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Human Molecular Genetics Advance Access published online on April 27, 2006
Human Molecular Genetics, doi:10.1093/hmg/ddl109
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© The Author 2006. Published by Oxford University Press. All rights reserved
Received January 26, 2006
Revised April 14, 2006
Accepted April 14, 2006

Article

Origination and evolution of a human-specific transmembrane protein gene, c1orf37-dup

Haijing Yu 1, Huifeng Jiang 2, Qi Zhou 2, Jufen Yang 3, Yina Cun 3, Bing Su 4, Chunjie Xiao 3, and Wen Wang 5 *

1 Key Laboratory of Bioresources Conservation and Utilization and Human Genetics Center of Yunnan University, Kunming 650091, China PR; CAS-Max Planck Junior Research Group and Key Laboratory of Cellular and Molecular Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China PR
2 CAS-Max Planck Junior Research Group and Key Laboratory of Cellular and Molecular Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China PR; Graduate School of Chinese Academy Sciences, Beijing 100039, China PR
3 Key Laboratory of Bioresources Conservation and Utilization and Human Genetics Center of Yunnan University, Kunming 650091, China PR
4 CAS-Max Planck Junior Research Group and Key Laboratory of Cellular and Molecular Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223, China PR; Kunming Primate Research Center, Chinese Academy of Sciences, Kunming 650223, China PR
5 CAS-Max Planck Junior Research Group and Key Laboratory of Cellular and Molecular Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, #32 E. Jiao Chang Road, Kunming 650223, China PR; Kunming Primate Research Center, Chinese Academy of Sciences, Kunming 650223, China PR

* To whom correspondence should be addressed.
Wen Wang, E-mail: wwang{at}mail.kiz.ac.cn


  Abstract

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 nonsynonymous substitution rate to synonymous substitution rate (Ka/Ks = 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. Nonrandom 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 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.


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