Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes.
Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes.
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DOI：
10.1038/nature10843
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发表时间：
2012-02-22
期刊：
影响因子：
64.8
通讯作者：
Page, David C.
中科院分区：
文献类型：
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作者：
Hughes, Jennifer F.;Skaletsky, Helen;Brown, Laura G.;Pyntikova, Tatyana;Graves, Tina;Fulton, Robert S.;Dugan, Shannon;Ding, Yan;Buhay, Christian J.;Kremitzki, Colin;Wang, Qiaoyan;Shen, Hua;Holder, Michael;Villasana, Donna;Nazareth, Lynne V.;Cree, Andrew;Courtney, Laura;Veizer, Joelle;Kotkiewicz, Holland;Cho, Ting-Jan;Koutseva, Natalia;Rozen, Steve;Muzny, Donna M.;Warren, Wesley C.;Gibbs, Richard A.;Wilson, Richard K.;Page, David C.
人类的X和Y染色体是在过去的2亿到3亿年里从一对普通的常染色体进化而来的。由于遗传衰变，人类MSY（Y染色体的男性特异性区域）仅保留了祖先常染色体基因的3%。这种进化衰退是由一系列的五个“分层”事件驱动的。每个事件都抑制了染色体片段或“层”内的X-Y交换，将该片段并入MSY，并使其基因受到缺乏交换的侵蚀力。这些事件中的最后一次发生在3000万年前（mya），或者说在人类和旧世界猴（OWM）谱系分化之前的500万年。尽管关于人类Y染色体正在衰退和即将灭绝的猜测很多，但对于在人类谱系从OWM谱系分离后的2500万年中有多少MSY基因在人类谱系中丢失，人们知之甚少。为了探索这个问题，我们对恒河猴（一种OWM）的MSY进行了测序，并将其与人类MSY进行了比较。我们发现，在过去的2500万年里，人类谱系中MSY基因的丢失仅限于最年轻的阶层（阶层5），这包括人类MSY的3%。在共同构成人类MSY的大部分的较老的地层中，基因丢失明显地停止了超过2500万年。同样，恒河猴MSY在过去的2500万年里没有丢失任何旧的基因（从层1-4），尽管与人类MSY有重大的结构差异。恒河猴MSY更简单，几乎没有扩增的基因家族或回文，可能使染色体内重组和修复。我们提出了人类MSY进化的经验重建，其中每个阶层通过纯化选择从祖先基因的快速，指数损失过渡到严格的保护。
The human X and Y chromosomes evolved from an ordinary pair of autosomes during the past 200–300 million years. Due to genetic decay, the human MSY (male-specific region of Y chromosome) retains only three percent of the ancestral autosomes’ genes. This evolutionary decay was driven by a series of five “stratification” events. Each event suppressed X-Y crossing over within a chromosome segment or “stratum”, incorporated that segment into the MSY, and subjected its genes to the erosive forces that attend the absence of crossing over. The last of these events occurred 30 million years ago (mya), or 5 million years before the human and Old World monkey (OWM) lineages diverged. Although speculation abounds regarding ongoing decay and looming extinction of the human Y chromosome, remarkably little is known about how many MSY genes were lost in the human lineage in the 25 million years that have followed its separation from the OWM lineage. To explore this question, we sequenced the MSY of the rhesus macaque, an OWM, and compared it to the human MSY. We discovered that, during the last 25 million years, MSY gene loss in the human lineage was limited to the youngest stratum (stratum 5), which comprises three percent of the human MSY. Within the older strata, which collectively comprise the bulk of the human MSY, gene loss evidently ceased more than 25 mya. Likewise, the rhesus MSY has not lost any older genes (from strata 1–4) during the past 25 million years, despite major structural differences from the human MSY. The rhesus MSY is simpler, with few amplified gene families or palindromes that might enable intrachromosomal recombination and repair. We present an empirical reconstruction of human MSY evolution in which each stratum transitioned from rapid, exponential loss of ancestral genes to strict conservation through purifying selection.
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影响因子：
9.8
作者：
Rozen, Steve;Marszalek, Janet D.;Page, David C.
通讯作者：
Page, David C.
DOI：
10.1098/rstb.2000.0717
发表时间：
2000-11-29
影响因子：
6.3
作者：
Charlesworth, B;Charlesworth, D
通讯作者：
Charlesworth, D
DOI：
10.1101/sqb.1987.052.01.094
发表时间：
1987-01-01
期刊：
COLD SPRING HARBOR SYMPOSIA ON QUANTITATIVE BIOLOGY
影响因子：
--
作者：
MIYATA, T;HAYASHIDA, H;YASUNAGA, T
通讯作者：
YASUNAGA, T
影响因子：
64.8
作者：
HARCOURT, AH;HARVEY, PH;SHORT, RV
通讯作者：
SHORT, RV
影响因子：
56.9
作者：
Gibbs, Richard A.;Rogers, Jeffrey;Zwieg, Ann S.
通讯作者：
Zwieg, Ann S.