Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators.

TitleMammalian Y chromosomes retain widely expressed dosage-sensitive regulators.
Publication TypeJournal Article
Year of Publication2014
AuthorsBellott, DW, Hughes, JF, Skaletsky, H, Brown, LG, Pyntikova, T, Cho, T-J, Koutseva, N, Zaghlul, S, Graves, T, Rock, S, Kremitzki, C, Fulton, RS, Dugan, S, Ding, Y, Morton, D, Khan, Z, Lewis, L, Buhay, C, Wang, Q, Watt, J, Holder, M, Lee, S, Nazareth, L, Alföldi, J, Rozen, S, Muzny, DM, Warren, WC, Gibbs, RA, Wilson, RK, Page, DC
Date Published2014 Apr 24
KeywordsAnimals, Chromosomes, Human, X, Chromosomes, Human, Y, Disease, Evolution, Molecular, Female, Gene Dosage, Gene Expression Regulation, Health, Humans, Male, Mammals, Marsupialia, Molecular Sequence Annotation, Molecular Sequence Data, Protein Biosynthesis, Protein Stability, Selection, Genetic, Sequence Homology, Sex Characteristics, Spermatogenesis, Testis, Transcription, Genetic, Turner Syndrome, X Chromosome, Y Chromosome

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's syndrome and in phenotypic differences between the sexes in health and disease.

Alternate JournalNature
PubMed ID24759411
PubMed Central IDPMC4139287
Grant List / HHMI / Howard Hughes Medical Institute / United States
P51 RR013986 / RR / NCRR NIH HHS / United States
U54 HG003079 / HG / NHGRI NIH HHS / United States
U54 HG003273 / HG / NHGRI NIH HHS / United States

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