Monika Karmin

• University of Tartu

Island Southeast Asia (ISEA) and Oceania host one of the world's richest assemblages of human phenotypic, linguistic, and cultural diversity. Despite this, the region's male genetic lineages are globally among the last to remain unresolved. We compiled ∼9.7 Mb of Y chromosome (chrY) sequence from a diverse sample of over 380 men from this region, i...

Uniparental genetic systems are unique sex indicators and complement the study of autosomal diversity by providing landmarks of human migrations that repeatedly shaped the structure of extant populations. Our knowledge of the variation of the male-specific region of the Y chromosome in Native Americans is still rather scarce and scattered, but by m...

The most frequent Y-chromosomal (chrY) haplogroups in northern and eastern Europe (NEE) are well-known and thoroughly characterised. Yet a considerable number of men in every population carry rare paternal lineages with estimated frequencies around 5%. So far, limited sample-sizes and insufficient resolution of genotyping have obstructed a truly co...

Human Y chromosome haplogroup J1-M267 is a common male lineage in West Asia. One high-frequency region—encompassing the Arabian Peninsula, southern Mesopotamia, and the southern Levant—resides ~ 2000 km away from the other one found in the Caucasus. The region between them, although has a lower frequency, nevertheless demonstrates high genetic dive...

The phylogenetic analysis of Y chromosomal haplogroup O2a-M95 was crucial to determine the nested structure of South Asian branches within the larger tree, predominantly present in East and Southeast Asia. However, it had previously been unclear that how many founders brought the haplogroup O2a-M95 to South Asia. On the basis of the updated Y chrom...

Hungarians who live in Central Europe today are one of the westernmost Uralic speakers. Despite of the proposed Volga-Ural/West Siberian roots of the Hungarian language, the present-day Hungarian gene pool is highly similar to that of the surrounding Indo-European speaking populations. However, a limited portion of specific Y-chromosomal lineages f...

Kalmyks, the only Mongolic-speaking population in Europe, live in the southeast of the European Plain, in Russia. They adhere to Buddhism and speak a dialect of the Mongolian language. Historical and linguistic evidence, as well a shared clan names, suggests a common origin with Oirats of western Mongolia; yet, only a limited number of genetic stud...

Background: The genetic origins of Uralic speakers from across a vast territory in the temperate zone of North Eurasia have remained elusive. Previous studies have shown contrasting proportions of Eastern and Western Eurasian ancestry in their mitochondrial and Y chromosomal gene pools. While the maternal lineages reflect by and large the geograph...

The debate concerning the origin of the Polynesian speaking peoples has been recently reinvigorated by genetic evidence for secondary migrations to western Polynesia from the New Guinea region during the 2nd millennium BP. Using genome-wide autosomal data from the Leeward Society Islands, the ancient cultural hub of eastern Polynesia, we find that...

Approximately 300,000 men around the globe self-identify as Ashkenazi Levites, of whom two thirds were previously shown to descend from a single male. The paucity of whole Y-chromosome sequences precluded conclusive identification of this ancestor's age, geographic origin and migration patterns. Here, we report the variation of 486 Y-chromosomes wi...

Background The Parsis are one of the smallest religious communities in the world. To understand the population structure and demographic history of this group in detail, we analyzed Indian and Pakistani Parsi populations using high-resolution genetic variation data on autosomal and uniparental loci (Y-chromosomal and mitochondrial DNA). Additionall...

Background The Parsis, one of the smallest religious community in the world, reside in South Asia. Previous genetic studies on them, although based on low resolution markers, reported both Iranian and Indian ancestries. To understand the population structure and demographic history of this group in more detail, we analyzed Indian and Pakistani Pars...

Human mitochondrial DNA haplogroup U is among the initial maternal founders in Southwest Asia and Europe and one that best indicates matrilineal genetic continuity between late Pleistocene hunter-gatherer groups and present-day populations of Europe. While most haplogroup U subclades are older than 30 thousand years, the comparatively recent coales...

Readable link: http://rdcu.be/kt5n High-coverage whole-genome sequence studies have so far focused on a limited number of geographically restricted populations or been targeted at specific diseases, such as cancer. Nevertheless, the availability of high-resolution genomic data has led to the development of new methodologies for inferring populatio...

The paternal haplogroup (hg) N is distributed from southeast Asia to eastern Europe. The demographic processes that have shaped the vast extent of this major Y chromosome lineage across numerous linguistically and autosomally divergent populations have previously been unresolved. On the basis of 94 high-coverage re-sequenced Y chromosomes, we estab...

How and when the Americas were populated remains contentious. Using ancient and modern genome-wide data, we find that the ancestors of all present-day Native Americans, including Athabascans and Amerindians, entered the Americas as a single migration wave from Siberia no earlier than 23 thousand years ago (KYA), and after no more than 8,000-year is...

How and when the Americas were populated remains contentious. Using ancient and modern genome-wide data, we found that the ancestors of all present-day Native Americans, including Athabascans and Amerindians, entered the Americas as a single migration wave from Siberia no earlier than 23 thousand years ago (ka) and after no more than an 8000-year i...

