title: X;Y translocation revealed by chromosome microdissection and FISH in fertile XY females in the Brazilian rodent Akodon montensis.
abstract: In a Brazilian population of the neotropical rodent Akodon montensis we found five sex-reversed XY females. These animals were cytogenetically analyzed by chromosome painting using species-specific DNA probes from the Y chromosome, generated by chromosomal microdissection and subsequent use of the degenerate oligonucleotide-primed polymerase chain reaction (DOP-PCR). The results showed a chromosome complement with an apparently normal Y chromosome and an X chromosome carrying a translocation that encompasses a large portion of the Y chromosome (seemingly the entire Y). Ovarian histology suggested that these females are fertile. Amplification of the SRY HMG box sequence by PCR shows that at least one copy of the Sry gene is present in the A. montensis XY females. Based on our findings, we suggest that the breakpoint of the X;Y translocation probably altered an X-linked sex-determining locus (or loci), blocking testicular organogenesis in the XY females. Further studies are necessary to determine the precise location and role of this putative sex-determining chromosomal region. Genetic mechanisms of XY sex reversal in A. montensis populations are discussed.
authors.affiliation: Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, Brazil. vfagunde@usp.br
authors.forename: V
authors.initials: V
authors.lastname: Fagundes
authors.forename: A U
authors.initials: AU
authors.lastname: Christoff
authors.forename: J
authors.initials: J
authors.lastname: Scalzi-Martin
authors.forename: J
authors.initials: J
authors.lastname: Hozier
authors.forename: C A
authors.initials: CA
authors.lastname: Moreira-Filho
authors.forename: Y
authors.initials: Y
authors.lastname: Yonenaga-Yassuda
mesh_terms: D020816:Amino Acid Motifs; D000818:Animals; D001938:Brazil; D002871:Chromosome Banding; D019457:Chromosome Breakage / Q000235:genetics; D020223:Chromosome Painting; D015342:DNA Probes / Q000235:genetics; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics; D004171:Diploidy; D012734:Disorders of Sex Development; D005260:Female; D005298:Fertility / Q000235:genetics*; D018628:Gene Dosage; D006570:Heterochromatin / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009115:Muridae / Q000235:genetics*; D009687:Nuclear Proteins; D010053:Ovary / Q000473:pathology; D016133:Polymerase Chain Reaction; D019849:Sex Determination Processes; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors; D014178:Translocation, Genetic / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics*; D014998:Y Chromosome / Q000235:genetics*
chemical_list: D015342:DNA Probes; D004268:DNA-Binding Proteins; D006570:Heterochromatin; D009687:Nuclear Proteins; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors