Vincent R Harley

Summary

Affiliation: Monash University
Country: Australia

Publications

  1. pmc Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations
    Vincent R Harley
    Prince Henry s Institute of Medical Research, Melbourne 3168, Victoria, Australia
    Proc Natl Acad Sci U S A 100:7045-50. 2003
  2. ncbi request reprint The molecular action and regulation of the testis-determining factors, SRY (sex-determining region on the Y chromosome) and SOX9 [SRY-related high-mobility group (HMG) box 9]
    Vincent R Harley
    Prince Henry s Institute of Medical Research, Clayton 3168, Victoria, Australia
    Endocr Rev 24:466-87. 2003
  3. doi request reprint Excess DAX1 leads to XY ovotesticular disorder of sex development (DSD) in mice by inhibiting steroidogenic factor-1 (SF1) activation of the testis enhancer of SRY-box-9 (Sox9)
    Louisa M Ludbrook
    Prince Henry s Institute of Medical Research, Melbourne, Victoria 3168, Australia
    Endocrinology 153:1948-58. 2012
  4. doi request reprint Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome
    Stefan Bagheri-Fam
    Molecular Genetics and Development Division, Prince Henry s Institute of Medical Research, Clayton, VIC 3168, Australia
    Hum Mol Genet 20:2213-24. 2011
  5. ncbi request reprint Defective calmodulin-mediated nuclear transport of the sex-determining region of the Y chromosome (SRY) in XY sex reversal
    Helena Sim
    Prince Henry s Institute of Medical Research, Level 4 Block E, Monash Medical Centre, 246 Clayton Road, Clayton, Victoria 3168, Australia
    Mol Endocrinol 19:1884-92. 2005
  6. doi request reprint Inhibition of SRY-calmodulin complex formation induces ectopic expression of ovarian cell markers in developing XY gonads
    Helena Sim
    Molecular Genetics and Development Division, Prince Henry s Institute of Medical Research, Level 4 Block E, Monash Medical Centre, 246 Clayton Road, Clayton, Melbourne, Victoria 3168, Australia
    Endocrinology 152:2883-93. 2011
  7. doi request reprint Wnt signaling in ovarian development inhibits Sf1 activation of Sox9 via the Tesco enhancer
    Pascal Bernard
    Prince Henry s Institute of Medical Research, Monash Medical Centre, P O Box 5152, Clayton, Melbourne 3168, Australia
    Endocrinology 153:901-12. 2012
  8. doi request reprint Sox9 gene regulation and the loss of the XY/XX sex-determining mechanism in the mole vole Ellobius lutescens
    Stefan Bagheri-Fam
    Molecular Genetics and Development Division, Prince Henry s Institute of Medical Research, Clayton, Melbourne, Victoria 3168, Australia
    Chromosome Res 20:191-9. 2012
  9. ncbi request reprint Loss of Fgfr2 leads to partial XY sex reversal
    Stefan Bagheri-Fam
    Human Molecular Genetics Laboratory, Prince Henry s Institute of Medical Research, Monash Medical Centre, Melbourne 3168, Australia
    Dev Biol 314:71-83. 2008
  10. ncbi request reprint A SOX9 defect of calmodulin-dependent nuclear import in campomelic dysplasia/autosomal sex reversal
    Anthony Argentaro
    Human Molecular Genetics Laboratory, Prince Henry s Institute of Medical Research, Level 4 Block E, Monash Medical Centre, 246 Clayton Rd, Clayton, Victoria, 3168, Australia
    J Biol Chem 278:33839-47. 2003

Collaborators

Detail Information

Publications36

  1. pmc Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations
    Vincent R Harley
    Prince Henry s Institute of Medical Research, Melbourne 3168, Victoria, Australia
    Proc Natl Acad Sci U S A 100:7045-50. 2003
    ..This study documents cases of human disease being explained, at a molecular level, by the impaired ability of a protein to accumulate in the nucleus...
