King V, Goodfellow P N, Pearks Wilkerson A J, Johnson W E, O'Brien S J, Pecon-Slattery J
Department of Genetics, University of Cambridge, Cambridge, CB2 3EH, United Kingdom.
Genetics. 2007 Apr;175(4):1855-67. doi: 10.1534/genetics.106.066779. Epub 2007 Feb 4.
In most placental mammals, SRY is a single-copy gene located on the Y chromosome and is the trigger for male sex determination during embryonic development. Here, we present comparative genomic analyses of SRY (705 bp) along with the adjacent noncoding 5' flank (997 bp) and 3' flank (948 bp) in 36 species of the cat family Felidae. Phylogenetic analyses indicate that the noncoding genomic flanks and SRY closely track species divergence. However, several inconsistencies are observed in SRY. Overall, the gene exhibits purifying selection to maintain function (omega = 0.815) yet SRY is under positive selection in two of the eight felid lineages. SRY has low numbers of nucleotide substitutions, yet most encode amino acid changes between species, and four different species have significantly altered SRY due to insertion/deletions. Moreover, fixation of nonsynonymous substitutions between sister taxa is not consistent and may occur rapidly, as in the case of domestic cat, or not at all over long periods of time, as observed within the Panthera lineage. The former resembles positive selection during speciation, and the latter purifying selection to maintain function. Thus, SRY evolution in cats likely reflects the different phylogeographic histories, selection pressures, and patterns of speciation in modern felids.
在大多数胎盘哺乳动物中,SRY是位于Y染色体上的单拷贝基因,是胚胎发育过程中雄性性别决定的触发因素。在此,我们展示了猫科36个物种中SRY(705 bp)及其相邻的非编码5'侧翼(997 bp)和3'侧翼(948 bp)的比较基因组分析。系统发育分析表明,非编码基因组侧翼和SRY与物种分化密切相关。然而,在SRY中观察到了一些不一致之处。总体而言,该基因表现出纯化选择以维持功能(ω = 0.815),但SRY在八个猫科谱系中的两个谱系中受到正选择。SRY的核苷酸替换数量较少,但大多数编码物种间的氨基酸变化,并且四个不同物种由于插入/缺失而使SRY发生了显著改变。此外,姐妹分类群之间非同义替换的固定并不一致,可能会迅速发生,如家猫的情况,或者在很长一段时间内根本不发生,如在豹属谱系中观察到的那样。前者类似于物种形成过程中的正选择,后者是纯化选择以维持功能。因此,猫科动物中SRY的进化可能反映了现代猫科动物不同的系统地理历史、选择压力和物种形成模式。