title: The candidate sex-reversing DAX1 gene is autosomal in marsupials: implications for the evolution of sex determination in mammals.
abstract: The human X-linked DAX1 gene was cloned from the region of the short arm of the human X found in duplicate in sex-reversed Xdup Y females (E. Zanaria et al., 1994, Nature 372: 635-641). DAX1 is suggested to be required for ovarian differentiation and to play an important role in mammalian sex determination or differentiation pathways. Its proposed dose-dependent effect on sexual development suggests that DAX1 could represent an evolutionary link with an ancestral sex-determining mechanism that depended on the dosage of an X-linked gene. Furthermore, DAX1 could also represent the putative X-linked switch gene, which independently controls sexual dimorphisms in marsupial mammals in an X-dose-dependent manner (D.W. Cooper et al., 1993, Semin. Dev. 4: 117-128). If DAX1 has a present role in marsupial sexual differentiation or had an ancestral role in mammalian sex determination, it would be expected to lie on the marsupial X chromosome, despite the autosomal localization of other human Xp genes. We therefore cloned and mapped the DAX1 gene in the tammar wallaby (Macropus eugenii). DAX1 was located on wallaby chromosome 5p near other human Xp genes, indicating that it was originally autosomal and that it is not involved in X-linked dose-dependent sex determination in an ancestral mammal nor in marsupial sexual differentiation.
authors.affiliation: School of Genetics and Human Variation, La Trobe University, Melbourne, Victoria, Australia. apask@genome.latrobe.edu.au
authors.forename: A
authors.initials: A
authors.lastname: Pask
authors.forename: R
authors.initials: R
authors.lastname: Toder
authors.forename: S A
authors.initials: SA
authors.lastname: Wilcox
authors.forename: G
authors.initials: G
authors.lastname: Camerino
authors.forename: J A
authors.initials: JA
authors.lastname: Graves
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D003001:Cloning, Molecular; D017931:DNA Primers / Q000235:genetics; D012734:Disorders of Sex Development; D019143:Evolution, Molecular; D005260:Female; D005796:Genes; D005812:Genes, Switch; D008040:Genetic Linkage; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008322:Mammals; D008394:Marsupialia / Q000235:genetics*; D008969:Molecular Sequence Data; D005810:Multigene Family; D015183:Restriction Mapping; D017386:Sequence Homology, Amino Acid; D012727:Sex Characteristics; D012732:Sex Determination Analysis; D014960:X Chromosome / Q000235:genetics
chemical_list: D017931:DNA Primers