  2. ncbi request reprint The molecular action and regulation of the testis-determining factors, SRY (sex-determining region on the Y chromosome) and SOX9 [SRY-related high-mobility group (HMG) box 9]
    Vincent R Harley
    Prince Henry s Institute of Medical Research, Clayton 3168, Victoria, Australia
    Endocr Rev 24:466-87. 2003
    ..Many genes, however, remain unidentified, because in the majority of cases of XY females and in all cases of XX males lacking SRY, the mutated gene is unknown...
  3. doi request reprint Excess DAX1 leads to XY ovotesticular disorder of sex development (DSD) in mice by inhibiting steroidogenic factor-1 (SF1) activation of the testis enhancer of SRY-box-9 (Sox9)
    Louisa M Ludbrook
    Prince Henry s Institute of Medical Research, Melbourne, Victoria 3168, Australia
    Endocrinology 153:1948-58. 2012
    ..In cultured cells, increasing levels of DAX1 antagonized SF1-, SF1/SRY-, and SF1/SOX9-mediated activation of TES, due to reduced binding of SF1 to TES, providing a likely mechanism for DSS...
  4. doi request reprint Defective survival of proliferating Sertoli cells and androgen receptor function in a mouse model of the ATR-X syndrome
    Stefan Bagheri-Fam
    Molecular Genetics and Development Division, Prince Henry s Institute of Medical Research, Clayton, VIC 3168, Australia
    Hum Mol Genet 20:2213-24. 2011
    ....
  5. ncbi request reprint Defective calmodulin-mediated nuclear transport of the sex-determining region of the Y chromosome (SRY) in XY sex reversal
    Helena Sim
    Prince Henry s Institute of Medical Research, Level 4 Block E, Monash Medical Centre, 246 Clayton Road, Clayton, Victoria 3168, Australia
    Mol Endocrinol 19:1884-92. 2005
    ..CaM recognition could underlie XY sex reversal. Given that the CaM-binding region of SRY is well-conserved among high mobility group box proteins, CaM-dependent nuclear import may underlie additional disease states...
  6. doi request reprint Inhibition of SRY-calmodulin complex formation induces ectopic expression of ovarian cell markers in developing XY gonads
    Helena Sim
    Molecular Genetics and Development Division, Prince Henry s Institute of Medical Research, Level 4 Block E, Monash Medical Centre, 246 Clayton Road, Clayton, Melbourne, Victoria 3168, Australia
    Endocrinology 152:2883-93. 2011
    ..These results indicate the importance of CaM for SRY nuclear import, transcriptional activity, testis differentiation, and sex determination...
  7. doi request reprint Wnt signaling in ovarian development inhibits Sf1 activation of Sox9 via the Tesco enhancer
    Pascal Bernard
    Prince Henry s Institute of Medical Research, Monash Medical Centre, P O Box 5152, Clayton, Melbourne 3168, Australia
    Endocrinology 153:901-12. 2012
    ..Our data support a model in ovary development whereby activation of β-catenin prevents Sf1 binding to the Sox9 enhancer, thereby inhibiting Sox9 expression and Sertoli cell differentiation...
  8. doi request reprint Sox9 gene regulation and the loss of the XY/XX sex-determining mechanism in the mole vole Ellobius lutescens
    Stefan Bagheri-Fam
    Molecular Genetics and Development Division, Prince Henry s Institute of Medical Research, Clayton, Melbourne, Victoria 3168, Australia
    Chromosome Res 20:191-9. 2012
    ..E. lutescens/E. tancrei and E. fuscocapillus could have independently stabilized their sex determination mechanisms by Sry-independent and Sry-dependent approaches, respectively...
  9. ncbi request reprint Loss of Fgfr2 leads to partial XY sex reversal
    Stefan Bagheri-Fam
    Human Molecular Genetics Laboratory, Prince Henry s Institute of Medical Research, Monash Medical Centre, Melbourne 3168, Australia
    Dev Biol 314:71-83. 2008
    ..In summary, we provide evidence that FGFR2 is important for male sex determination in mice, thereby rendering human FGFR2 a candidate gene for unsolved DSD cases such as 10q26 deletions...
