Centre for Cellular and Molecular Biology, Hyderabad, India.
PLoS One. 2010 Dec 20;5(12):e15283. doi: 10.1371/journal.pone.0015283.
The geographical position of Maharashtra state makes it rather essential to study the dispersal of modern humans in South Asia. Several hypotheses have been proposed to explain the cultural, linguistic and geographical affinity of the populations living in Maharashtra state with other South Asian populations. The genetic origin of populations living in this state is poorly understood and hitherto been described at low molecular resolution level.
METHODOLOGY/PRINCIPAL FINDINGS: To address this issue, we have analyzed the mitochondrial DNA (mtDNA) of 185 individuals and NRY (non-recombining region of Y chromosome) of 98 individuals belonging to two major tribal populations of Maharashtra, and compared their molecular variations with that of 54 South Asian contemporary populations of adjacent states. Inter and intra population comparisons reveal that the maternal gene pool of Maharashtra state populations is composed of mainly South Asian haplogroups with traces of east and west Eurasian haplogroups, while the paternal haplogroups comprise the South Asian as well as signature of near eastern specific haplogroup J2a.
CONCLUSIONS/SIGNIFICANCE: Our analysis suggests that Indian populations, including Maharashtra state, are largely derived from Paleolithic ancient settlers; however, a more recent (∼10 Ky older) detectable paternal gene flow from west Asia is well reflected in the present study. These findings reveal movement of populations to Maharashtra through the western coast rather than mainland where Western Ghats-Vindhya Mountains and Narmada-Tapti rivers might have acted as a natural barrier. Comparing the Maharastrian populations with other South Asian populations reveals that they have a closer affinity with the South Indian than with the Central Indian populations.
马哈拉施特拉邦的地理位置使得研究南亚现代人的扩散变得非常重要。有几个假说被提出来解释生活在马哈拉施特拉邦的人群与其他南亚人群在文化、语言和地理上的亲缘关系。该邦居民的遗传起源尚未得到充分了解，迄今为止仅在低分子分辨率水平上进行了描述。
方法/主要发现：为了解决这个问题，我们分析了来自马哈拉施特拉邦两个主要部落群体的 185 个人的线粒体 DNA（mtDNA）和 98 个人的非重组 Y 染色体区（NRY），并将其分子变异与相邻邦的 54 个南亚当代人群进行了比较。种内和种间的比较显示，马哈拉施特拉邦人口的母系基因库主要由南亚单倍群组成，有东亚和西亚单倍群的痕迹，而父系单倍群则由南亚以及近东特定的 J2a 单倍群组成。
结论/意义：我们的分析表明，包括马哈拉施特拉邦在内的印度人口主要来自旧石器时代的古代定居者；然而，本研究也反映出，来自西亚的更近的（约 10 Ky 以前）可检测到的父系基因流。这些发现表明，人口是通过西海岸而不是通过横亘其间的西部高止山脉-温迪亚山脉和纳尔马达河-塔普蒂河进入马哈拉施特拉邦的，这些山脉和河流可能起到了天然屏障的作用。将马哈拉施特拉邦的人群与其他南亚人群进行比较，发现他们与南印度人群的亲缘关系比与中印度人群的亲缘关系更为密切。
