Erlandsson R, Wilson J F, Pääbo S
Max-Planck-Institute for Evolutionary Anthropology, Leipzig, Germany.
Mol Biol Evol. 2000 May;17(5):804-12. doi: 10.1093/oxfordjournals.molbev.a026359.
We sequenced the genomic region containing the human Y-linked zinc finger gene (ZFY). Comparison of ZFY to the related region on the X chromosome (ZFX) and to autosomal sequences reveals a significant accumulation of transposable elements on the sex chromosomes. In addition, five times as many retroviruslike elements (RLEs) are present in the ZFY region as in the ZFX region. Thus, transposable elements accumulate more rapidly on the sex chromosomes, and the insertion of RLEs may occur more frequently in the male than in the female germ line. When the accumulation of substitutions in Alu elements was analyzed, it was found that the Alu elements at the Y-chromosomal locus diverged significantly faster than those at the X-chromosomal locus, whereas the divergence of autosomal Alu elements was intermediate. The male-to-female mutation rate ratio was estimated to be 2.5.
我们对包含人类Y连锁锌指基因（ZFY）的基因组区域进行了测序。将ZFY与X染色体上的相关区域（ZFX）以及常染色体序列进行比较，发现性染色体上转座元件有显著积累。此外，ZFY区域中类逆转录病毒元件（RLE）的数量是ZFX区域的五倍。因此，转座元件在性染色体上积累得更快，并且RLE在雄性生殖系中的插入可能比在雌性生殖系中更频繁。在分析Alu元件中替换的积累情况时，发现Y染色体位点处的Alu元件比X染色体位点处的Alu元件分化得明显更快，而常染色体Alu元件的分化处于中间水平。估计雄性与雌性的突变率之比为2.5。
