title: Initiation of recombination suppression and PAR formation during the early stages of neo-sex chromosome differentiation in the Okinawa spiny rat, Tokudaia muenninki.
abstract: BACKGROUND
  Sex chromosomes of extant eutherian species are too ancient to reveal the process that initiated sex-chromosome differentiation. By contrast, the neo-sex chromosomes generated by sex-autosome fusions of recent origin in Tokudaia muenninki are expected to be evolutionarily 'young', and therefore provide a good model in which to elucidate the early phases of eutherian sex chromosome evolution. Here we describe the genomic evolution of T. muenninki in neo-sex chromosome differentiation.
  
  
  RESULTS
  FISH mapping of a T. muenninki male, using 50 BAC clones as probes, revealed no chromosomal rearrangements between the neo-sex chromosomes. Substitution-direction analysis disclosed that sequence evolution toward GC-richness, which positively correlates with recombination activity, occurred in the peritelomeric regions, but not middle regions of the neo-sex chromosomes. In contrast, the sequence evolution toward AT-richness was observed in those pericentromeric regions. Furthermore, we showed genetic differentiation between the pericentromeric regions as well as an accelerated rate of evolution in the neo-Y region through the detection of male-specific substitutions by gene sequencing in multiple males and females, and each neo-sex-derived BAC sequencing.
  
  
  CONCLUSIONS
  Our results suggest that recombination has been suppressed in the pericentromeric region of neo-sex chromosomes without chromosome rearrangement, whereas high levels of recombination activity is limited in the peritelomeric region of almost undifferentiated neo-sex chromosomes. We conclude that PAR might have been formed on the peritelomeric region of sex chromosomes as an independent event from spread of recombination suppression during the early stages of sex chromosome differentiation.
authors.affiliation: Department of Human Genetics, Institute of Health Biosciences, Tokushima University Graduate School, 3-18-15, Kuramoto-cho, Tokushima, Japan. murata.chie@tokushima-u.ac.jp.
authors.forename: Chie
authors.initials: C
authors.lastname: Murata
authors.affiliation: RIKEN, Center for Integrative Medical Sciences, 1-7-22 Suehiro-cho, Tsurumi, Yokohama, Kanagawa, Japan. kuroki@megabank.tohoku.ac.jp.|Present address: Division of Pediatric Disease Genomics, Department of Genome Medicine, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, Japan. kuroki@megabank.tohoku.ac.jp.
authors.forename: Yoko
authors.initials: Y
authors.lastname: Kuroki
authors.affiliation: Department of Human Genetics, Institute of Health Biosciences, Tokushima University Graduate School, 3-18-15, Kuramoto-cho, Tokushima, Japan. issehgen@tokushima-u.ac.jp.
authors.forename: Issei
authors.initials: I
authors.lastname: Imoto
authors.affiliation: Student Laboratory, Faculty of Medicine, Tokushima University, 3-18-15, Kuramoto-cho, Tokushima, Japan. C201001048@tokushima-u.ac.jp.
authors.forename: Masaru
authors.initials: M
authors.lastname: Tsukahara
authors.affiliation: Student Laboratory, Faculty of Medicine, Tokushima University, 3-18-15, Kuramoto-cho, Tokushima, Japan. c201001096@tokushima-u.ac.jp.
authors.forename: Naoto
authors.initials: N
authors.lastname: Ikejiri
authors.affiliation: Laboratory of Animal Cytogenetics, Faculty of Science, Hokkaido University, Kita 10 Nishi 8, Kita-ku, Sapporo, Hokkaido, Japan. asatok@sci.hokudai.ac.jp.
authors.forename: Asato
authors.initials: A
authors.lastname: Kuroiwa
mesh_terms: D000818:Animals; D001482:Base Composition; D002503:Centromere; D033481:Chromosomes, Mammalian; D019143:Evolution, Molecular; D005260:Female; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D051189:Murinae / Q000235:genetics*; D011995:Recombination, Genetic; D026801:Synteny; D016615:Telomere; D014960:X Chromosome; D014998:Y Chromosome