  10. ncbi request reprint A SOX9 defect of calmodulin-dependent nuclear import in campomelic dysplasia/autosomal sex reversal
    Anthony Argentaro
    Human Molecular Genetics Laboratory, Prince Henry s Institute of Medical Research, Level 4 Block E, Monash Medical Centre, 246 Clayton Rd, Clayton, Victoria, 3168, Australia
    J Biol Chem 278:33839-47. 2003
    ....
  11. ncbi request reprint The molecular action of testis-determining factors SRY and SOX9
    Vincent R Harley
    Prince Henry s Institute of Medical Research, Monash Medical Centre, Melbourne, Vic, Australia
    Novartis Found Symp 244:57-66; discussion 66-7, 79-85, 253-7. 2002
    ..A campomelic dysplasia patient with SOX9 mutation outside the NLS regions also showed defective SOX9 nuclear import implying that nuclear import defects could be a common explanation for SRY and SOX9 HMG domain mutations...
  12. pmc Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations
    Kevin C Knower
    Molecular Genetics and Development, Prince Henry s Institute, Melbourne, Victoria, Australia
    PLoS ONE 6:e17751. 2011
    ..In mice, Sox9 regulation is under the transcriptional control of SRY, SF1 and SOX9 via a conserved testis-specific enhancer of Sox9 (TES). Regulation of SOX9 in human sex determination is however poorly understood...
  13. ncbi request reprint Localization of the chromatin remodelling protein, ATRX in the adult testis
    Paisu Tang
    Prince Henry s Institute of Medical Research, Victoria 3168, Australia
    J Reprod Dev 57:317-21. 2011
    ..The findings suggest that ATRX in humans may play a role in adult spermatogenesis as well as in testicular development...
  14. ncbi request reprint SOX13 exhibits a distinct spatial and temporal expression pattern during chondrogenesis, neurogenesis, and limb development
    Yi Wang
    Human Molecular Genetics Laboratory, Prince Henry s Institute of Medical Research, 246 Clayton Rd, Victoria 3168, Australia
    J Histochem Cytochem 54:1327-33. 2006
    ..SOX13 is also detected in the developing kidney, pancreas, and liver as well as in the visceral mesoderm of the extra-embryonic yolk sac and spongiotrophoblast layer of the placenta...
  15. pmc The human testis-determining factor SRY localizes in midbrain dopamine neurons and regulates multiple components of catecholamine synthesis and metabolism
    Daniel P Czech
    Molecular Genetics and Development Division, Prince Henry s Institute of Medical Research, Monash Medical Centre, Melbourne, Australia Department of Biochemistry and Molecular Biology, Monash University, Melbourne, Australia Florey Neurosciences Institutes, Melbourne, Australia David Geffen School of Medicine, University of California, Los Angeles, CA, U S A
    J Neurochem 122:260-71. 2012
    ..This ancillary genetic mechanism might contribute to gender bias in fight-flight behaviours in men or their increased susceptibility to dopamine disorders, such as Parkinson's disease and schizophrenia...
  16. ncbi request reprint Sex with two SOX on: SRY and SOX9 in testis development
    Michael J Clarkson
    Prince Henry s Institute of Medical Research, PO 5152, Clayton, Victoria 3168, Australia
    Trends Endocrinol Metab 13:106-11. 2002
    ..SRY and SOX9 proteins have been characterized extensively and aspects of their function and regulation are now known...
  17. doi request reprint The rhox homeobox gene family shows sexually dimorphic and dynamic expression during mouse embryonic gonad development
    Hinda Daggag
    Murdoch Children s Research Institute and Department of Pediatrics, University of Melbourne, Royal Children s Hospital, Melbourne, Victoria, Australia
    Biol Reprod 79:468-74. 2008
    ..Our results indicate that the regulation of Rhox gene expression and its potential function during embryogenesis are quite distinct from those previously reported for Rhox gene regulation in postnatal gonads...
  18. ncbi request reprint Biochemical defects in eight SRY missense mutations causing XY gonadal dysgenesis
    Claire L Mitchell
    Howard Florey Institute, and Department of Biochemistry, The University of Melbourne, VIC 3010, Melbourne, Australia
    Mol Genet Metab 77:217-25. 2002
    ..We propose that there is a threshold level of SRY activity or expression required for testis determination, as we observe that familial mutations have the least effect on SRY activity...
