UCLA Neuroscience Program Ph.D. Admissions Neuroscience Faculty UCLA and Beyond  



Eric Vilain
Genetics of Mammalian Sexual Development

Work Email Address:  evilain@ucla.edu
Home Page: http://faculty.neuroscience.ucla.edu/institution/personnel?personnel_id=9435 Home Page: http://www.uclahealth.org/EricVilain

Laboratory Address:
Gonda 6335
Office Address:
200 UCLA Medical Plaza
Work Address:
BOX 957088, 6357A Gonda Cntr


Phone Numbers:
310-794-5446 Fax
Phone Numbers:
310-267-2456 Laboratory
Phone Numbers:
310-267-2455 Office
Phone Numbers:
(310) 206-6581


Selected Publications:

Li Y, Vilain E, Conte F, Rajpert-De Meyts E, Lau YF Testis-specific protein Y-encoded gene is expressed in early and late stages of gonadoblastoma and testicular carcinoma in situ. Urol Oncol 2007; 25: 141-6: .
Nikolova G, Sinsheimer J, Vilain E Region on mouse chromosome 11 provides protection from sex reversal in a C57BL/6JYpos Congenic Strain. Genetics 2008; 179: 419-427: .
Kerkel K, Spadola A, Yuan E, Kosek J, Jiang L, Hod E, Li K, Murty VV, Vilain E, Morris M, Haghighi F, Tycko B Genome-wide surveys by MSNP show allele-specific DNA methylation tracking with single-nucleotide polymorphisms. Nature Genetics 2008; 40: 904-908: .
Miousse ER, Watkins D, Lavallee J, Coelho D, Clarke JTR, Crombez E, Vilain E, Cederbaum S, Berstein J, Cowan T, Enns BM, Fowler B, Rosenblatt D Clinical and genetic findings in patients with the cblD inborn error of cobalamin metabolism. J Pediatrics 2008; in press: .
Hare, L., Bernard, P., Sanchez, F. J., Vilain, E., Kennedy, T., & Harley, V. Androgen receptor (AR) repeat length polymorphism associated with male-to-female transsexualism. Biological Psychiatry. 2009; 65: 93-96: .
Hennekam Raoul C M, Allanson Judith E, Biesecker Leslie G, Carey John C, Opitz John M, Vilain Eric Elements of morphology: Standard terminology for the external genitalia. American journal of medical genetics. Part A. 2013; 161(6): 1238-63.
Sánchez Francisco J, Martínez-Patiño María José, Vilain Eric The new policy on hyperandrogenism in elite female athletes is not about "sex testing". Journal of sex research. 2013; 50(2): 112-5.
Sánchez Francisco J, Bocklandt Sven, Vilain Eric The relationship between help-seeking attitudes and masculine norms among monozygotic male twins discordant for sexual orientation. Health psychology : official journal of the Division of Health Psychology, American Psychological Association. 2013; 32(1): 52-6.
Sánchez Francisco J, Vilain Eric "Straight-acting gays": the relationship between masculine consciousness, anti-effeminacy, and negative gay identity. Archives of sexual behavior. 2012; 41(1): 111-9.
Fleming Alice, Ghahramani Negar, Zhu Maggie Xiaoming, Délot Emmanuèle C, Vilain Eric Membrane β-catenin and adherens junctions in early gonadal patterning. Developmental dynamics : an official publication of the American Association of Anatomists. 2012; 241(11): 1782-98.
Arboleda Valerie A, Lee Hane, Parnaik Rahul, Fleming Alice, Banerjee Abhik, Ferraz-de-Souza Bruno, Délot Emmanuèle C, Rodriguez-Fernandez Imilce A, Braslavsky Debora, Bergadá Ignacio, Dell'angelica Esteban C, Nelson Stanley F, Martinez-Agosto Julian A, Achermann John C, Vilain Eric Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nature genetics. 2012; .
Vilain Eric, Sánchez Francisco J Reproductive endocrinology: Athletes' bodies, sexed bodies--intersexuality in athletics. Nature reviews. Endocrinology. 2012; 8(4): 198-9.
