Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators
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Author(s)
Hughes, Jennifer F.
Skaletsky, Helen
Brown, Laura G.
Pyntikova, Tatyana
Cho, Ting-Jan
Koutseva, Natalia
Zaghlul, Sara
Graves, Tina
Rock, Susie
Kremitzki, Colin
Date Issued
April 2014
Journal
Nature
Publisher
Springer Nature
Citation
Bellott, Daniel W. et al. “Mammalian Y Chromosomes Retain Widely Expressed Dosage-Sensitive Regulators.” Nature 508, 7497 (April 2014): 494–499 © 2014 Macmillan Publishers Limited
Version
Author's final manuscript
Abstract
The human X and Y chromosomes evolved from an ordinary pair of autosomes, but millions of years ago genetic decay ravaged the Y chromosome, and only three per cent of its ancestral genes survived. We reconstructed the evolution of the Y chromosome across eight mammals to identify biases in gene content and the selective pressures that preserved the surviving ancestral genes. Our findings indicate that survival was nonrandom, and in two cases, convergent across placental and marsupial mammals. We conclude that the gene content of the Y chromosome became specialized through selection to maintain the ancestral dosage of homologous X-Y gene pairs that function as broadly expressed regulators of transcription, translation and protein stability. We propose that beyond its roles in testis determination and spermatogenesis, the Y chromosome is essential for male viability, and has unappreciated roles in Turner (tm) s syndrome and in phenotypic differences between the sexes in health and disease.
MIT Department
Massachusetts Institute of Technology. Department of Biology
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Article is made available in accordance with the publisher's policy and may be subject to US copyright law. Please refer to the publisher's site for terms of use.
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DOI of Published Version
https://doi.org/10.1038/NATURE13206
