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regional selection acting on the ofd1 gene family地区选择作用于ofd1基因家族
Regional Selection Acting on the OFD1 Gene Family
Ti-Cheng Chang1,2, Jessica L. Klabnik3¤, Wan-Sheng Liu1,2*
1 Department of Dairy and Animal Science, The Center for Reproductive Biology and Health, College of Agricultural Sciences, The Pennsylvania State University, University
Park, Pennsylvania, United States of America, 2 The Integrative Biosciences Program, Bioinformatics and Genomics Option, The Huck Institute of Life Sciences, The
Pennsylvania State University, University Park, Pennsylvania, United States of America, 3 Veterinary and Biomedical Department, College of Agricultural Sciences, The
Pennsylvania State University, University Park, Pennsylvania, United States of America
Abstract
The OFD1 (oral-facial-digital, type 1) gene is implicated in several developmental disorders in humans. The X-linked OFD1
(OFD1X) is conserved in Eutheria. Knowledge about the Y-linked paralog (OFD1Y) is limited. In this study, we identified an
OFD1Y on the bovine Y chromosome, which is expressed differentially from the bovine OFD1X. Phylogenetic analysis
indicated that: a) the eutherian OFD1X and OFD1Y were derived from the pair of ancestral autosomes during sex
chromosome evolution; b) the autosomal OFD1 pseudogenes, present in Catarrhini and Murinae, were derived from
retropositions of OFD1X after the divergence of primates and rodents; and c) the presence of OFD1Y in the ampliconic
region of the primate Y chromosome is an indication that the expansion of the ampliconic region may initiate from the X-
degenerated sequence. In addition, we found that different regions of OFD1/OFD1X/OFD1Y are under differential selection
pressures. The C-terminal half of OFD1 is under relaxed selection with an elevated Ka/Ks ratio and clustered positively
selected sit
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