title: Sexual development in marsupials: genetic characterization of bandicoot siblings with scrotal and testicular maldevelopment.
abstract: In marsupials testis determination requires the presence of a Y chromosome. The sex determining region on the Y gene (SRY) is necessary for testicular development in eutherians and it is assumed to play a similar role in marsupials. Relatively few studies have investigated the genetic basis of sexual development, and as yet there is no direct evidence that SRY is required for testis development in marsupials. Studies on intersexual marsupials have revealed a fundamental difference between marsupial and eutherian sex determination. The scrotum of marsupials is analogous, not homologous, to the eutherian scrotum and is under the control of X-linked genes not androgens. The current study describes two bandicoot (Isoodon macrourus) siblings. Both siblings had underdeveloped male reproductive tracts and testicular dysgenesis, one was ascrotal and the other had a diminutive scrotum. Their karyotypes were normal for this species which eliminates the Y chromosome from some somatic tissues. SRY was detected by Southern blotting. SRY, ubiquitin activating enzyme-1 on the Y (UBE1Y) and glucose 6-phosphate dehydrogenase (G6PD) gene expression were examined. UBE1Y was widely expressed in many tissues. SRY gene expression was much lower than normal in the abnormal siblings and may be responsible for their failure of testicular and epididymal development. The cause of their scrotal abnormalities is unknown. It is possible that the separate defects of scrotal and testis development in the two siblings, which had normal relatives, were due to a mutation in a gene common to both developmental pathways.
authors.affiliation: Department of Biological Sciences, Division of Environmental and Life Sciences, Macquarie University, N.S.W., Australia.
authors.forename: C M
authors.initials: CM
authors.lastname: Watson
authors.forename: R L
authors.initials: RL
authors.lastname: Hughes
authors.forename: D W
authors.initials: DW
authors.lastname: Cooper
authors.forename: R T
authors.initials: RT
authors.lastname: Gemmell
authors.forename: D A
authors.initials: DA
authors.lastname: Loebel
authors.forename: P G
authors.initials: PG
authors.lastname: Johnston
mesh_terms: D000818:Animals; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D015870:Gene Expression; D006059:Gonadal Dysgenesis / Q000235:genetics / Q000473:pathology / Q000662:veterinary*; D007621:Karyotyping; D008297:Male; D008394:Marsupialia / Q000235:genetics* / Q000254:growth & development*; D009154:Mutation; D009687:Nuclear Proteins; D010641:Phenotype; D012611:Scrotum / Q000002:abnormalities*; D019849:Sex Determination Processes; D012733:Sex Differentiation; D051876:Sex-Determining Region Y Protein; D013737:Testis / Q000002:abnormalities*; D014157:Transcription Factors
chemical_list: D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors