Engelstädter Jan, Haig David
Department of Organismic and Evolutionary Biology, Harvard University, Cambridge, Massachusetts 02138, USA.
Evolution. 2008 Aug;62(8):2097-104. doi: 10.1111/j.1558-5646.2008.00431.x. Epub 2008 May 27.
In most female mammals, one of the two X chromosomes is inactivated early in embryogenesis. Expression of most genes on this chromosome is shut down, and the inactive state is maintained throughout life in all somatic cells. It is generally believed that X-inactivation evolved as a means of achieving equal gene expression in males and females (dosage compensation). Following degeneration of genes on the Y chromosome, gene expression on X chromosomes in males and females is upregulated. This results in closer to optimal gene expression in males, but deleterious overexpression in females. In response, selection is proposed to favor inactivation of one of the X chromosomes in females, restoring optimal gene expression. Here, we make a first attempt at shedding light on this intricate process from a population genetic perspective, elucidating the sexually antagonistic selective forces involved. We derive conditions for the process to work and analyze evolutionary stability of the system. The implications of our results are discussed in the light of empirical findings and a recently proposed alternative hypothesis for the evolution of X-inactivation.
在大多数雌性哺乳动物中,两条X染色体中的一条在胚胎发育早期就会失活。这条染色体上大多数基因的表达会被关闭,并且这种失活状态在所有体细胞的整个生命过程中都会维持。人们普遍认为,X染色体失活是作为一种在雄性和雌性中实现基因表达平等(剂量补偿)的方式而进化出来的。随着Y染色体上基因的退化,雄性和雌性X染色体上的基因表达会上调。这使得雄性的基因表达更接近最佳状态,但却导致雌性出现有害的过表达。作为回应,有人提出选择会有利于雌性中一条X染色体的失活,从而恢复最佳基因表达。在这里,我们首次尝试从群体遗传学的角度来阐明这一复杂过程,阐明其中涉及的性拮抗选择力。我们推导了该过程起作用的条件,并分析了该系统的进化稳定性。我们根据实证研究结果以及最近提出的关于X染色体失活进化的另一种假说,对我们的结果的意义进行了讨论。