Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination

Human Molecular Genetics

Volumn 23, Issue 14, 2014, Pages 3657-3665

  Bashamboo, Anu ^a   Brauner, Raja ^b   Bignon Topalovic, Joelle ^a   Lortat Jacob, Stephen ^c   Karageorgou, Vasiliki ^a   Lourenco, Diana ^a   Guffanti, Alessandro ^d   McElreavey, Ken ^a  

^a INSTITUT PASTEUR   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d Genomnia   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR GATA 2; TRANSCRIPTION FACTOR GATA 4; DNA BINDING PROTEIN; GATA4 PROTEIN, HUMAN; TRANSCRIPTION FACTOR; ZFPM2 PROTEIN, HUMAN;

ADULT; ARTICLE; CASE REPORT; COMPUTER MODEL; DISORDER OF SEX DEVELOPMENT; EXOME; FEMALE; FOG2 GENE; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GONADAL DYSGENESIS; HAPLOINSUFFICIENCY; HEREDITY; HETEROZYGOSITY; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; KARYOTYPE 46,XY; MALE; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN STRUCTURE; SEX DETERMINATION; TESTIS; TESTIS DEVELOPMENT; XY GONADAL DYSGENESIS; CHEMICAL STRUCTURE; DNA SEQUENCE; GENETICS; HEK293 CELL LINE; HOMOZYGOTE; METABOLISM; PATHOLOGY; PEDIGREE;

46, XY DISORDERS OF SEX DEVELOPMENT; DNA-BINDING PROTEINS; EXOME; FEMALE; GATA4 TRANSCRIPTION FACTOR; GENETIC ASSOCIATION STUDIES; HEK293 CELLS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MALE; MODELS, MOLECULAR; MUTATION, MISSENSE; PEDIGREE; SEQUENCE ANALYSIS, DNA; TESTIS; TRANSCRIPTION FACTORS;

EID: 84901260856     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu074     Document Type: Article

References (26)

