Department of Human Genetics, University of Michigan Medical School, Ann Arbor, MI.
Mol Biol Evol. 2020 Jul 1;37(7):1979-1985. doi: 10.1093/molbev/msaa059.
Large (>10 kb), nearly identical (>99% nucleotide identity), palindromic sequences are enriched on mammalian sex chromosomes. Primate Y-palindromes undergo high rates of arm-to-arm gene conversion, a proposed mechanism for maintaining their sequence integrity in the absence of X-Y recombination. It is unclear whether X-palindromes, which can freely recombine in females, undergo arm-to-arm gene conversion and, if so, at what rate. We generated high-quality sequence assemblies of Mus molossinus and M. spretus X-palindromic regions and compared them with orthologous M. musculus X-palindromes. Our evolutionary sequence comparisons find evidence of X-palindrome arm-to-arm gene conversion at rates comparable to autosomal allelic gene conversion rates in mice. Mus X-palindromes also carry more derived than ancestral variants between species, suggesting that their sequence is rapidly diverging. We speculate that in addition to maintaining genes' sequence integrity via sequence homogenization, palindrome arm-to-arm gene conversion may also facilitate rapid sequence divergence.
大片段(>10kb)、高度同源(>99%核苷酸同一性)的回文序列在哺乳动物性染色体上富集。灵长类动物 Y 染色体回文序列经历了很高的臂到臂基因转换率,这是在没有 X-Y 重组的情况下维持其序列完整性的一种拟议机制。目前尚不清楚是否可以在雌性中自由重组的 X 染色体回文序列会经历臂到臂基因转换,如果会,其转换率是多少。我们生成了 Mus molossinus 和 M. spretus X 染色体回文区域的高质量序列组装,并将其与同源的 M. musculus X 染色体回文序列进行了比较。我们的进化序列比较发现,X 染色体回文臂到臂基因转换的速率与小鼠常染色体等位基因转换的速率相当。Mus X 染色体回文序列在物种之间携带更多的衍生变体而不是祖先变体,表明它们的序列正在迅速分化。我们推测,除了通过序列同质化来维持基因的序列完整性之外,回文臂到臂基因转换还可能促进快速的序列分化。