Why chromosome palindromes?

Esther Betrán, Jeffery P Demuth, Anna Williford
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引用次数: 29

Abstract

We look at sex-limited chromosome (Y or W) evolution with particular emphasis on the importance of palindromes. Y chromosome palindromes consist of inverted duplicates that allow for local recombination in an otherwise nonrecombining chromosome. Since palindromes enable intrachromosomal gene conversion that can help eliminate deleterious mutations, they are often highlighted as mechanisms to protect against Y degeneration. However, the adaptive significance of recombination resides in its ability to decouple the evolutionary fates of linked mutations, leading to both a decrease in degeneration rate and an increase in adaptation rate. Our paper emphasizes the latter, that palindromes may exist to accelerate adaptation by increasing the potential targets and fixation rates of incoming beneficial mutations. This hypothesis helps reconcile two enigmatic features of the "palindromes as protectors" view: (1) genes that are not located in palindromes have been retained under purifying selection for tens of millions of years, and (2) under models that only consider deleterious mutations, gene conversion benefits duplicate gene maintenance but not initial fixation. We conclude by looking at ways to test the hypothesis that palindromes enhance the rate of adaptive evolution of Y-linked genes and whether this effect can be extended to palindromes on other chromosomes.

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为什么是染色体回文?
我们着眼于性别限制染色体(Y或W)进化,特别强调回文的重要性。Y染色体回文由反向重复组成,允许在不重组的染色体中进行局部重组。由于回文可以使染色体内基因转化,从而有助于消除有害突变,因此它们通常被强调为防止Y变性的机制。然而,重组的适应性意义在于它能够解耦相关突变的进化命运,从而降低退化率和提高适应率。我们的论文强调后者,回文的存在可能是为了通过增加潜在的目标和进入的有益突变的固定率来加速适应。这一假设有助于调和“回文作为保护器”观点的两个神秘特征:(1)不在回文中的基因在净化选择下保留了数千万年;(2)在只考虑有害突变的模型下,基因转换有利于重复基因的维持,但不利于初始固定。我们通过寻找方法来测试回文提高y连锁基因的适应性进化率的假设,以及这种效应是否可以扩展到其他染色体上的回文。
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