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MBE Advance Access originally published online on July 21, 2007
Molecular Biology and Evolution 2007 24(10):2203-2212; doi:10.1093/molbev/msm146
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Published by Oxford University Press 2007.
This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Research Articles

Inactivation of MOXD2 and S100A15A by Exon Deletion during Human Evolution

Yoonsoo Hahn*,1, Sangkyun Jeong{dagger},2 and Byungkook Lee*

* Laboratory of Molecular Biology, National Cancer Institute, National Institutes of Health, Bethesda, MD
{dagger} Laboratory of Mammalian Genes and Development, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD

E-mail: bk{at}nih.gov.

Accepted for publication July 11, 2007.

We devised a bioinformatics method for systematic identification of putative human-specific exon-deletion mutations that occurred after the divergence of human and chimpanzee and experimentally verified 2 of the predicted mutations in MOXD2 and S100A15A genes. MOXD2 gene encodes a monooxygenase that is highly conserved in mammals and is mostly expressed in the olfactory epithelium in mouse. The presence of a deletion of the last 2 exons and a polymorphic nonsense mutation in exon 6 suggests that MOXD2 gene is inactive in humans. S100A15A is a member of the S100 family of calcium-binding proteins, the mouse ortholog of which is expressed during epidermal maturation. Human S100A15A gene is likely to be inactive because the start codon–bearing exon is deleted in human. We propose that modification or inactivation of MOXD2 and S100A15A genes have contributed to the loss of certain smell sense in humans and to the development of human skin.

Key Words: human • chimpanzee • exon deletion • gene inactivation

1 Present address: Department of Life Science, College of Natural Sciences, Chung-Ang University, Seoul, South Korea

2 Present address: Center for Development and Differentiation, Korea Research Institute of Bioscience and Biotechnology, Daejeon, South Korea

Franz Lang, Associate Editor


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