  19. doi request reprint Disorders of sex development: new genes, new concepts
    Makoto Ono
    Molecular Genetics and Development Division, Prince Henry s Institute of Medical Research, Monash Medical Centre, Department of Anatomy and Biochemistry, Monash University, Clayton, Melbourne, Vic, Australia
    Nat Rev Endocrinol 9:79-91. 2013
    ..These advances are refining prognostic prediction and systematically improving the diagnosis and long-term management of children with DSDs...
  20. ncbi request reprint Wnt4 action in gonadal development and sex determination
    Pascal Bernard
    Human Molecular Genetics Laboratory, Prince Henry s Institute of Medical Research, PO Box 5152, Clayton, VIC 3168, Australia
    Int J Biochem Cell Biol 39:31-43. 2007
    ..Further identification of critical downstream effectors of the Wnt4 signaling pathway in mouse models and in patients with sex-reversal conditions could help in understanding sex-reversal pathologies in humans...
  21. doi request reprint Boys, girls and shuttling of SRY and SOX9
    Helena Sim
    Human Molecular Genetics Laboratory, Prince Henry s Institute of Medical Research, Level 4 Block E, Monash Medical Centre, 246 Clayton Rd, Clayton, Melbourne, VIC 3168, Australia
    Trends Endocrinol Metab 19:213-22. 2008
    ..SRY and SOX9 mutations in DSD have uncovered regulatory sites for sumoylation, ubiquitination, acetylation and phosphorylation, many of which are essential for their transport and sex determining functions...
  22. doi request reprint Acquisition of SOX transcription factor specificity through protein-protein interaction, modulation of Wnt signalling and post-translational modification
    Pascal Bernard
    Prince Henry s Institute of Medical Research, Monash Medical Centre, PO Box 5152, Clayton, Melbourne, VIC 3168, Australia
    Int J Biochem Cell Biol 42:400-10. 2010
    ..Here we review extensively the SOX protein interactions with partner co-factors, the ability of SOX proteins to modulate Wnt signalling and the effect of post-translational modification of SOX proteins on their function...
  23. ncbi request reprint SOX13 is up-regulated in the developing mouse neuroepithelium and identifies a sub-population of differentiating neurons
    Yi Wang
    Human Molecular Genetics Laboratory, Prince Henry s Institute of Medical Research, 246 Clayton Road, Clayton, VIC 3168, Australia
    Brain Res Dev Brain Res 157:201-8. 2005
    ..Our data suggest a role for SOX13 in the specification and/or differentiation of a specific subset of neurons in the developing central nervous system...
  24. pmc Wnt4 inhibits beta-catenin/TCF signalling by redirecting beta-catenin to the cell membrane
    Pascal Bernard
    Human Molecular Genetics Laboratory, Prince Henry s Institute of Medical Research, Monash Medical Centre, PO Box 5152, Clayton 3168, Vic, Australia
    Biol Cell 100:167-77. 2008
    ..Less well understood are mechanisms of Wnt signalling that do not involve beta-catenin stabilization and result in inhibition of beta-catenin-mediated transcription...
  25. pmc Androgen receptor repeat length polymorphism associated with male-to-female transsexualism
    Lauren Hare
    Human Molecular Genetics Laboratory, Prince Henry s Institute of Medical Research, Melbourne, Australia
    Biol Psychiatry 65:93-6. 2009
    ..Specifically, we assessed the role of disease-associated repeat length polymorphisms in the androgen receptor (AR), estrogen receptor beta (ERbeta), and aromatase (CYP19) genes...
  26. doi request reprint The male fight-flight response: a result of SRY regulation of catecholamines?
    Joohyung Lee
    Brain and Gender, Prince Henry s Institute of Medical Research, Monash Medical Centre, Melbourne, Australia
    Bioessays 34:454-7. 2012
    ..The SRY gene, which is located on the Y chromosome and directs male development, may promote aggression and other traditionally male behavioural traits, resulting in the fight-or-flight reaction to stress...
