Intracytoplasmic Sperm Injection

Intracytoplasmic Sperm Injection
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胞浆内单精子注射

DOI:
10.1007/978-3-319-70497-5_13
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发表时间:
2018
期刊:
--
影响因子:
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通讯作者:
Griffin D
Griffin D
中科院分区:
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作者:
Griffin D

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人类Y染色体代表了“男性”的标志性形象,Y染色体的突变、缺失或重排经常导致人们去不育诊所就诊。然而,它的进化史也是一个基因丢失、反转和异染色质积累的历史。毫无疑问,Y染色体曾经拥有它的伴侣X染色体的大小和基因密度,因此现在只是它以前的影子。然而,这个问题围绕着我们是否正在观察到Y染色体正在被遗忘,或者它是否已经进化出有效的机制来无限期地抓住生命。目前有两种观点:第一种观点认为,Y形星系已经存在了数亿年,不会消失。有人断言,它可以在没有常规减数分裂交叉的情况下战胜遗传衰退,而且它的大多数基因都显示出进化选择的迹象。沿其长度的回文序列具有接近100%的同一性,确保了自重组。在它的历史中,它至少增加了8种不同的基因,其中一些基因的拷贝数有所增加,而且自从人类和黑猩猩在600万年前分化以来,Y染色体没有丢失任何基因。相反的观点是,Y染色体受制于更高的变异率和低效的选择,并且正在不可逆转地退化。其他哺乳动物的Y染色体经历了特定谱系的退化,在一些啮齿类动物谱系中,如刺鼠和鼹鼠,Y染色体已经完全消失。这种观点认为,人类原来的Y染色体几乎没有留下任何东西,而染色体上增加的部分实际上正在迅速退化。除了进化细胞遗传学家真正感兴趣的现象之外,还有一个有趣的现象是,大众媒体经常把这个故事混为一谈,认为所谓的Y染色体消亡自动意味着男性的消亡。不要害怕,它不会。雄性会留下来,争论的焦点是这条奇怪的染色体。每个人都同意Y已经显著退化,现在已经确定,它已经进化出一些聪明的机制来刹车。普遍的问题是这些刹车到底有多有效。就连专家也无法达成一致意见。2011年国际染色体大会上的一项民意调查显示,总体上男女观点平分,但更多的男性倾向于“Y留下”的模式,而更多的女性则倾向于“Y离开”的模式。
The human Y chromosome represents an iconic image of “maleness,” and mutation, deletion, or rearrangement of the Y often lead to attendance in infertility clinics. Its evolutionary history is however also one of gene loss, inversion, and heterochromatin accumulation. There is little argument that the Y chromosome once had the size and gene density of its partner, the X chromosome, and is thus now only a shadow of its former self. The question however revolves around whether we are observing the Y at a point on its way to oblivion, or whether it has evolved effective mechanisms to cling on to life indefinitely. There are two schools of thought: The first is that the Y has persisted for hundreds of millions of years and is going nowhere. It can, it is asserted, outsmart genetic decay without regular meiotic crossing over, and the majority of its genes show signs of evolutionary selection. Palindromic sequences along its length with near 100% identity ensure self-recombination. During its history, it has added at least eight different genes, some of which have expanded in copy number, and the Y has lost no genes since humans and chimpanzees diverged ~6 million years ago. The counterargument is that the Y chromosome is subject to higher rates of variation and inefficient selection and is degrading irreversibly. The Y chromosome in other mammals has undergone lineage-specific degradation and has already disappeared entirely in some rodent lineages, such as spiny rats and mole voles. The argument goes that there is virtually nothing left of the original human Y and that the added part of the chromosome is in fact degrading rapidly. An interesting aside to what should be really only a phenomenon of interest to evolutionary cytogeneticists is that the story often gets conflated in the popular press to assume that the alleged Y chromosome demise automatically means the demise of males. Fear not, it doesn’t. Males are here to stay, and the argument is about this strange looking chromosome alone. Everyone agrees that the Y has degraded significantly, it is now well established that it has evolved some clever mechanisms to put the brakes on. The prevailing question is how effective those brakes actually are. Even experts can’t agree and a straw poll at the 2011 International Chromosome Conference suggested an even split overall, but with more men favoring the “Y remaining” model and more women the “Y leaving” scenario.
DOI: 10.1016/j.rbmo.2009.12.024
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影响因子: 4
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