Journal article
Altered SOX9 genital tubercle enhancer region in hypospadias
R Sreenivasan, CT Gordon, S Benko, R de Iongh, S Bagheri-Fam, S Lyonnet, V Harley
Journal of Steroid Biochemistry and Molecular Biology | PERGAMON-ELSEVIER SCIENCE LTD | Published : 2017
Abstract
Human mutations in the SOX9 gene or its regulatory region can disrupt testicular development, leading to disorders of sex development (DSDs). Our previous work involving the genomic analysis of isolated DSD patients revealed a 78 kb minimal sex determining region (RevSex) far upstream of SOX9 that was duplicated in 46,XX and deleted in 46,XY DSDs. It was postulated that RevSex contains a gonadal enhancer. However, the most highly conserved sub-region within RevSex, called SR4, was neither responsive to sex determining factors in vitro nor active in the gonads of transgenic mice, suggesting that SR4 may not be functioning as a testicular enhancer. Interestingly, SR4 transgenic mice showed rep..
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Awarded by National Health and Medical Research Council of Australia (NHMRC) Program
Funding Acknowledgements
We would like to acknowledge Rowena Lavery for technical assistance and Andrew Pask for valuable suggestions. This work was supported by the National Health and Medical Research Council of Australia (NHMRC) Program Grants 334314 and 546517 to V.H., and by the Victorian Government's Operational Infrastructure Support Program (OIS). R.S. was supported by an Australian Postgraduate Award and V.H. by an NHMRC Research Fellowship.