Origination and evolution of a human-specific transmembrane protein gene, c1orf37-dup
Origination and evolution of a human-specific transmembrane protein gene, c1orf37-dup
复制标题
人类特异性跨膜蛋白基因 c1orf37-dup 的起源和进化
DOI：
10.1093/hmg/ddl109
复制
发表时间：
2006-06-01
影响因子：
3.5
通讯作者：
Wang, Wen
中科院分区：
文献类型：
--
作者：
Yu, Haijing;Jiang, Huifeng;Wang, Wen
跨膜蛋白基因c1orf37-dup被鉴定为人类特有的年轻基因。它是人类和黑猩猩分化后，通过逆转录从保守的c1orf37基因衍生而来的。该基因在达尔文正向选择的驱动下进化迅速，新的c1orf37-DUP基因与亲本c1orf37基因之间的非同义替换率与同义替换率的比率(K-a/K-S=2.08)非常高。群体遗传学分析揭示了c1orf37-DUP基因及其邻近区域的极低水平的多态性，从而为最近的选择性扫描的发生提供了支持。GFP实验表明，它编码一种与细胞膜相关的跨膜蛋白。氨基酸变化的非随机分布表明，C1ORF37-DUP蛋白可能在细胞质和胞外环中可能具有重要功能的N-末端区域进化了不同的功能。这些证据支持c1orf37-DUP在人类中发生了功能适应。与其普遍表达的亲本基因不同，c1orf37-DUP在包括大脑在内的几个人类组织中选择性表达。有人认为c1orf37-DUP编码一种新的人类跨膜蛋白，它可能赋予细胞表面相互作用新的性质。
A transmembrane protein gene, c1orf37-dup, was identified as a young gene specific to humans. It was derived from the conserved c1orf37 gene through retroposition after the divergence of human and chimpanzee. This gene has evolved rapidly driven by positive Darwinian selection as evident from a significantly high ratio of non-synonymous substitution rate to synonymous substitution rate (K-a/K-s=2.08) between the new c1orf37-dup and the parental c1orf37 genes. Population genetics analysis disclosed a very low level of polymorphism in the c1orf37-dup gene and its neighboring regions, thus providing support for the occurrence of a recent selective sweep. The GFP experiments revealed that it encodes a transmembrane protein associated with cell membranes. Non-random distribution of amino acid changes indicates the C1ORF37-DUP protein may have evolved diverged functions in the presumably functionally important N-terminal region in the cytoplasm and the extracellular loop. These lines of evidence support that the functional adaptation of c1orf37-dup has occurred in humans. Unlike its ubiquitously expressed parental gene, c1orf37-dup expresses selectively in several human tissues including brain. It is suggested that c1orf37-dup encodes a novel transmembrane protein in humans which potentially endows new properties to cell surface interactions.