Fine mapping of a region of rat chromosome 12 close to the aspermia (as) locus and comparison with the human orthologous regions

Junko Noguchi, Eiji Kobayashi, Kouyou Akiyama, Yasuhiro Kawai, Manabu Ozawa, Katsuhiko Ohnuma, Kazuhiro Kikuchi, Hiroyuki Kaneko, Tetsuo Kunieda

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

The aspermia mutation of the rat exhibits male sterility caused by arrest of spermatogenesis, which is controlled by an autosomal single recessive gene (as). The as locus has been mapped on rat chromosome 12. We recently identified a causative mutation for the aspermia phenotype of the as homozygous rats in the gene encoding Fkbp6, a member of the immunophilins FK506 binding proteins. In this paper, we report the fine mapping of the as locus by linkage analysis combined with comparative mapping using rat, mouse, and human genomic sequences and expression analysis of genes located in the as region. We constructed a fine linkage map of the region of rat chromosome 12 close to the as locus by using 13 microsatellite markers and localized the as locus to a 1.0-cM interval. Comparison of the linkage map with physical maps of rat, mouse, and human refined the as critical region in a 2.2-Mb segment of the rat physical map between the D12Nas3 and D12Nas8 genes, which includes the Fkbp6 gene. A centromeric part of this segment corresponds to the region commonly deleted in Williams syndrome, a human complex developmental disorder, on human chromosome 7q11.23. The expression analysis of 23 genes located on the 2.2-Mb segments in various mouse tissues identified genes exclusively or strongly expressed in the testis.

Original languageEnglish
Pages (from-to)429-435
Number of pages7
JournalExperimental Animals
Volume53
Issue number5
DOIs
Publication statusPublished - Dec 1 2004

Keywords

  • As mutant
  • Fkbp6
  • Linkage mapping
  • Spermatogenesis
  • Williams syndrome

ASJC Scopus subject areas

  • Animal Science and Zoology
  • Biochemistry, Genetics and Molecular Biology(all)
  • veterinary(all)

Fingerprint Dive into the research topics of 'Fine mapping of a region of rat chromosome 12 close to the aspermia (as) locus and comparison with the human orthologous regions'. Together they form a unique fingerprint.

  • Cite this