Czech Daniel P, Lee Joohyung, Sim Helena, Parish Clare L, Vilain Eric, Harley Vincent R The human testis-determining factor SRY localizes in midbrain dopamine neurons and regulates multiple components of catecholamine synthesis and metabolism. Journal of neurochemistry. 2012; .
White Stefan, Ohnesorg Thomas, Notini Amanda, Roeszler Kelly, Hewitt Jacqueline, Daggag Hinda, Smith Craig, Turbitt Erin, Gustin Sonja, van den Bergen Jocelyn, Miles Denise, Western Patrick, Arboleda Valerie, Schumacher Valerie, Gordon Lavinia, Bell Katrina, Bengtsson Henrik, Speed Terry, Hutson John, Warne Garry, Harley Vincent, Koopman Peter, Vilain Eric, Sinclair Andrew Copy number variation in patients with disorders of sex development due to 46,XY gonadal dysgenesis. PloS one. 2011; 6(3): e17793.
Bocklandt Sven, Lin Wen, Sehl Mary E, Sánchez Francisco J, Sinsheimer Janet S, Horvath Steve, Vilain Eric Epigenetic predictor of age. PloS one. 2011; 6(6): e14821.
Sutton Edwina, Hughes James, White Stefan, Sekido Ryohei, Tan Jacqueline, Arboleda Valerie, Rogers Nicholas, Knower Kevin, Rowley Lynn, Eyre Helen, Rizzoti Karine, McAninch Dale, Goncalves Joao, Slee Jennie, Turbitt Erin, Bruno Damien, Bengtsson Henrik, Harley Vincent, Vilain Eric, Sinclair Andrew, Lovell-Badge Robin, Thomas Paul Identification of SOX3 as an XX male sex reversal gene in mice and humans. The Journal of clinical investigation. 2011; 121(1): 328-41.
Sánchez Francisco J, Liu William Ming, Leathers Leslie, Goins Joyce, Vilain Eric The Subjective Experience of Social Class and Upward Mobility Among African American Men in Graduate School. Psychology of men & masculinity. 2011; 12(4): 368-382.
Arboleda Valerie A, Vilain Eric The evolution of the search for novel genes in mammalian sex determination: from mice to men. Molecular genetics and metabolism. 2011; 104(1-2): 67-71.
Vilain Eric The genetics of ovotesticular disorders of sex development. Advances in experimental medicine and biology. 2011; 707(1): 105-6.
Ngun Tuck C, Ghahramani Negar, Sánchez Francisco J, Bocklandt Sven, Vilain Eric The genetics of sex differences in brain and behavior. Frontiers in neuroendocrinology. 2011; 32(2): 227-46.
Lambert Sarah M, Vilain Eric J N, Kolon Thomas F A practical approach to ambiguous genitalia in the newborn period. The Urologic clinics of North America. 2010; 37(2): 195-205.
Sánchez Francisco J, Vilain Eric Genes and brain sex differences. Progress in brain research. 2010; 186(2): 65-76.
Sánchez Francisco J, Westefeld John S, Liu William Ming, Vilain Eric Masculine Gender Role Conflict and Negative Feelings about Being Gay. Professional psychology, research and practice. 2010; 41(2): 104-111.
Hare Lauren, Bernard Pascal, Sánchez Francisco J, Baird Paul N, Vilain Eric, Kennedy Trudy, Harley Vincent R Androgen receptor repeat length polymorphism associated with male-to-female transsexualism. Biological psychiatry. 2009; 65(1): 93-6.
Miousse Isabelle R, Watkins David, Coelho David, Rupar Tony, Crombez Eric A, Vilain Eric, Bernstein Jonathan A, Cowan Tina, Lee-Messer Christopher, Enns Gregory M, Fowler Brian, Rosenblatt David S Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism. The Journal of pediatrics. 2009; 154(4): 551-6.
Sánchez Francisco J, Vilain Eric Collective Self-Esteem as a Coping Resource for Male-to-Female Transsexuals. Journal of counseling psychology. 2009; 56(1): 202-209.
Sanchez Fráncisco J, Bocklandt Sven, Vilain Eric Gender Role Conflict, Interest in Casual Sex, and Relationship Satisfaction Among Gay Men. Psychology of men & masculinity. 2009; 10(3): 237-243.
