X染色体揭示的古代人类历史证据。
X chromosome evidence for ancient human histories.
作者信息
Harris E E, Hey J
机构信息
Department of Genetics, Rutgers University, Nelson Biological Labs, 604 Allison Road, Piscataway, NJ 08854-8082, USA.
出版信息
Proc Natl Acad Sci U S A. 1999 Mar 16;96(6):3320-4. doi: 10.1073/pnas.96.6.3320.
Abstract
Diverse African and non-African samples of the X-linked PDHA1 (pyruvate dehydrogenase E1 alpha subunit) locus revealed a fixed DNA sequence difference between the two sample groups. The age of onset of population subdivision appears to be about 200 thousand years ago. This predates the earliest modern human fossils, suggesting the transformation to modern humans occurred in a subdivided population. The base of the PDHA1 gene tree is relatively ancient, with an estimated age of 1.86 million years, a late Pliocene time associated with early species of Homo. PDHA1 revealed very low variation among non-Africans, but in other respects the data are consistent with reports from other X-linked and autosomal haplotype data sets. Like these other genes, but in conflict with microsatellite and mitochondrial data, PDHA1 does not show evidence of human population expansion.
摘要
对X连锁的PDHA1（丙酮酸脱氢酶E1α亚基）基因座的多种非洲和非非洲样本进行研究，发现两个样本组之间存在固定的DNA序列差异。群体分化的起始时间似乎约为20万年前。这早于最早的现代人类化石，表明向现代人类的转变发生在一个已分化的群体中。PDHA1基因树的基部相对古老，估计年龄为186万年，这是一个上新世晚期，与早期人类物种相关。PDHA1在非非洲人中显示出非常低的变异，但在其他方面，数据与其他X连锁和常染色体单倍型数据集的报告一致。与这些其他基因一样，但与微卫星和线粒体数据相矛盾的是，PDHA1没有显示出人类群体扩张的证据。
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本文引用的文献
1
Population genetics and human origins--haplotypes are key!
Trends Genet. 1998 Aug;14(8):303-5. doi: 10.1016/s0168-9525(98)01521-2.
2
Genetic structure of the ancestral population of modern humans.现代人类祖先群体的遗传结构。
J Mol Evol. 1998 Aug;47(2):146-55. doi: 10.1007/pl00006371.
3
Haplotype structure and population genetic inferences from nucleotide-sequence variation in human lipoprotein lipase.基于人类脂蛋白脂肪酶核苷酸序列变异的单倍型结构与群体遗传学推断
Am J Hum Genet. 1998 Aug;63(2):595-612. doi: 10.1086/301977.
4
Signatures of population expansion in microsatellite repeat data.微卫星重复数据中的种群扩张特征。
Genetics. 1998 Apr;148(4):1921-30. doi: 10.1093/genetics/148.4.1921.
5
Heterogeneity of microsatellite mutations within and between loci, and implications for human demographic histories.基因座内部和之间微卫星突变的异质性及其对人类人口历史的影响。
Genetics. 1998 Mar;148(3):1269-84. doi: 10.1093/genetics/148.3.1269.
6
Genetic traces of ancient demography.古代人口统计学的基因痕迹。
Proc Natl Acad Sci U S A. 1998 Feb 17;95(4):1961-7. doi: 10.1073/pnas.95.4.1961.
7
Alu evolution in human populations: using the coalescent to estimate effective population size.人类群体中的Alu进化：利用溯祖理论估计有效种群大小。
Genetics. 1997 Dec;147(4):1977-82. doi: 10.1093/genetics/147.4.1977.
8
Alu insertion polymorphisms and human evolution: evidence for a larger population size in Africa.Alu插入多态性与人类进化：非洲人口规模更大的证据。
Genome Res. 1997 Nov;7(11):1061-71. doi: 10.1101/gr.7.11.1061.
9
Archaic African and Asian lineages in the genetic ancestry of modern humans.现代人类基因谱系中的古老非洲和亚洲世系。
Am J Hum Genet. 1997 Apr;60(4):772-89.
10
Microsatellite diversity and the demographic history of modern humans.微卫星多样性与现代人类的人口历史。
Proc Natl Acad Sci U S A. 1997 Apr 1;94(7):3100-3. doi: 10.1073/pnas.94.7.3100.
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