title: Sex chromosome-to-autosome transposition events counter Y-chromosome gene loss in mammals.
abstract: BACKGROUND
  Although the mammalian X and Y chromosomes evolved from a single pair of autosomes, they are highly differentiated: the Y chromosome is dramatically smaller than the X and has lost most of its genes. The surviving genes are a specialized set with extraordinary evolutionary longevity. Most mammalian lineages have experienced delayed, or relatively recent, loss of at least one conserved Y-linked gene. An extreme example of this phenomenon is in the Japanese spiny rat, where the Y chromosome has disappeared altogether. In this species, many Y-linked genes were rescued by transposition to new genomic locations, but until our work presented here, this has been considered an isolated case.
  
  
  RESULTS
  We describe eight cases of genes that have relocated to autosomes in mammalian lineages where the corresponding Y-linked gene has been lost. These gene transpositions originated from either the X or Y chromosomes, and are observed in diverse mammalian lineages: occurring at least once in marsupials, apes, and cattle, and at least twice in rodents and marmoset. For two genes--EIF1AX/Y and RPS4X/Y--transposition to autosomes occurred independently in three distinct lineages.
  
  
  CONCLUSIONS
  Rescue of Y-linked gene loss through transposition to autosomes has previously been reported for a single isolated rodent species. However, our findings indicate that this compensatory mechanism is widespread among mammalian species. Thus, Y-linked gene loss emerges as an additional driver of gene transposition from the sex chromosomes, a phenomenon thought to be driven primarily by meiotic sex chromosome inactivation.
authors.affiliation: Whitehead Institute, Cambridge, MA, 02142, USA. jhughes@wi.mit.edu.
authors.forename: Jennifer F
authors.initials: JF
authors.lastname: Hughes
authors.affiliation: Whitehead Institute, Cambridge, MA, 02142, USA. skaletsky@wi.mit.edu.|Howard Hughes Medical Institute, Whitehead Institute, Cambridge, MA, 02142, USA. skaletsky@wi.mit.edu.
authors.forename: Helen
authors.initials: H
authors.lastname: Skaletsky
authors.affiliation: Whitehead Institute, Cambridge, MA, 02142, USA. koutseva@wi.mit.edu.
authors.forename: Natalia
authors.initials: N
authors.lastname: Koutseva
authors.affiliation: Whitehead Institute, Cambridge, MA, 02142, USA. pyntikova@wi.mit.edu.
authors.forename: Tatyana
authors.initials: T
authors.lastname: Pyntikova
authors.affiliation: Whitehead Institute, Cambridge, MA, 02142, USA. dcpage@wi.mit.edu.|Howard Hughes Medical Institute, Whitehead Institute, Cambridge, MA, 02142, USA. dcpage@wi.mit.edu.|Department of Biology, Massachusetts Institute of Technology, Cambridge, MA, 02142, USA. dcpage@wi.mit.edu.
authors.forename: David C
authors.initials: DC
authors.lastname: Page
mesh_terms: D000818:Animals; D002417:Cattle; D015977:Eukaryotic Initiation Factor-1 / Q000235:genetics / Q000378:metabolism; D017353:Gene Deletion; D023281:Genomics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008322:Mammals / Q000235:genetics*; D051379:Mice; D009893:Opossums; D002679:Pan troglodytes; D010802:Phylogeny; D051381:Rats; D016415:Sequence Alignment; D017423:Sequence Analysis, RNA; D012729:Sex Chromosome Aberrations; D014178:Translocation, Genetic; D044764:Ubiquitin-Activating Enzymes / Q000235:genetics / Q000378:metabolism; D014998:Y Chromosome / Q000235:genetics*
chemical_list: D015977:Eukaryotic Initiation Factor-1; C026022:eukaryotic peptide initiation factor-1A; D044764:Ubiquitin-Activating Enzymes