Luders Eileen, Sánchez Francisco J, Gaser Christian, Toga Arthur W, Narr Katherine L, Hamilton Liberty S, Vilain Eric Regional gray matter variation in male-to-female transsexualism. NeuroImage. 2009; 46(4): 904-7.
Sánchez Francisco J, Greenberg Stefanie T, Liu William Ming, Vilain Eric Reported Effects of Masculine Ideals on Gay Men. Psychology of men & masculinity. 2009; 10(1): 73-87.
Ching Saunders, Vilain Eric Targeted disruption of Sonic Hedgehog in the mouse adrenal leads to adrenocortical hypoplasia. Genesis (New York, N.Y. : 2000). 2009; 47(9): 628-37.
Kerkel Kristi, Spadola Alexandra, Yuan Eric, Kosek Jolanta, Jiang Le, Hod Eldad, Li Kerry, Murty Vundavalli V, Schupf Nicole, Vilain Eric, Morris Mitzi, Haghighi Fatemeh, Tycko Benjamin Genomic surveys by methylation-sensitive SNP analysis identify sequence-dependent allele-specific DNA methylation. Nature genetics. 2008; 40(7): 904-8.
Bernard Pascal, Sim Helena, Knower Kevin, Vilain Eric, Harley Vincent Human SRY inhibits beta-catenin-mediated transcription. The international journal of biochemistry & cell biology. 2008; 40(12): 2889-900.
Roselli Charles E, Bocklandt Sven, Stadelman Henry L, Wadsworth Teri, Vilain Eric, Stormshak Fred Prolactin expression in the sheep brain. Neuroendocrinology. 2008; 87(4): 206-15.
Li Yunmin, Vilain Eric, Conte Felix, Rajpert-De Meyts Ewa, Lau Yun-Fai Chris Testis-specific protein Y-encoded gene is expressed in early and late stages of gonadoblastoma and testicular carcinoma in situ. Urologic oncology. 2008; 25(2): 141-6.
Nikolova Ganka, Sinsheimer Janet S, Eicher Eva M, Vilain Eric The chromosome 11 region from strain 129 provides protection from sex reversal in XYPOS mice. Genetics. 2008; 179(1): 419-27.
Bernard Pascal, Fleming Alice, Lacombe Arnaud, Harley Vincent R, Vilain Eric Wnt4 inhibits beta-catenin/TCF signalling by redirecting beta-catenin to the cell membrane. Biology of the cell / under the auspices of the European Cell Biology Organization. 2008; 100(3): 167-77.
Lacombe Arnaud, Lelievre Vincent, Roselli Charles E, Muller Jean-Marc, Waschek James A, Vilain Eric Lack of vasoactive intestinal peptide reduces testosterone levels and reproductive aging in mouse testis. The Journal of endocrinology. 2007; 194(1): 153-60.
Nikolova Ganka, Lee Hane, Berkovitz Suzanne, Nelson Stanley, Sinsheimer Janet, Vilain Eric, Rodríguez Larissa V Sequence variant in the laminin gamma1 (LAMC1) gene associated with familial pelvic organ prolapse. Human genetics. 2007; 120(6): 847-56.
Bocklandt Sven, Vilain Eric Sex differences in brain and behavior: hormones versus genes. Advances in genetics. 2007; 59(6): 245-66.
Vilain Eric, Achermann John C, Eugster Erica A, Harley Vincent R, Morel Yves, Wilson Jean D, Hiort Olaf We used to call them hermaphrodites. Genetics in medicine : official journal of the American College of Medical Genetics. 2007; 9(2): 65-6.
Bernard Pascal, Ludbrook Louisa, Queipo Gloria, Dinulos Mary-Beth, Kletter Gad B, Zhang Yao-Hua, Phelan James K, McCabe Edward R B, Harley Vincent R, Vilain Eric A familial missense mutation in the hinge region of DAX1 associated with late-onset AHC in a prepubertal female. Molecular genetics and metabolism. 2006; 88(3): 272-9.
