Lell J T, Brown M D, Schurr T G, Sukernik R I, Starikovskaya Y B, Torroni A, Moore L G, Troup G M, Wallace D C
Center for Molecular Medicine, Emory University School of Medicine, Atlanta, GA 30322, USA.
Hum Genet. 1997 Oct;100(5-6):536-43. doi: 10.1007/s004390050548.
We have initiated a study of ancient male migrations from Siberia to the Americas using Y chromosome polymorphisms. The first polymorphism examined, a C-->T transition at nucleotide position 181 of the DYS199 locus, was previously reported only in Native American populations. To investigate the origin of this DYS199 polymorphism, we screened Y chromosomes from a number of Siberian, Asian, and Native American populations for this and other markers. This survey detected the T allele in all five Native American populations studied at an average frequency of 61%, and in two of nine native Siberian populations, the Siberian Eskimo (21%) and the Chukchi (17%). This finding suggested that the DYS199 T allele may have originated in Beringia and was then spread throughout the New World by the founding populations of the major subgroups of modern Native Americans. We further characterized Native American Y chromosome variation by analyzing two additional Y chromosome polymorphisms, the DYS287 Y Alu polymorphic (YAP) element insertion and a YAP-associated A-->G transition at DYS271, both commonly found in Africans. We found neither African allele associated with the DYS199 T allele in any of the Native American or native Siberian populations. However, we did find DYS287 YAP+ individuals who harbored the DYS199 C allele in one Native American population, the Mixe, and in one Asian group, the Tibetans. A correlation of these Y chromosome alleles in Native Americans with those of the DYS1 locus, as detected by the p49a/p49f (p49a,f) probes on TaqI-digested genomic DNA, revealed a complete association of DYS1 alleles (p49a,f haplotypes) 13, 18, 66, 67 and 69 with the DYS199 T allele, while DYS1 alleles 8 and 63 were associated with both the DYS199 C and T allele.
我们利用Y染色体多态性对古代男性从西伯利亚迁徙至美洲展开了一项研究。所检测的首个多态性位点是DYS199基因座核苷酸位置181处的C→T转换，此前仅在美洲原住民群体中报道过。为了探究这种DYS199多态性的起源，我们针对此标记及其他标记，对多个西伯利亚、亚洲和美洲原住民群体的Y染色体进行了筛查。此项调查在所有五个被研究的美洲原住民群体中均检测到了T等位基因，平均频率为61%，在九个西伯利亚原住民群体中的两个群体，即西伯利亚爱斯基摩人（21%）和楚科奇人（17%）中也检测到了该等位基因。这一发现表明，DYS199 T等位基因可能起源于白令陆桥，随后被现代美洲原住民主要亚群的奠基人群传播至整个新大陆。我们通过分析另外两个Y染色体多态性位点，即DYS287 Y Alu多态性（YAP）元件插入以及DYS271处与YAP相关的A→G转换，进一步对美洲原住民Y染色体变异进行了特征分析，这两个多态性位点在非洲人中普遍存在。在任何美洲原住民或西伯利亚原住民群体中，我们均未发现与DYS199 T等位基因相关的非洲等位基因。然而，我们确实在一个美洲原住民群体米克斯人和一个亚洲群体藏人中发现了携带DYS199 C等位基因的DYS287 YAP+个体。通过对TaqI酶切基因组DNA上的p49a/p49f（p49a,f）探针检测，美洲原住民中这些Y染色体等位基因与DYS1基因座的等位基因之间的相关性显示，DYS1等位基因（p49a,f单倍型）13、18、66、67和69与DYS199 T等位基因完全相关，而DYS1等位基因8和63与DYS199 C和T等位基因均相关。
