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Nature. 2014 Apr 24;508(7497):494-9. doi: 10.1038/nature13206.

Mammalian Y chromosomes retain widely expressed dosage-sensitive regulators.

Author information

1
Whitehead Institute, Howard Hughes Medical Institute, & Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02142, USA.
2
The Genome Institute, Washington University School of Medicine, St. Louis, Missouri 63108, USA.
3
Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA.

Erratum in

  • Nature. 2014 Oct 2;514(7520):126. Alföldi, Jessica [added].

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

Comment in

PMID:
24759411
PMCID:
PMC4139287
DOI:
10.1038/nature13206
[Indexed for MEDLINE]
Free PMC Article

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