  27. ncbi request reprint Dimerization of SOX9 is required for chondrogenesis, but not for sex determination
    Pascal Bernard
    UCLA Department of Human Genetics, Gonda Center, Room 6357, 695 Charles Young Drive South, Los Angeles, CA 90095 7088, USA
    Hum Mol Genet 12:1755-65. 2003
    ..These results establish that SOX9 cooperative dimerization is required for chondrogenesis but not for sex determination and may explain why campomelic dysplasia need not be associated with XY sex reversal...
  28. ncbi request reprint Comparative analysis of ATRX, a chromatin remodeling protein
    Daniel J Park
    Department of Zoology, The University of Melbourne, Gate 12 Royal Parade, Melbourne 3010, Australia
    Gene 339:39-48. 2004
    ..Alignment of vertebrate ATRX sequences highlights other conserved elements, including a negatively charged mammalian sequence which we propose to be involved in binding of positively charged histone tails...
  29. ncbi request reprint Characterisation of the marsupial-specific ATRY gene: implications for the evolution of male-specific function
    Daniel J Park
    Department of Zoology, The University of Melbourne, Melbourne VIC 3010, Australia
    Gene 362:29-36. 2005
    ..The conservation and loss of particular motifs identify those required for testicular function (ATRY) and function in other tissues (ATRX)...
  30. ncbi request reprint A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female
    Pascal Bernard
    Department of Human Genetics, David Geffen School of Medicine at the University of California, Los Angeles, CA 90095 7088, USA
    Mol Genet Metab 88:272-9. 2006
    ..In vitro assays demonstrate that the C200W mutant retains the ability to functionally interact with SF1, which suggests that SF1-independent interactions of DAX1 could be responsible for the import defect...
  31. pmc Paraspeckle protein p54nrb links Sox9-mediated transcription with RNA processing during chondrogenesis in mice
    Kenji Hata
    Department of Molecular and Cellular Biochemistry, Osaka University Graduate School of Dentistry, Suita, Osaka, Japan
    J Clin Invest 118:3098-108. 2008
    ..These data suggest that p54nrb plays an important role in the regulation of Sox9 function and the formation of paraspeckle bodies during chondrogenesis...
  32. ncbi request reprint Direct regulation of adult brain function by the male-specific factor SRY
    Phoebe Dewing
    Department of Human Genetics, University of California, Los Angeles, Los Angles, California 90095, USA
    Curr Biol 16:415-20. 2006
    ..These results demonstrate a direct male-specific effect on the brain by a gene encoded only in the male genome, without any mediation by gonadal hormones...
  33. ncbi request reprint ATRX and sex differentiation
    Paisu Tang
    Department of Zoology, The University of Melbourne, Victoria 3010, Australia
    Trends Endocrinol Metab 15:339-44. 2004
    ..We review what is known about ATRX as a chromatin remodeling protein, and its role in mammalian sex differentiation...
  34. ncbi request reprint Sex determination: a 'window' of DAX1 activity
    Louisa M Ludbrook
    Prince Henry s Institute of Medical Research, PO Box 5152, Clayton, VIC 3168, Australia
    Trends Endocrinol Metab 15:116-21. 2004
    ..Therefore, perhaps DAX1/Dax1 acts within a 'window' of activity, outside of which testis formation does not occur. Here, we discuss the function and possible mechanisms of DAX1 action in male gonadogenesis...
  35. ncbi request reprint We used to call them hermaphrodites
    Eric Vilain
    Department of Human Genetics, University of California Los Angeles School of Medicine, Los Angeles, California 90095 7088, USA
    Genet Med 9:65-6. 2007
  36. ncbi request reprint Sex-specific expression of a novel gene Tmem184a during mouse testis differentiation
    Terje Svingen
    Institute for Molecular Bioscience, The University of Queensland, Brisbane, Queensland, Australia
    Reproduction 133:983-9. 2007
    ..Tmem184a expression is further shown to be expressed exclusively within the Sertoli cells of the developing testis cords, suggesting that it may mediate sex-specific signaling events during Sertoli cell differentiation...