Lacombe Arnaud, Lelievre Vincent, Roselli Charles E, Salameh Wael, Lue Yan-he, Lawson Gregory, Muller Jean-Marc, Waschek James A, Vilain Eric Delayed testicular aging in pituitary adenylate cyclase-activating peptide (PACAP) null mice. Proceedings of the National Academy of Sciences of the United States of America. 2006; 103(10): 3793-8.
Dewing Phoebe, Chiang Charleston W K, Sinchak Kevin, Sim Helena, Fernagut Pierre-Olivier, Kelly Sabine, Chesselet Marie-Francoise, Micevych Paul E, Albrecht Kenneth H, Harley Vincent R, Vilain Eric Direct regulation of adult brain function by the male-specific factor SRY. Current biology : CB. 2006; 16(4): 415-20.
Lacombe Arnaud, Lee Hane, Zahed Laila, Choucair Mahmoud, Muller Jean-Marc, Nelson Stanley F, Salameh Wael, Vilain Eric Disruption of POF1B binding to nonmuscle actin filaments is associated with premature ovarian failure. American journal of human genetics. 2006; 79(1): 113-9.
Bocklandt Sven, Horvath Steve, Vilain Eric, Hamer Dean H Extreme skewing of X chromosome inactivation in mothers of homosexual men. Human genetics. 2006; 118(6): 691-4.
Jack Gregory S, Nikolova Ganka, Vilain Eric, Raz Shlomo, Rodríguez Larissa V Familial transmission of genitovaginal prolapse. International urogynecology journal and pelvic floor dysfunction. 2006; 17(5): 498-501.
Hutz Janna E, Krause Andrea S, Achermann John C, Vilain Eric, Tauber Maïthé, Lecointre Claudine, McCabe Edward R B, Hammer Gary D, Keegan Catherine E IMAGe association and congenital adrenal hypoplasia: no disease-causing mutations found in the ACD gene. Molecular genetics and metabolism. 2006; 88(1): 66-70.
Nikolova Ganka, Vilain Eric Mechanisms of disease: Transcription factors in sex determination--relevance to human disorders of sex development. Nature clinical practice. Endocrinology & metabolism. 2006; 2(4): 231-8.
Lacombe Arnaud, Lelièvre Vincent, Roselli Charles E, Salameh Wael, Lue Yan-He, Lawson Gregory, Muller Jean-Marc, Waschek James A, Vilain Eric [A neuropeptide at the origin of testicular aging?]. Médecine sciences : M/S. 2006; 22(10): 809-11.
Jack, G. S. Nikolova, G. Vilain, E. Raz, S. Rodriguez, L. V. Familial tranmission of genitovaginal prolapse. Int Urogynecol J Pelvic Floor Dysfunct. 2005; 1-4.
Fleming, A. Vilain, E. The endless quest for sex determination genes. Clin Genet. 2005; 67(1): 15-25.
Vilain Eric Dead chromosome walking. Pediatric research. 2004; 55(4): 539-40.
Keegan Catherine E, Vilain Eric, Mohammed Mansoor, Lehoczky Jessica, Dobyns William B, Archer Steven M, Innis Jeffrey W Microcephaly, jejunal atresia, aberrant right bronchus, ocular anomalies, and XY sex reversal. American journal of medical genetics. Part A. 2004; 125A(3): 293-8.
Domenice, S. Correa, R. V. Costa, E. M. Nishi, M. Y. Vilain, E. Arnhold, I. J. Mendonca, B. B. Mutations in the SRY, DAX1, SF1 and WNT4 genes in Brazilian sex-reversed patients. Braz J Med Biol Res. 2004; 37(1): 145-50.
Bernard Pascal, Tang Paisu, Liu Siyuan, Dewing Phoebe, Harley Vincent R, Vilain Eric Dimerization of SOX9 is required for chondrogenesis, but not for sex determination. Human molecular genetics. 2003; 12(14): 1755-65.
Dewing Phoebe, Shi Tao, Horvath Steve, Vilain Eric Sexually dimorphic gene expression in mouse brain precedes gonadal differentiation. Brain research. Molecular brain research. 2003; 118(1-2): 82-90.
Jordan Brian K, Shen Jennifer H-C, Olaso Robert, Ingraham Holly A, Vilain Eric Wnt4 overexpression disrupts normal testicular vasculature and inhibits testosterone synthesis by repressing steroidogenic factor 1/beta-catenin synergy. Proceedings of the National Academy of Sciences of the United States of America. 2003; 100(19): 10866-71.
