Independent specialization of the human and mouse X chromosomes for the male germ line
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Author(s)
Mueller, Jacob L.
Skaletsky, Helen
Brown, Laura G.
Zaghlul, Sara
Rock, Susan
Graves, Tina
Auger, Katherine
Warren, Wesley C.
Wilson, Richard K.
Page, David C
Date Issued
July 2013
Journal
Nature Genetics
Publisher
Nature Publishing Group
Citation
Mueller, Jacob L, Helen Skaletsky, Laura G Brown, Sara Zaghlul, Susan Rock, Tina Graves, Katherine Auger, Wesley C Warren, Richard K Wilson, and David C Page. “Independent Specialization of the Human and Mouse X Chromosomes for the Male Germ Line.” Nature Genetics 45, no. 9 (July 21, 2013): 1083–1087.
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Author's final manuscript
Abstract
We compared the human and mouse X chromosomes to systematically test Ohno's law, which states that the gene content of X chromosomes is conserved across placental mammals. First, we improved the accuracy of the human X-chromosome reference sequence through single-haplotype sequencing of ampliconic regions. The new sequence closed gaps in the reference sequence, corrected previously misassembled regions and identified new palindromic amplicons. Our subsequent analysis led us to conclude that the evolution of human and mouse X chromosomes was bimodal. In accord with Ohno's law, 94–95% of X-linked single-copy genes are shared by humans and mice; most are expressed in both sexes. Notably, most X-ampliconic genes are exceptions to Ohno's law: only 31% of human and 22% of mouse X-ampliconic genes had orthologs in the other species. X-ampliconic genes are expressed predominantly in testicular germ cells, and many were independently acquired since divergence from the common ancestor of humans and mice, specializing portions of their X chromosomes for sperm production.
MIT Department
Massachusetts Institute of Technology. Department of Biology
Whitehead Institute for Biomedical Research
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DOI of Published Version
https://doi.org/10.1038/ng.2705
