X染色体不活化可能解释了XO人类和小鼠生存能力的差异
A Ashworth1, S Rastan, R Lovell-Badge
1Chester Beatty Laboratories, Institute of Cancer Research, London, UK.
Nature
|May 30, 1991
概括
由于基因剂量问题,患有特纳综合征的人类XO概念动物很少具有生存能力. 活跃的XO小鼠表明特定物种的X染色体失活机制是生存的关键.
科学领域:
- 遗传学 是一个遗传学.
- 发育生物学 发展生物学
- 进行比较基因组学.
背景情况:
- 人类XO概念 (特纳综合征) 呈现出高胚胎死亡率和可变的表型.
- 假设这种致命性源于X和Y染色体基因的单体性,这对剂量补偿至关重要.
- 像ZFX和RPS4X这样的基因与特纳综合征有关,因为它们存在于活跃和非活跃的X染色体上.
研究的目的:
- 为了研究X染色体失活在XO哺乳动物生存能力中的作用.
- 为了比较人类和小鼠之间的基因剂量补偿机制,关于X链基因.
主要方法:
- 开发一种分析小鼠X染色体不活化的系统.
- 在小鼠X染色体中评估Zfx和Rps4X无活化模式.
主要成果:
- 在小鼠中,Zfx和Rps4X都经历了正常的X失活.
- 观察到XO小鼠是可行的,肥沃的,和解剖学上正常的,与人类的XO致命性形成鲜明对比.
结论:
- 对于关键的X链基因,实现剂量补偿的特定物种差异可能解释了XO小鼠的生存能力与人类XO概念的致命性.
- 在哺乳动物的发育和生存中,X失活机制起着至关重要的作用,具有显著的物种间变异.
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Around 300 million years ago, the two sex chromosomes diverged from two identical autosomal chromosomes. Over time, the Y chromosome has lost most of its genes, shrinking in size. Today,...
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The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
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