Shalitin, S. Josefsberg, Z. Vilain, E. Shomrat, R. Weintrob, N. Adrenal hypoplasia congenita with multiple pituitary hormone deficiency without documented mutation in DAX1 or SF1 gene. Mol Genet Metab. 2002; 76(2): 157-61.
Vilain Eric Anomalies of human sexual development: clinical aspects and genetic analysis. Novartis Foundation symposium. 2002; 244(3): 43-53; discussion 53-6, 79-85, 253-7.
Cederbaum Stephen D, Koo-McCoy Samantha, Tein Ingrid, Hsu Betty Y L, Ganguly Arupa, Vilain Eric, Dipple Katrina, Cvitanovic-Sojat Ljerka, Stanley Charles Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency. Molecular genetics and metabolism. 2002; 77(3): 195-201.
Dewing Phoebe, Bernard Pascal, Vilain Eric Disorders of gonadal development. Seminars in reproductive medicine. 2002; 20(3): 189-98.
Jordan Brian K, Jain Manas, Natarajan Sathima, Frasier S Douglas, Vilain Eric Familial mutation in the testis-determining gene SRY shared by an XY female and her normal father. The Journal of clinical endocrinology and metabolism. 2002; 87(7): 3428-32.
Jordan Brian K, Vilain Eric Sry and the genetics of sex determination. Advances in experimental medicine and biology. 2002; 511(7): 1-13; discussion 13-4.
Patel, M. Dorman, K. S. Zhang, Y. H. Huang, B. L. Arnold, A. P. Sinsheimer, J. S. Vilain, E. McCabe, E. R. Primate DAX1, SRY, and SOX9: evolutionary stratification of sex-determination pathway. Am J Hum Genet. 2001; 68(1): 275-80.
Jordan, B. K. Mohammed, M. Ching, S. T. Delot, E. Chen, X. N. Dewing, P. Swain, A. Rao, P. N. Elejalde, B. R. Vilain, E. Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans. Am J Hum Genet. 2001; 68(5): 1102-9.
Zhang, Y. Dipple, K. M. Vilain, E. Huang, B. L. Finlayson, G. Therrell, B. L. Worley, K. Deininger, P. McCabe, E. R. AluY insertion (IVS4-52ins316alu) in the glycerol kinase gene from an individual with benign glycerol kinase deficiency. Hum Mutat. 2000; 15(4): 316-23.
Cederbaum, S. Vilain, E. Defects in energy metabolism: coming of age, slowly. J Pediatr. 2000; 136(2): 147-8.
Vilain, E. Genetics of sexual development. Annu Rev Sex Res. 2000; 11: 1-25.
Dewing, P. Ching, S. T. Zhang, Y. H. Huang, B. L. Peirce, R. M. McCabe, E. R. Vilain, E. Midkine is expressed early in rat fetal adrenal development. Mol Genet Metab. 2000; 71(4): 616-22.
Vilain, E. Le Merrer, M. Lecointre, C. Desangles, F. Kay, M. A. Maroteaux, P. McCabe, E. R. IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. J Clin Endocrinol Metab. 1999; 84(12): 4335-40.
Cederbaum, S. Vilain, E. Newborn screening for inborn errors of metabolism is going to expand: are we ready?. J Pediatr. 1999; 134(6): 666-7.
Vilain, E. CYPs, SNPs, and molecular diagnosis in the postgenomic era. Clin Chem. 1998; 44(12): 2403-4.
Zhang, Y. H. Guo, W. Wagner, R. L. Huang, B. L. McCabe, L. Vilain, E. Burris, T. P. Anyane-Yeboa, K. Burghes, A. H. Chitayat, D. Chudley, A. E. Genel, M. Gertner, J. M. Klingensmith, G. J. Levine, S. N. Nakamoto, J. New, M. I. Pagon, R. A. Pappas, J. G. Quigley, C. A. Rosenthal, I. M. Baxter, J. D. Fletterick, R. J. McCabe, E. R. DAX1 mutations map to putative structural domains in a deduced three-dimensional model. Am J Hum Genet. 1998; 62(4): 855-64.
