PNAS:古代澳大利亚原住民的基因组
澳大利亚格里菲斯大学科研人员报告了一个古代澳大利亚原住民的完整的线粒体基因组。2001年的一项研究报告了来自古代澳大利亚原住民遗骸的线粒体DNA序列，它提出其中一些遗骸不是当代人类世系的一部分。这项研究挑战了所有现代人类来自单一非洲起源的观念。David Lambert及其同事分析了2001年的那项研究审视的来自Willandra湖地区的同一组遗骸中的4个的线粒体DNA。这组作者使用比此前的那项研究使用的技术更先进的第二代dna测序技术。发现其中只有2个标本含有人类DNA。来自已知最古老的澳大利亚人Mungo人的样本含有5种不同的欧洲人的序列，这提示所有这些序列代表了样本污染。这组作者在其余的样本中组装出了两个完整的线粒体基因组，其中一个属于一个澳大利亚人的世系，另一个属于一个欧洲人的世系。这组作者还重新分析了来自2001年的那项研究的另一个样本，结果得到的序列不同于此前发表的序列。这组作者说，这些研究提示，使用先进的测序技术，可以从古代澳大利亚原住民的遗骸中重新获取有意义的遗传信息。
原文链接：
Ancient mtDNA sequences from the First Australians revisited
原文摘要：
The publication in 2001 by Adcock et al. [Adcock GJ, et al. (2001) Proc Natl Acad Sci USA 98(2):537–542] in PNAS reported the recovery of short mtDNA sequences from ancient Australians, including the 42,000-y-old Mungo Man [Willandra Lakes Hominid (WLH3)]. This landmark study in human ancient DNA suggested that an early modern human mitochondrial lineage emerged in Asia and that the theory of modern human origins could no longer be considered solely through the lens of the “Out of Africa” model. To evaluate these claims, we used second generation DNA sequencing and capture methods as well as PCR-based and single-primer extension (SPEX) approaches to reexamine the same four Willandra Lakes and Kow Swamp 8 (KS8) remains studied in the work by Adcock et al. Two of the remains sampled contained no identifiable human DNA (WLH15 and WLH55), whereas the Mungo Man (WLH3) sample contained no Aboriginal Australian DNA. KS8 reveals human mitochondrial sequences that differ from the previously inferred sequence. Instead, we recover a total of five modern European contaminants from Mungo Man (WLH3). We show that the remaining sample (WLH4) contains ∼1.4% human DNA, from which we assembled two complete mitochondrial genomes. One of these was a previously unidentified Aboriginal Australian haplotype belonging to haplogroup S2 that we sequenced to a high coverage. The other was a contaminating modern European mitochondrial haplotype. Although none of the sequences that we recovered matched those reported by Adcock et al., except a contaminant, these findings show the feasibility of obtaining important information from ancient Aboriginal Australian remains.
作者：Tim H. Heupink
