Origins and functional evolution of Y chromosomes across mammals

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...

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Main Authors: Cortez, Diego (Author) , Marin, Ray (Author) , Toledo-Flores, Deborah (Author) , Froidevaux, Laure (Author) , Liechti, Angélica (Author) , Waters, Paul D. (Author) , Grützner, Frank (Author) , Kaessmann, Henrik (Author)
Format: Article (Journal)
Language:English
Published: 23 April 2014
In: Nature
Year: 2014, Volume: 508, Issue: 7497, Pages: 488-493
ISSN:1476-4687
DOI:10.1038/nature13151
Online Access:Verlag, Volltext: http://dx.doi.org/10.1038/nature13151
Verlag, Volltext: https://www.nature.com/articles/nature13151
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Author Notes:Diego Cortez, Ray Marin, Deborah Toledo-Flores, Laure Froidevaux, Angélica Liechti, Paul D. Waters, Frank Grützner & Henrik Kaessmann

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520 |a 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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