Origins and functional evolution of Y chromosomes across mammals

Diego Cortez (), Ray Marin, Deborah Toledo-Flores, Laure Froidevaux, Angélica Liechti, Paul D. Waters, Frank Grützner and Henrik Kaessmann ()
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Diego Cortez: Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland
Ray Marin: Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland
Deborah Toledo-Flores: The Robinson Research Institute, School of Molecular and Biomedical Science, University of Adelaide
Laure Froidevaux: Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland
Angélica Liechti: Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland
Paul D. Waters: School of Biotechnology and Biomolecular Sciences, UNSW Australia
Frank Grützner: The Robinson Research Institute, School of Molecular and Biomedical Science, University of Adelaide
Henrik Kaessmann: Center for Integrative Genomics, University of Lausanne, 1015 Lausanne, Switzerland

Nature, 2014, vol. 508, issue 7497, 488-493

Abstract: 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.

Date: 2014
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DOI: 10.1038/nature13151

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