Prince Henry’s Institute

 

Pascal Bernard

 

Profile

Dr Bernard received his PhD at the University of Lausanne, Switzerland and the University of Burgundy, France in 1999 in the area of transcriptional regulation and pharmacology.

He worked as a Swiss National Science Foundation Fellow and as American Foundation for Urologic Disease Fellow at the Department of Human Genetics at the David Geffen School of Medicine at UCLA, USA, to characterize the role of Wnt signalling during mammalian gonad formation. He also characterised several mutations in sex-determining genes affecting patients with disorders of sex development.

He joined PHI in 2005.

 

Research Interests

Dr Bernard's research focuses on understanding human and mouse early gonadad development. In particular, he aims at identifying new genetic factors involved in DSD using Array Comparative Genomic Hybridization (Array-CGH).

He has a strong interest in understanding how the female-specific Wnt signalling pathway promotes ovarian development and inhibits testicular development in mammals.

 

Expertise

Molecular biology and biochemistry, cell biology, cell culture, genetics and genomics, model organisms, histology and microscopy

 

Current Research

• Discovering new genes causing disorders of sex development

• Wnt/β-catenin, SOX signaling & sex determination

 

Selected Publications

Bagheri-Fam, S., Sim, H., Bernard, P., Jayakody, I., Taketo, M. M., Scherer, G. & Harley, V. R. (2008). Loss of Fgfr2 leads to partial XY sex reversal. Developmental Biology, 314, 71-83.

Bernard, P., Fleming, A., Lacombe, A., Harley, V. R. & Vilain, E. (2008a). Wnt4 inhibits beta-catenin/TCF signalling by redirecting beta-catenin to the cell membrane. Biol Cell, 100, 167-177.

Bernard, P. & Harley, V. R. (2007). Wnt4 action in gonadal development and sex determination. Int J Biochem Cell Biol, 39, 31-43.

Bernard, P., Ludbrook, L., Queipo, G., Dinulos, M. B., Kletter, G. B., Zhang, Y. H., Phelan, J. K., McCabe, E. R., Harley, V. R. & Vilain, E. (2006). A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female. Mol Genet Metab, 88, 272-279.

Bernard, P., Sim, H., Knower, K., Vilain, E. & Harley, V. (2008b). Human SRY inhibits beta-catenin-mediated transcription. Int J Biochem Cell Biol, 40, 2889-2900.

Bernard, P., Tang, P., Liu, S., Dewing, P., Harley, V. R. & Vilain, E. (2003). Dimerization of SOX9 is required for chondrogenesis, but not for sex determination. Human Molecular Genetics, 12, 1755-1765.

Beverdam, A., Svingen, T., Bagheri-Fam, S., Bernard, P., McClive, P., Robson, M., Khojasteh, M. B., Salehi, M., Sinclair, A. H., Harley, V. R. & Koopman, P. (2009). Sox9-dependent expression of Gstm6 in Sertoli cells during testis development in mice. Reproduction, 137, 481-486.

Bradford, S. T., Hiramatsu, R., Maddugoda, M. P., Bernard, P., Chaboissier, M. C., Sinclair, A., Schedl, A., Harley, V., Kanai, Y., Koopman, P. & Wilhelm, D. (2009). The cerebellin 4 precursor gene is a direct target of SRY and SOX9 in mice. Biol Reprod, 80, 1178-1188.

Hare, L., Bernard, P., Sanchez, F. J., Baird, P. N., Vilain, E., Kennedy, T. & Harley, V. R. (2009). Androgen receptor repeat length polymorphism associated with male-to-female transsexualism. Biol Psychiatry, 65, 93-96.

Hersmus, R., de Leeuw, B. H., Stoop, H., Bernard, P., van Doorn, H. C., Bruggenwirth, H. T., Drop, S. L., Oosterhuis, J. W., Harley, V. R. & Looijenga, L. H. (2009). A novel SRY missense mutation affecting nuclear import in a 46,XY female patient with bilateral gonadoblastoma. Eur J Hum Genet.

Svingen, T., Beverdam, A., Bernard, P., McClive, P., Harley, V. R., Sinclair, A. H. & Koopman, P. (2007). Sex-specific expression of a novel gene Tmem184a during mouse testis differentiation. Reproduction, 133, 983-989.