Mammalian y chromosomes retain widely expressed dosage-sensitive regulators

Daniel W. Bellott, Jennifer F. Hughes, Helen Skaletsky, Laura G. Brown, Tatyana Pyntikova, Ting Jan Cho, Natalia Koutseva, Sara Zaghlul, Tina Graves, Susie Rock, Colin Kremitzki, Robert S. Fulton, Shannon Dugan, Yan Ding, Donna Morton, Ziad Khan, Lora Lewis, Christian Buhay, Qiaoyan Wang, Jennifer WattMichael Holder, Sandy Lee, Lynne Nazareth, Steve Rozen, Donna M. Muzny, Wesley C. Warren, Richard A. Gibbs, Richard K. Wilson, David C. Page

Research output: Contribution to journalArticlepeer-review

363 Scopus citations


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.

Original languageEnglish
Pages (from-to)494-499
Number of pages6
Issue number7497
StatePublished - 2014


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