Palanichamy Malliya Gounder, Sun Chang, Agrawal Suraksha, Bandelt Hans-Jürgen, Kong Qing-Peng, Khan Faisal, Wang Cheng-Ye, Chaudhuri Tapas Kumar, Palla Venkatramana, Zhang Ya-Ping
Laboratory for Conservation and Utilization of Bioresources, Yunnan University, Chinese Academy of Sciences, Kunming, China.
Am J Hum Genet. 2004 Dec;75(6):966-78. doi: 10.1086/425871. Epub 2004 Oct 1.
To resolve the phylogeny of the autochthonous mitochondrial DNA (mtDNA) haplogroups of India and determine the relationship between the Indian and western Eurasian mtDNA pools more precisely, a diverse subset of 75 macrohaplogroup N lineages was chosen for complete sequencing from a collection of >800 control-region sequences sampled across India. We identified five new autochthonous haplogroups (R7, R8, R30, R31, and N5) and fully characterized the autochthonous haplogroups (R5, R6, N1d, U2a, U2b, and U2c) that were previously described only by first hypervariable segment (HVS-I) sequencing and coding-region restriction-fragment-length polymorphism analysis. Our findings demonstrate that the Indian mtDNA pool, even when restricted to macrohaplogroup N, harbors at least as many deepest-branching lineages as the western Eurasian mtDNA pool. Moreover, the distribution of the earliest branches within haplogroups M, N, and R across Eurasia and Oceania provides additional evidence for a three-founder-mtDNA scenario and a single migration route out of Africa.
为了解决印度本土线粒体DNA（mtDNA）单倍群的系统发育问题，并更精确地确定印度和西亚线粒体DNA库之间的关系，我们从印度各地采集的800多个控制区序列中选择了75个宏单倍群N谱系的不同子集进行全序列测序。我们鉴定出五个新的本土单倍群（R7、R8、R30、R31和N5），并对之前仅通过第一高变区（HVS-I）测序和编码区限制性片段长度多态性分析描述过的本土单倍群（R5、R6、N1d、U2a、U2b和U2c）进行了全面表征。我们的研究结果表明，即使仅限于宏单倍群N，印度线粒体DNA库中至少含有与西亚线粒体DNA库一样多的最深分支谱系。此外，单倍群M、N和R中最早分支在欧亚大陆和大洋洲的分布为三创始线粒体DNA假说和一条走出非洲的单一迁徙路线提供了额外证据。
