Sequencing the mouse y chromosome reveals convergent gene acquisition and amplification on both sex chromosomes

Y. Q.Shirleen Soh, Jessica Alföldi, Tatyana Pyntikova, Laura G. Brown, Tina Graves, Patrick J. Minx, Robert S. Fulton, Colin Kremitzki, Natalia Koutseva, Jacob L. Mueller, Steve Rozen, Jennifer F. Hughes, Elaine Owens, James E. Womack, William J. Murphy, Qing Cao, Pieter De Jong, Wesley C. Warren, Richard K. Wilson, Helen SkaletskyDavid C. Page

Research output: Contribution to journalArticlepeer-review

197 Scopus citations


We sequenced the MSY (male-specific region of the Y chromosome) of the C57BL/6J strain of the laboratory mouse Mus musculus. In contrast to theories that Y chromosomes are heterochromatic and gene poor, the mouse MSY is 99.9% euchromatic and contains about 700 protein-coding genes. Only 2%of the MSY derives from the ancestral autosomes that gave rise to the mammalian sex chromosomes. Instead, all but 45 of the MSY's genes belong to three acquired, massively amplified gene families that have no homologs on primate MSYs but do have acquired, amplified homologs on the mouse X chromosome. The complete mouse MSY sequence brings to light dramatic forces in sex chromosome evolution: lineage-specific convergent acquisition and amplification of X-Y gene families, possibly fueled by antagonism between acquired X-Y homologs. The mouse MSY sequence presents opportunities for experimental studies of a sex-specific chromosome in its entirety, in a genetically tractable model organism.

Original languageEnglish
Pages (from-to)800-813
Number of pages14
Issue number4
StatePublished - Nov 6 2014


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