Seielstad M T, Minch E, Cavalli-Sforza L L
Program for Population Genetics, Harvard School of Public Health, Boston, Massachusetts 02115, USA.
Nat Genet. 1998 Nov;20(3):278-80. doi: 10.1038/3088.
Mitochondrial DNA and the Y chromosome have been used extensively in the study of modern human origins and other phylogenetic questions, but not in the context of their sex-specific modes of transmission. mtDNA is transmitted exclusively by females, whereas the Y chromosome is passed only among males. As a result, differences in the reproductive output or migration rate of males and females will influence the geographic patterns and relative level of genetic diversity on the Y chromosome, autosomes and mtDNA (ref. 1). We have found that Y chromosome variants tend to be more localized geographically than those of mtDNA and the autosomes. The fraction of variation within human populations for Y chromosome single nucleotide polymorphisms (SNPs) is 35.5%, versus 80-85% for the autosomes and mtDNA (refs 6-8). A higher female than male migration rate (via patrilocality, the tendency for a wife to move into her husband's natal household) explains most of this discrepancy, because diverse Y chromosomes would enter a population at a lower rate than mtDNA or the autosomes. Polygyny may also contribute, but the reduction of variation within populations that we measure for the Y chromosome, relative to the autosomes and mitochondrial DNA, is of such magnitude that differences in the effective population sizes of the sexes alone are insufficient to produce the observation.
线粒体DNA和Y染色体已被广泛应用于现代人类起源及其他系统发育问题的研究,但尚未涉及它们特定性别的遗传模式。线粒体DNA仅通过女性遗传,而Y染色体只在男性之间传递。因此,男性和女性在生殖产出或迁移率上的差异,将影响Y染色体、常染色体和线粒体DNA上的地理分布模式及遗传多样性的相对水平(参考文献1)。我们发现,Y染色体变异在地理上的分布往往比线粒体DNA和常染色体的变异更为局限。人类群体中Y染色体单核苷酸多态性(SNP)的变异比例为35.5%,而常染色体和线粒体DNA的变异比例为80 - 85%(参考文献6 - 8)。女性迁移率高于男性迁移率(通过从夫居,即妻子倾向于搬到丈夫的原生家庭)解释了这种差异的大部分原因,因为不同的Y染色体进入一个群体的速率低于线粒体DNA或常染色体。一夫多妻制也可能有影响,但是相对于常染色体和线粒体DNA,我们所测量的Y染色体在群体内变异的减少幅度如此之大,以至于仅两性有效群体大小的差异不足以产生这样的观察结果。