Vilain, E. McCabe, E. R. Mammalian sex determination: from gonads to brain. Mol Genet Metab. 1998; 65(2): 74-84.
Vilain, E. Guo, W. Zhang, Y. H. McCabe, E. R. DAX1 gene expression upregulated by steroidogenic factor 1 in an adrenocortical carcinoma cell line. Biochem Mol Med. 1997; 61(1): 1-8.
McElreavey, K. Vilain, E. Barbaux, S. Fuqua, J. S. Fechner, P. Y. Souleyreau, N. Doco-Fenzy, M. Gabriel, R. Quereux, C. Fellous, M. Berkovitz, G. D. Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination. Proc Natl Acad Sci U S A. 1996; 93(16): 8590-4.
Barbaux, S. Vilain, E. Raoul, O. Gilgenkrantz, S. Jeandidier, E. Chadenas, D. Souleyreau, N. Fellous, M. McElreavey, K. Proximal deletions of the long arm of the Y chromosome suggest a critical region associated with a specific subset of characteristic Turner stigmata. Hum Mol Genet. 1995; 4(9): 1565-8.
Tar, A. Solyom, J. Gyorvari, B. Ion, A. Telvi, L. Barbaux, S. Souleyreau, N. Vilain, E. Fellous, M. McElreavey, K. Testicular development in an SRY-negative 46,XX individual harboring a distal Xp deletion. Hum Genet. 1995; 96(4): 464-8.
Desangles, F. Vilain, E. Arborio, M. De Revel, T. Flandrin, G. t(15;17) hypergranular acute promyelocytic leukemia (M3) developing into a t(3;6) M3 without t(15;17) at relapse. Leuk Lymphoma. 1995; 19(1-2): 185-8.
Boucekkine, C. Toublanc, J. E. Abbas, N. Chaabouni, S. Ouahid, S. Semrouni, M. Jaubert, F. Toublanc, M. McElreavey, K. Vilain, E. et al., Clinical and anatomical spectrum in XX sex reversed patients. Relationship to the presence of Y specific DNA-sequences. Clin Endocrinol (Oxf). 1994; 40(6): 733-42.
Pierga, J. Y. Giacchetti, S. Vilain, E. Extra, J. M. Brice, P. Espie, M. Maragi, J. A. Fellous, M. Marty, M. Dysgerminoma in a pure 45,X Turner syndrome: report of a case and review of the literature. Gynecol Oncol. 1994; 55(3 Pt 1): 459-64.
Vilain, E. Le Fiblec, B. Morichon-Delvallez, N. Brauner, R. Dommergues, M. Dumez, Y. Jaubert, F. Boucekkine, C. McElreavey, K. Vekemans, M. et al., SRY-negative XX fetus with complete male phenotype. Lancet. 1994; 343(8891): 240-1.
Vilain, E. Bompard, Y. Clement, K. Laplanche, S. de Kermadec, S. Aufrant, C. [Brief antiseptic application of iodine in neonatal intensive care units: effects on thyroid function]. Arch Pediatr. 1994; 1(9): 795-800.
Boucekkine, C. Vilain, E. McElreavey, K. Jaubert, F. Brauner, R. Thibaud, E. Battin, J. Toublanc, J. E. Kucheria, K. Chaabouni, S. et al., [Study of sex determination gene (SRY) in 46,XY gonadal dysgenesis]. Ann Endocrinol (Paris). 1994; 54(5): 315-21.
McElreavey, K. Vilain, E. Abbas, N. Herskowitz, I. Fellous, M. A regulatory cascade hypothesis for mammalian sex determination: SRY represses a negative regulator of male development. Proc Natl Acad Sci U S A. 1993; 90(8): 3368-72.
McElreavey, K. Vilain, E. Cotinot, C. Payen, E. Fellous, M. Control of sex determination in animals. Eur J Biochem. 1993; 218(3): 769-83.
Abbas, N. McElreavey, K. Leconiat, M. Vilain, E. Jaubert, F. Berger, R. Nihoul-Fekete, C. Rappaport, R. Fellous, M. Familial case of 46,XX male and 46,XX true hermaphrodite associated with a paternal-derived SRY-bearing X chromosome. C R Acad Sci III. 1993; 316(4): 375-83.
