title: The Himalayas as a directional barrier to gene flow.
abstract: High-resolution Y-chromosome haplogroup analyses coupled with Y-short tandem repeat (STR) haplotypes were used to (1) investigate the genetic affinities of three populations from Nepal--including Newar, Tamang, and people from cosmopolitan Kathmandu (referred to as "Kathmandu" subsequently)--as well as a collection from Tibet and (2) evaluate whether the Himalayan mountain range represents a geographic barrier for gene flow between the Tibetan plateau and the South Asian subcontinent. The results suggest that the Tibetans and Nepalese are in part descendants of Tibeto-Burman-speaking groups originating from Northeast Asia. All four populations are represented predominantly by haplogroup O3a5-M134-derived chromosomes, whose Y-STR-based age (+/-SE) was estimated at 8.1+/-2.9 thousand years ago (KYA), more recent than its Southeast Asian counterpart. The most pronounced difference between the two regions is reflected in the opposing high-frequency distributions of haplogroups D in Tibet and R in Nepal. With the exception of Tamang, both Newar and Kathmandu exhibit considerable similarities to the Indian Y-haplogroup distribution, particularly in their haplogroup R and H composition. These results indicate gene flow from the Indian subcontinent and, in the case of haplogroup R, from Eurasia as well, a conclusion that is also supported by the admixture analysis. In contrast, whereas haplogroup D is completely absent in Nepal, it accounts for 50.6% of the Tibetan Y-chromosome gene pool. Coalescent analyses suggest that the expansion of haplogroup D derivatives--namely, D1-M15 and D3-P47 in Tibet--involved two different demographic events (5.1+/-1.8 and 11.3+/-3.7 KYA, respectively) that are more recent than those of D2-M55 representatives common in Japan. Low frequencies, relative to Nepal, of haplogroup J and R lineages in Tibet are also consistent with restricted gene flow from the subcontinent. Yet the presence of haplogroup O3a5-M134 representatives in Nepal indicates that the Himalayas have been permeable to dispersals from the east. These genetic patterns suggest that this cordillera has been a biased bidirectional barrier.
authors: Department of Biological Sciences, Florida International University, Miami, FL 33199, USA.
authors: Tenzin
authors: T
authors: Gayden
authors: Alicia M
authors: AM
authors: Cadenas
authors: Maria
authors: M
authors: Regueiro
authors: Nanda B
authors: NB
authors: Singh
authors: Lev A
authors: LA
authors: Zhivotovsky
authors: Peter A
authors: PA
authors: Underhill
authors: Luigi L
authors: LL
authors: Cavalli-Sforza
authors: Rene J
authors: RJ
authors: Herrera
mesh_terms: D001208:Asia / Q000208:ethnology; D041322:Chromosomes, Human, Y / Q000235:genetics*; D005006:Ethnicity / Q000235:genetics; D051456:Gene Flow; D014644:Genetic Variation; D005828:Genetics, Population; D005843:Geography; D006239:Haplotypes; D006801:Humans; D007194:India / Q000208:ethnology; D008297:Male; D018895:Microsatellite Repeats; D009390:Nepal; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide; D018609:Tibet; D013997:Time Factors