MBE Advance Access published online on July 21, 2007
Molecular Biology and Evolution, 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 Article |
Inactivation of MOXD2 and S100A15A by Exon Deletion During Human Evolution
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* Laboratory of Molecular Biology, National Cancer Institute
Laboratory of Mammalian Genes and Development, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
Corresponding author: Byungkook Lee, Laboratory of Molecular Biology, 37 Convent Drive, Room 5120A, National Cancer Institute, National Institutes of Health, Bethesda, MD 20892-4264, Tel: 301-496-6580; Fax: 301-480-4654; e-mail: bk{at}nih.gov
Received for publication March 21, 2007. Revision received June 13, 2007. 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 two 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 two 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 since 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
Address after September 1, 2007: Department of Life Science, College of Natural Sciences, Chung-Ang University, Seoul, South Korea
Present address: Center for Development and Differentiation, Korea Research Institute of Bioscience and Biotechnology, Daejeon, South Korea
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