Toublanc, J. E. Boucekkine, C. Abbas, N. Barama, D. Vilain, E. McElreavey, K. Toublanc, M. Fellous, M. Hormonal and molecular genetic findings in 46,XX subjects with sexual ambiguity and testicular differentiation. Eur J Pediatr. 1993; 152 Suppl 2: S70-5.
Vilain, E. Jaubert, F. Fellous, M. McElreavey, K. Pathology of 46,XY pure gonadal dysgenesis: absence of testis differentiation associated with mutations in the testis-determining factor. Differentiation. 1993; 52(2): 151-9.
McElreavey, K. Rappaport, R. Vilain, E. Abbas, N. Richaud, F. Lortat-Jacob, S. Berger, R. Le Coniat, M. Boucekkine, C. Kucheria, K. et al., A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY. Hum Genet. 1992; 90(1-2): 121-5.
Vilain, E. McElreavey, K. Jaubert, F. Raymond, J. P. Richaud, F. Fellous, M. Familial case with sequence variant in the testis-determining region associated with two sex phenotypes. Am J Hum Genet. 1992; 50(5): 1008-11.
Boucekkine, C. Toublanc, J. E. Abbas, N. Semrouni, M. Vilain, E. McElreavey, K. Mugneret, F. Fellous, M. The sole presence of the testis-determining region of the Y chromosome (SRY) in 46,XX patients is associated with phenotypic variability. Horm Res. 1992; 37(6): 236-40.
McElreavy, K. Vilain, E. Abbas, N. Costa, J. M. Souleyreau, N. Kucheria, K. Boucekkine, C. Thibaud, E. Brauner, R. Flamant, F. et al., XY sex reversal associated with a deletion 5' to the SRY "HMG box" in the testis-determining region. Proc Natl Acad Sci U S A. 1992; 89(22): 11016-20.
McElreavey, K. D. Vilain, E. Boucekkine, C. Vidaud, M. Jaubert, F. Richaud, F. Fellous, M. XY sex reversal associated with a nonsense mutation in SRY. Genomics. 1992; 13(3): 838-40.
Vilain, E. McElreavey, K. Richaud, F. Fellous, M. [Isolation of the sex-determining gene in men]. Pathol Biol (Paris). 1992; 40(1): 15-7.
Vilain, E. McElreavey, K. M. Richaud, F. Fellous, M. [Sex genetics]. Presse Med. 1992; 21(18): 852-6.
Vilain, E. McElreavey, K. Vidaud, M. Richaud, F. Fellous, M. [The analysis of SRY doesn't explain all the pathology of sex determination]. Ann Endocrinol (Paris). 1991; 52(6): 435-6.
Research Interest:

Sex determination orients development toward sexually dimorphic individuals, male or female. In mammals, male sex determination is triggered by a primary signal, encoded by the testis determining factor SRY, localized on the Y chromosome. Subsequently, a complex network of genes, most of them still unknown, is regulated and leads to male sexual differentiation. I have discovered new molecular and cellular mechanisms of sex determination during fetal development. In particular, I have provided strong evidence supporting SRY as the testis determining gene, and identified regulatory mechanisms of transcription of DAX1, another sex determining gene. A new concept is now emerging: normal sexual development may result from the functional and developmental integration of a number of different genes that play roles at all levels of sex determination, sexual differentiation and possibly in sexual behavior. My laboratory is exploring the genetics of development of the reproductive axis (hypothalamus-pituitary-gonads). Two complementary approaches are used: the analysis of patients with disorders of sexual development and the study of animal and cellular models. Specifically, we are searching for mutations in genes that are candidates for a role in developmental pathologies of the reproductive axis. We are also in the process of identifying differentially expressed genes at various times during embryonic development of the hypothalamus, pituitary, and gonads in the rat. In addition, we are searching for genes involved in the chemotactic system responsible for the migration of hypothalamic cells towards the pituitary. Finally, we are testing the hypothesis that there may be genetic influences on behavioral differences between males and females, in addition to the direct influence of sex steroids.