1. Quinn, A. and Koopman, P. (2012) The molecular genetics of sex determination and sex reversal in mammals. Semin. Reprod. Med., 30, 351-363.
2. Hughes, I.A., Houk, C., Ahmed, S.F. and Lee, P.A., Group, LWPESESfPEC (2006) Consensus statement on management of intersex disorders. J. Pediatr. Urol., 2, 148-162.
3. Bashamboo, A. and McElreavey, K. (2013) Gene mutations associated with anomalies of human gonad formation. Sex. Dev., 7, 126-146.
4. Ahmed, S.F., Bashamboo, A., Lucas-Herald, A. and McElreavey, K. (2013) Understanding the genetic aetiology in patients with XY DSD. Br. Med. Bull., 106, 67-89.
5. Zaytouni, T., Efimenko, E.E. and Tevosian, S.G. (2011) GATAtranscription factors in the developing reproductive system. Adv. Genet., 76, 93-134.
6. Tevosian, S.G., Albrecht, K.H., Crispino, J.D., Fujiwara, Y., Eicher, E.M. and Orkin, S.H. (2002) Gonadal differentiation, sex determination and normal Sry expression in mice require direct interaction between transcription partners GATA4 and FOG2. Development, 129, 4627-4634.
7. Miyamoto, Y., Taniguchi, H., Hamel, F., Silversides, D.W. and Viger, R.S. (2008) A GATA4/WT1 cooperation regulates transcription of genes required for mammalian sex determination and differentiation. BMC Mol. Biol., 9, 44.
8. Manuylov, N.L., Fujiwara, Y., Adameyko, I.I., Poulat, F. and Tevosian, S.G. (2007) The regulation of Sox9 gene expression by the GATA4/FOG2 transcriptional complex in dominant XX sex reversal mouse models. Dev. Biol., 307, 356-367.
9. Tremblay, J.J., Robert, N.M. and Viger, R.S. (2001) Modulation of endogenous GATA-4 activity reveals its dual contribution to Müllerian inhibiting substance gene transcription in Sertoli cells. Mol. Endocrinol., 15, 1636-1650.
10. Lourenço, D., Brauner, R., Rybczynska, M., Nihoul-Fékété, C., McElreavey, K. and Bashamboo, A. (2011) Loss-of-function mutation in GATA4 causes anomalies of human testicular development. Proc. Natl Acad. Sci. USA, 108, 1597-1602.
11. Lu, J.R., McKinsey, T.A., Xu, H., Wang, D.Z., Richardson, J.A. and Olson, E.N. (1999) FOG-2, a heart- and brain-enriched cofactor for GATA transcription factors. Mol. Cell Biol., 19, 4495-4502.
12. Svensson, E.C., Tufts, R.L., Polk, C.E. and Leiden, J.M. (1999) Molecular cloning of FOG-2: a modulator of transcription factor GATA-4 in cardiomyocytes. Proc. Natl Acad. Sci. USA, 96, 956-961.
13. Tevosian, S.G., Deconinck, A.E., Tanaka, M., Schinke, M., Litovsky, S.H., Izumo, S., Fujiwara, Y. and Orkin, S.H. (2000) FOG-2, a cofactor forGATA transcription factors, is essential for heart morphogenesis and development of coronary vessels from epicardium. Cell, 101, 729-739.
14. Manuylov, N.L., Zhou, B., Ma, Q., Fox, S.C., Pu, W.T. and Tevosian, S.G. (2011) Conditional ablation of Gata4 and Fog2 genes in mice reveals their distinct roles in mammalian sexual differentiation. Dev. Biol., 353, 229-241.
15. Bouma, G.J., Washburn, L.L., Albrecht, K.H. and Eicher, E.M. (2007) Correct dosage of Fog2 and Gata4 transcription factors is critical for fetal testis development in mice. Proc. Natl Acad. Sci. USA, 104, 14994-14999.
16. Giuili, G., Shen, W.H. and Ingraham, H.A. (1997) The nuclear receptor SF-1 mediates sexually dimorphic expression of Mullerian Inhibiting Substance, in vivo. Development, 124, 1799-1807.
17. Tremblay, J.J. and Viger, R.S. (2003) Amutated form of steroidogenic factor 1 (SF-1 G35E) that causes sex reversal in humans fails to synergize with transcription factor GATA-4. J. Biol. Chem., 278, 42637-42642.
18. Robert, N.M., Tremblay, J.J. and Viger, R.S. (2002) Friend of GATA (FOG)-1 and FOG-2 differentially repress the GATA-dependent activity of multiple gonadal promoters. Endocrinology, 143, 3963-3973.
19. Anttonen, M., Ketola, I., Parviainen, H., Pusa, A.K. and Heikinheimo, M. (2003) FOG-2 and GATA-4 Are coexpressed in the mouse ovary and can modulate mullerian-inhibiting substance expression. Biol. Reprod., 68, 1333-1340.
20. Sekido, R. and Lovell-Badge, R. (2008) Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer. Nature, 453, 930-934.
21. Greenbaum, L., Smith, R.C., Lorberboym, M., Alkelai, A., Zozulinsky, P., Lifschytz, T., Lifshytz, T., Kohn, Y., Djaldetti, R. and Lerer, B. (2012) Association of theZFPM2gene with antipsychotic-induced parkinsonism in schizophrenia patients. Psychopharmacology (Berl), 220, 519-528.
22. Pizzuti, A., Sarkozy, A., Newton, A.L., Conti, E., Flex, E., Digilio, M.C., Amati, F., Gianni, D., Tandoi, C., Marino, B. et al. (2003) Mutations of ZFPM2/FOG2gene in sporadic cases of tetralogy of Fallot. Hum. Mutat., 22, 372-377.
23. Finelli, P., Pincelli, A.I., Russo, S., Bonati, M.T., Recalcati, M.P., Masciadri, M., Giardino, D., Cavagnini, F. and Larizza, L. (2007) Disruption of friend of GATA 2 gene (FOG-2) by a de novo t(8;10) chromosomal translocation is associated with heart defects and gonadal dysgenesis. Clin. Genet., 71, 195-204.
24. Tan, Z.P., Huang, C., Xu, Z.B., Yang, J.F. and Yang, Y.F. (2012) Novel ZFPM2/FOG2 variants in patients with double outlet right ventricle. Clin. Genet., 82, 466-471.
25. De Luca, A., Sarkozy, A., Ferese, R., Consoli, F., Lepri, F., Dentici, M.L., Vergara, P., De Zorzi, A., Versacci, P., Digilio, M.C. et al. (2011) New mutations inZFPM2/FOG2gene in tetralogy of Fallot and double outlet right ventricle. Clin. Genet., 80, 184-190.
26. Deck, M., Lokmane, L., Chauvet, S., Mailhes, C., Keita, M., Niquille, M., Yoshida, M., Yoshida, Y., Lebrand, C., Mann, F. et al. (2013) Pathfinding of corticothalamic axons relies on a rendezvous with thalamic projections. Neuron, 77, 472-484.