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Nature. 2014 Apr 24;508(7497):488-93. doi: 10.1038/nature13151.

Origins and functional evolution of Y chromosomes across mammals.

Author information

1
1] Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland [2] Swiss Institute of Bioinformatics, 1015 Lausanne, Switzerland.
2
The Robinson Research Institute, School of Molecular and Biomedical Science, University of Adelaide, Adelaide, South Australia 5005, Australia.
3
Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland.
4
School of Biotechnology and Biomolecular Sciences, UNSW Australia, Sydney, New South Wales 2052, Australia.

Abstract

Y chromosomes underlie sex determination in mammals, but their repeat-rich nature has hampered sequencing and associated evolutionary studies. Here we trace Y evolution across 15 representative mammals on the basis of high-throughput genome and transcriptome sequencing. We uncover three independent sex chromosome originations in mammals and birds (the outgroup). The original placental and marsupial (therian) Y, containing the sex-determining gene SRY, emerged in the therian ancestor approximately 180 million years ago, in parallel with the first of five monotreme Y chromosomes, carrying the probable sex-determining gene AMH. The avian W chromosome arose approximately 140 million years ago in the bird ancestor. The small Y/W gene repertoires, enriched in regulatory functions, were rapidly defined following stratification (recombination arrest) and erosion events and have remained considerably stable. Despite expression decreases in therians, Y/W genes show notable conservation of proto-sex chromosome expression patterns, although various Y genes evolved testis-specificities through differential regulatory decay. Thus, although some genes evolved novel functions through spatial/temporal expression shifts, most Y genes probably endured, at least initially, because of dosage constraints.

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PMID:
24759410
DOI:
10.1038/nature13151
[Indexed for MEDLINE]
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