxicity, our results revealed the existence of a risk group of elderly patients over 60, which are more susceptible to hearing loss induced by cisplatin, than young adults, regardless of preexisting hearing loss.

The Uniparental Genetic Landscape of Modern Slavic Speaking Populations

Slavic speaking populations are the most numerous Indo-European ethnolinguistic group in Europe. They show great variety and fall into three groups: West, East and South Slavic populations. In order to contribute to the understanding of the correlation between linguistic and genetic affiliation of Slavic populations, we have analyzed for the first time their matrilineal and patrilineal relationships and we have also illustrated their position in the European uniparental genetic landscape. For the purpose, we have collected previously published data for the frequencies of mitochondrial DNA (mtDNA) and Y-chromosome haplogroups in Slavic and other European populations and compared them by Principal Component Analysis (PCA). In the inter-Slavic population comparisons, West and East Slavs are in a closer position, whereas South Slavic populations are rather grouped on their own. In the European context, South Slavic populations are positioned more close to neighboring Balkan non-Slavic and North Italian populations, than to other Slavic populations. When considering the uniparental diversity of Slavic speaking populations, one should also take into account the prevalence of Y-chromosome haplogroup N among East Slavs (comprising almost half of the paternal gene pool in instances), which is almost absent among the other groups (not exceeding 2% - 3%). In conclusion, the data in the present study point that West-East and South Slavic speaking populations, behave as separate groups based on their uniparental genetic structure, which shows that they do not share substantial common genetic ancestry and that there is great genetic variety in the Slavic linguistic unity.

Mitochondrial DNA Analysis of Mazahua and Otomi Indigenous Populations from Estado de México Suggests a Distant Common Ancestry.

The indigenous Mazahua and Otomi have inhabited the same localities in Estado de México since pre-Columbian times. Their languages, Mazahua and Otomi, belong to the Oto-Manguean linguistic family, and although they share cultural traditions and a regional history that suggest close genetic relationships and common ancestry, the historical records concerning their origin are confusing. To understand the biological relationships between Mazahua and Otomi, we analyzed mitochondrial DNA (mtDNA) genetic variation. We identified the mtDNA haplogroups by restriction fragment length polymorphism typing and sequenced hypervariable region 1 of the mtDNA control region in 141 Mazahua and 100 Otomi. These results showed that Otomi exhibit a higher frequency of haplogroup A than B, whereas Mazahua exhibit the opposite pattern. In the Otomi EM population the most frequent subhaplogroups are, in order of frequency, A2, B2, and C1, whereas in the Mazahua 1 population they are B2, D1, and A2. The most frequent haplotypes (Ht) of haplogroups A and B are Ht2 (A) and Ht58 (B2g1) in Mazahua 1 and Ht8 (A2), Ht22 (A2ao1), and Ht53 (B2c2b) in Otomi EM. The genetic differences between the Mazahua 1 and Otomi EM suggest a distant shared ancestry and a moderate degree of maternal admixture that has not obscured the difference of their mtDNA patterns. These unexpected results suggest the Mazahua and Otomi probably descend from the same group but separated very early and admixed with other Mesoamerican populations before their arrival in Central Mexico. The historical evidence of conflicting relations between the Mazahua and Otomi and the almost nonexistence of marriage between them could be responsible for maintaining only a moderate degree of maternal admixture.

Phylogeography, genetic diversity and demographic history of the Iranian Kurdish groups based on mtDNA sequences.

Throughout the history of modern humans, the current Kurdish-inhabited area has served as part of a tricontinental crossroad for major human migrations. Also, a significant body of archaeological evidence points to this area as the site of Neolithic transition. To investigate the phylogeography, origins and demographic history, mtDNA D-loop region of individuals representing four Kurdish groups from Iran were analysed. Our data indicated that most of the Kurds mtDNA lineages belong to branches of the haplogroups with the Western Eurasian origin; with small fractions of the Eastern Eurasian and sub-Saharan African lineages. The low level of mtDNA diversity observed in the Havrami group presented a bias towards isolation or increased drift due to small population size; while in the Kurmanji group it indicated a bias towards drift or mass migration events during the 5-18th century AD. The Mantel test showed strong isolation by distance, and AMOVA results for global and regional scales confirmed that the geography had acted as the main driving force in shaping the current pattern of mtDNA diversity, rather than linguistic similarity. The results of demographic analyses, in agreement with archaeological data, revealed a recent expansion of the Kurds (~9,500 years before present) related to the Neolithic transition from hunting and gathering, to farming and cattle breeding in the Near East. Further, the high frequencies of typical haplogroups for early farmers (H; 37.1%) and hunter-gatherers (U; 13.8%) in the Kurds may testify the earlier hunter-gatherers in the Kurdish-inhabited area that adopted and admixed the Kurds ancestors following the Neolithic transition.

Inferring paternal history of rural African-derived Brazilian populations from Y chromosomes.

Quilombo remnants are relics of communities founded by runaway or abandoned African slaves, but often with subsequent extensive and complex admixture patterns with European and Native Americans. We combine a genetic study of Y-chromosome markers with anthropological surveys in order to obtain a portrait of quilombo structure and history in the region that has the largest number of quilombo remnants in the state of São Paulo. Samples from 289 individuals from quilombo remnants were genotyped using a set of 17 microsatellites on the Y chromosome (AmpFlSTR-Yfiler). A subset of 82 samples was also genotyped using SNPs array (Axiom Human Origins-Affymetrix). We estimated haplotype and haplogroup frequencies, haplotype diversity and sharing, and pairwise genetic distances through FST and RST indexes. We identified 95 Y chromosome haplotypes, classified into 15 haplogroups. About 63% are European, 32% are African, and 6% Native American. The most common were: R1b (European, 34.2%), E1b1a (African, 32.3%), J1 (European, 6.9%), and Q (Native American, 6.2%). Genetic differentiation among communities was low (FST = 0.0171; RST = 0.0161), and haplotype sharing was extensive. Genetic, genealogical and oral surveys allowed us to detect five main founder haplotypes, which explained a total of 27.7% of the Y chromosome lineages. Our results showed a high European patrilineal genetic contribution among the founders of quilombos, high amounts of gene flow, and a recent common origin of these populations. Common haplotypes and genealogical data indicate the origin of quilombos from a few male individuals. Our study reinforces the importance of a dual approach, involving the analysis of both anthropological and genetic data.