Department of Integrative Cancer Therapy and Urology, Andrology Unit, Kanazawa University Graduate School of Medical Science, Kanazawa, Japan.
J Hum Genet. 2010 Nov;55(11):717-25. doi: 10.1038/jhg.2010.94. Epub 2010 Aug 12.
The male-specific region of Y chromosome (MSY) has accumulated a higher density of human endogenous retroviruses (HERVs) and related sequences when compared with other regions of the human genome. Here, we focused on one HERV family, HERV-K14C that seemed to integrate preferentially into the Y chromosome in humans. To identify every copies of HERV-K14C in the human genome, we applied computational screening to map precisely the locus of individual HERV-K14C copies. Interestingly, 29 of all 146 copies were located in Y chromosome, and these 29 copies were mostly dispersed in the palindromic region. Three distinct HERV-K14C-related transcripts were found and were exclusively expressed in human testis tissue. Based on our phylogenetic analysis of the solitary LTRs derived from HERV-K14C on the Y chromosome we suggested that these sequences were generated as pairs of identical sequences. Specifically, analysis of HERV-K14C-related sequences in the palindromic region demonstrated that the Y chromosomal amplicons existed in our common ancestors and the duplicated pairs arose after divergence of great apes approximately 8-10 million years ago. Taken together, our observation suggested that HERV-K14C-related sequences contributed to genomic diversification of Y chromosome during speciation of great ape lineage.
Y 染色体上的男性特异性区域 (MSY) 与人类基因组的其他区域相比，积累了更高密度的人类内源性逆转录病毒 (HERV) 和相关序列。在这里，我们专注于一个 HERV 家族，HERV-K14C，它似乎优先整合到人类的 Y 染色体中。为了鉴定人类基因组中每个 HERV-K14C 拷贝，我们应用计算筛选来精确绘制单个 HERV-K14C 拷贝的基因座。有趣的是，在 146 个拷贝中，有 29 个位于 Y 染色体上，这些拷贝主要分散在回文区。发现了三种不同的 HERV-K14C 相关转录本，它们仅在人类睾丸组织中表达。基于我们对 Y 染色体上源自 HERV-K14C 的孤立 LTR 的系统发育分析，我们推测这些序列是作为一对相同的序列产生的。具体来说，对回文区 HERV-K14C 相关序列的分析表明，Y 染色体扩增子存在于我们的共同祖先中，并且在大约 800-1000 万年前的大猿分化后产生了重复对。总之，我们的观察表明，HERV-K14C 相关序列在大猿谱系的物种形成过程中促进了 Y 染色体基因组的多样化。
