Inactivation of MOXD2 and S100A15A by exon deletion during human evolution.

Bibliographic Collection: 
MOCA Reference, APE
Publication Type: Journal Article
Authors: Hahn, Y.; Jeong, S.; Lee, B.
Year of Publication: 2007
Journal: Mol Biol Evol
Volume: 24
Issue: 10
Pagination: 2203-12
Date Published: 10/2007
Publication Language: eng
ISSN: 0737-4038
Keywords: Animals, Base Sequence, Computational Biology, Evolution, Molecular, Exons, Gorilla gorilla, Humans, Isoenzymes, Membrane Proteins, Mice, Mixed Function Oxygenases, Molecular Sequence Data, Olfactory Mucosa, Pan troglodytes, Phylogeny, Pongo pygmaeus, S100 Proteins, Sequence Analysis, DNA, Sequence Deletion, Skin Physiological Phenomena

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.

DOI: 10.1093/molbev/msm146
Alternate Journal: Mol. Biol. Evol.