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裸露但并非无毛:基于少量基因组序列比较的分子适应性分析的陷阱

Naked but not Hairless: the pitfalls of analyses of molecular adaptation based on few genome sequence comparisons.

作者信息

Delsuc Frédéric, Tilak Marie-Ka

机构信息

Institut des Sciences de l'Evolution, UMR5554, CNRS, IRD, Université de Montpellier, France

Institut des Sciences de l'Evolution, UMR5554, CNRS, IRD, Université de Montpellier, France.

出版信息

Genome Biol Evol. 2015 Feb 20;7(3):768-74. doi: 10.1093/gbe/evv036.

Abstract

The naked mole-rat (Heterocephalus glaber) is the only rodent species that naturally lacks fur. Genome sequencing of this atypical rodent species recently shed light on a number of its morphological and physiological adaptations. More specifically, its hairless phenotype has been traced back to a single amino acid change (C397W) in the hair growth associated (HR) protein (or Hairless). By considering the available species diversity, we show that this specific position is in fact variable across mammals, including in the horse that was misleadingly reported to have the ancestral Cysteine. Moreover, by sequencing the corresponding HR exon in additional rodent species, we demonstrate that the C397W substitution is actually not a peculiarity of the naked mole-rat. Instead, this specific amino acid substitution is present in all hystricognath rodents investigated, which are all fully furred, including the naked mole-rat closest relative, the Damaraland mole-rat (Fukomys damarensis). Overall, we found no statistical correlation between amino acid changes at position 397 of the HR protein and reduced pilosity across the mammalian phylogeny. This demonstrates that this single amino acid change does not explain the naked mole-rat hairless phenotype. Our case study calls for caution before making strong claims regarding the molecular basis of phenotypic adaptation based on the screening of specific amino acid substitutions using only few model species in genome sequence comparisons. It also exposes the more general problem of the dilution of essential information in the supplementary material of genome papers thereby increasing the probability that misleading results will escape the scrutiny of editors, reviewers, and ultimately readers.

摘要

裸鼹鼠(Heterocephalus glaber)是唯一一种天然无毛的啮齿动物。对这种非典型啮齿动物的基因组测序最近揭示了它的一些形态和生理适应性。更具体地说,它的无毛表型可追溯到毛发生长相关(HR)蛋白(或无毛蛋白)中的单个氨基酸变化(C397W)。通过考虑现有的物种多样性,我们发现这个特定位置在哺乳动物中实际上是可变的,包括在被错误报道具有祖先半胱氨酸的马中。此外,通过对其他啮齿动物物种的相应HR外显子进行测序,我们证明C397W替代实际上并不是裸鼹鼠的特有现象。相反,在所研究的所有豪猪亚目啮齿动物中都存在这种特定的氨基酸替代,这些动物都是全身有毛的,包括裸鼹鼠的近亲达马拉兰鼹鼠(Fukomys damarensis)。总体而言,我们发现在HR蛋白第397位的氨基酸变化与整个哺乳动物系统发育中的毛发减少之间没有统计相关性。这表明这种单一的氨基酸变化并不能解释裸鼹鼠的无毛表型。我们的案例研究呼吁在仅使用少数模型物种进行基因组序列比较来筛选特定氨基酸替代以对表型适应的分子基础做出强有力的断言之前要谨慎。它还暴露了基因组论文补充材料中基本信息被稀释的更普遍问题,从而增加了误导性结果逃脱编辑、审稿人以及最终读者审查的可能性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2f36/5322551/c8136a05a25b/evv036f1p.jpg

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