Reproduction, Fertility and Development Reproduction, Fertility and Development Society
Vertebrate reproductive science and technology
RESEARCH ARTICLE

Characterisation of ATRX, DMRT1, DMRT7 and WT1 in the platypus (Ornithorhynchus anatinus)

Enkhjargal Tsend-Ayush A , Shu Ly Lim A , Andrew J. Pask B C , Diana Demiyah Mohd Hamdan A , Marilyn B. Renfree B and Frank Grützner A D
+ Author Affiliations
- Author Affiliations

A Discipline of Genetics, School of Molecular and Biomedical Science, University of Adelaide, Adelaide, SA 5005, Australia.

B Department of Zoology, The University of Melbourne, Melbourne, Vic. 3010, Australia.

C Present address: Department of Molecular and Cellular Biology, The University of Connecticut, Storrs, CT 06269, USA.

D Corresponding author. Email: frank.grutzner@adelaide.edu.au

Reproduction, Fertility and Development 21(8) 985-991 https://doi.org/10.1071/RD09090
Submitted: 9 April 2009  Accepted: 28 August 2009   Published: 30 October 2009

Abstract

One of the most puzzling aspects of monotreme reproductive biology is how they determine sex in the absence of the SRY gene that triggers testis development in most other mammals. Although monotremes share a XX female/XY male sex chromosome system with other mammals, their sex chromosomes show homology to the chicken Z chromosome, including the DMRT1 gene, which is a dosage-dependent sex determination gene in birds. In addition, monotremes feature an extraordinary multiple sex chromosome system. However, no sex determination gene has been identified as yet on any of the five X or five Y chromosomes and there is very little knowledge about the conservation and function of other known genes in the monotreme sex determination and differentiation pathway. We have analysed the expression pattern of four evolutionarily conserved genes that are important at different stages of sexual development in therian mammals. DMRT1 is a conserved sex-determination gene that is upregulated in the male developing gonad in vertebrates, while DMRT7 is a mammal-specific spermatogenesis gene. ATRX, a chromatin remodelling protein, lies on the therian X but there is a testis-expressed Y-copy in marsupials. However, in monotremes, the ATRX orthologue is autosomal. WT1 is an evolutionarily conserved gene essential for early gonadal formation in both sexes and later in testis development. We show that these four genes in the adult platypus have the same expression pattern as in other mammals, suggesting that they have a conserved role in sexual development independent of genomic location.

Additional keywords: ovary, sex chromosomes, sex determination, sexual differentiation, testis.


Acknowledgements

We thank Drs Vivene Bardwell and David Zarkower for generously providing the DMRT1 antibody, Dan Kortschak for helpful discussions and Tasman Daish for valuable comments on the manuscript. This work was supported by grants from the Australian Research Council (DP0664267 and DP0449984); F.G. is an ARC Australian Research Fellow and E.T.-A. is an ARC Postdoctoral Fellow. D.D.M.H. is supported by a postgraduate scholarship of the Ministry of Higher Education and the University of Malaya. A.J.P. was supported by a National Health and Medical Council R.D. Wright Fellowship, and M.B.R. by an Australian Research Council Federation Fellowship.


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