It is commonly thought that human genetic diversity in non-African populations was shaped primarily by an out-of-Africa dispersal 50-100 thousand yr ago (kya). Here, we present a study of 456 geographically diverse high-coverage Y chromosome sequences, including 299 newly reported samples. Applying ancient DNA calibration, we date the Y-chromosomal...

The northern region of the Indian subcontinent is a vast landscape interlaced by diverse ecologies, for example, the Gangetic Plain and the Himalayas. A great number of ethnic groups are found there, displaying a multitude of languages and cultures. The Tharu is one of the largest and most linguistically diverse of such groups, scattered across the...

Clovis, with its distinctive biface, blade and osseous technologies, is the oldest widespread archaeological complex defined in North America, dating from 11,100 to 10,700 (14)C years before present (bp) (13,000 to 12,600 calendar years bp). Nearly 50 years of archaeological research point to the Clovis complex as having developed south of the Nort...

The origins of the First Americans remain contentious. Although Native Americans seem to be genetically most closely related to east Asians, there is no consensus with regard to which specific Old World populations they are closest to. Here we sequence the draft genome of an approximately 24,000-year-old individual (MA-1), from Mal'ta in south-cent...

Linguistic and genetic studies on Roma populations inhabited in Europe have unequivocally traced these populations to the Indian subcontinent. However, the exact parental population group and time of the out-of-India dispersal have remained disputed. In the absence of archaeological records and with only scanty historical documentation of the Roma,...

Detailed materials and methods . (DOC)

Details of the Indian and Nepali samples included in the present study and haplogroup H1a1a-M82 frequencies. (DOC)

Multidimensional scaling plot of the Rst distances of the population groups based on haplogroup H1a1a-M82 Y-STR data. (TIF)

The 15 loci Y-STR profile of haplogroup H1a1a-M82 belonging to Indian, Afghani and European Roma population, used in the present analysis. (DOC)

Average mutational distances from Roma Modal haplotype. (DOC)

The frequency of haplogroup H1a1a-M82 among different world populations. (DOC)

Mean pairwise Fst between different studied groups for haplogroup H1a1a-M82. (DOC)

Regionwise haplogroup frequency in India and Nepal. (DOC)

Modal H1a1a-M82 Y-STR haplotype of different population groups. (DOC)

Human populations, along with those of many other species, are thought to have contracted into a number of refuge areas at the height of the last Ice Age. European populations are believed to be, to a large extent, the descendants of the inhabitants of these refugia, and some extant mtDNA lineages can be traced to refugia in Franco-Cantabria (haplo...

We present an Aboriginal Australian genomic sequence obtained from a 100-year-old lock of hair donated by an Aboriginal man from southern Western Australia in the early 20th century. We detect no evidence of European admixture and estimate contamination levels to be below 0.5%. We show that Aboriginal Australians are descendants of an early human d...

The geographic origin and time of dispersal of Austroasiatic (AA) speakers, presently settled in south and southeast Asia, remains disputed. Two rival hypotheses, both assuming a demic component to the language dispersal, have been proposed. The first of these places the origin of Austroasiatic speakers in southeast Asia with a later dispersal to s...

Details of the samples studied for hg R7 in the present study. Data shown are from the present work and from literature: [4,12,14,21,22,41-46].

Phylogenetic tree of 22 Indian complete mtDNA sequences of superhaplogroup R. The tree includes data reported [[4] and references there in] Suffixes A, C, G, and T indicate transversions, "d" signifies a deletion; recurrent mutations are underlined. 16182C, 16183C and 16519 polymorphisms are omitted in phylogenetic reconstruction. The sample code,...

Map of Indian subcontinent depicting the spatial frequency distribution of mtDNA haplogroup R7. Isofrequency maps were generated by using Surfer7 Golden software (Golden Software Inc., Golden, Colorado), following the Kriging procedure. The spread of R7 in India is centered around the AA "heartland" (Bihar, Jharkhand, and Chhattisgarh). Dots indica...

Spatial Autocorrelation Analyses Correlograms of haplogroup R7 in Indian subcontinent. The Moran's I coefficient was calculated with five distance classes in binary weight matrix. Significant values are shown as black (p < .05) whereas nonsignificant values as blank circles. Distances are given in Kilometers (KM's).

Map of India showing the frequency distribution (%) of haplogroup R7 at the district level. Only 2,200 samples were available at this resolution. Nevertheless, it is still evident that the frequency peak of R7 is observed in Bihar, Jharkhand, Chhattisgarh, Madhya-Pradesh and the northern districts of Andhra-Pradesh (Adilabad, Warangal and Khammam).

Haplogroup R5-8, R30 and R31 frequency plots with 95% credible regions. Data calculated from the posterior distribution of the proportion of a haplogroup/sub-haplogroup in the population. Linguistic affiliations of the populations are indicated by colors.

KEYWORDS Mushar; language shift; mtDNA; Y-chromosome ABSTRACT Language shift is a phenomenon where a new language is adopted by a population with virtually no influence on its genetic makeup. We report here the results of a case study, carried out on the Mushar populations, which is thought to have undergone language shift from Munda (an Austro-Asi...