Failure of testicular development associated with a rearrangement of 9p24.1 proximal to the SNF2 gene

Human Genetics

Volumn 102, Issue 2, 1998, Pages 151-156

  Ion, Ruxandra ^a   Telvi, Louise ^a   Chaussain, Jean Louis ^a   Barbet, Jacques Patrick ^a   Nunes, Manoel ^b   Safar, Anne ^a   Réthoré, Marie Odile ^c   Fellous, Marc ^b   McElreavey, Ken ^b  

^a HÔPITAL SAINT VINCENT DE PAUL   (France)

^b INSTITUT PASTEUR   (France)

^c Institut de Progénèse   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME 9P; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME STRUCTURE; CONTROLLED STUDY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; GENE REARRANGEMENT; GONADAL DYSGENESIS; HUMAN; HUMAN CELL; MALE; MENTAL DEFICIENCY; PRIORITY JOURNAL; SEX DETERMINATION; SEXUAL DEVELOPMENT; SOUTHERN BLOTTING; TESTIS DEVELOPMENT; X CHROMOSOME; Y CHROMOSOME;

EID: 0031947449     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050669     Document Type: Article

References (30)

1. Adolf G R, Fruehbeis B, Hauptmann R, Kalsner I, Maurer-Fogy I, Ostermann E, Patzelt E, Schwendenwein R, Sommergruber W, Zoephel A (1991) Human Interferon omega I: isolation of the gene, expression in Chinese hamster ovary cells and characterisation of the recombinant protein. Biochem Biophys Acta 1089:167-174
2. Affara NA, Chalmers IJ, Ferguson-Smith A (1993) Analysis of the SRY gene in 22 sex-reversed XY females identifies four new point mutations in the conserved DNA binding domain. Hum Mol Genet 2:785-789
3. Bardoni B, Zanaria E, Guioli S, Floridia G, Worley G, Tonini G, Ferrante E, Chiumello G, McCabe ERB, Fracarro M, Zuffardi O, Camerino G (1994) A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nature Genet 7:497-501
4. Bennett CP, Docherty Z, Robb SA, Ramani P, Hawkins JR, Grant D (1993) Deletion 9p and sex reversal. J Med Genet 30:518-520
5. Berkovitz GD (1992) Abnormalities of gonad determination and differentiation. Semin Perinatol 16:289-298
6. Caspersson T, Zech L, Johansson C (1970) Identification of human chromosomes by DNA-binding fluorescent agents. Exp Cell Res 60:315-319
7. Crocker M, Coghill SB, Cortinho R (1988) An unbalanced autosomal translocation (7;9) associated with feminization. Clin Genet 34:70-73
8. De Grouchy J, Turleau C (1982) Atlas des maladies chromosomiques. Expansion Scientific Française, Paris, pp 162-167
9. Espiner EA, Veale AMO, Sands VE, Fitzgerald PH (1970) Familial syndrome of streak gonads and normal male karyotype in five phenotypic females. N Engl J Med 283:6-11
10. Foster JW, Dominquez-Steglich MA, Guioli S, Kwok C, Weller, PA, Stevanic M, Weissenbach J, Mansour S, Young ID, Goodfellow PN, Brook JD, Schafer A (1994) Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature 372:525-530
11. Fryns JP, Kleczkowksa A, Casaer P, Van Den Berghe H (1986) Double autosomal chromosomal aberration (3p trisomy/9p monosomy) and sex reversal. Ann Génét (Paris) 29:49-52
12. Gibbons RJ, Picketts DJ, Villard L, Higgs DR (1995) Mutations in a putative global transcriptional regulator cause X-linked mental retardation with alpha thalassemia (ATR-X syndrome) Cell 80:837-845
13. Goodfellow PN, Lovell-Badge R (1993) SRY and sex determination in mammals. Annu Rev Genet 27:71-92
14. Hawkins JR, Taylor A, Berta P, Levilliers J, Van der Auwera B, Goodfellow PN (1992) Mutational analysis of SRY: nonsense and missense mutations in XY sex reversal. Hum Genet 88:471-474
15. Hoo JJ, Salafsky IS, Lin CC (1989) Possible localisation of a recessive testis forming gene on 9p24. Am J Hum Genet (Suppl) 45:A73
16. Huret JL, Leonard C, Forestier B, Rethoré MO, Lejeune J (1988) Eleven new cases of del(9p) and features of 80 cases. J Med Genet 25:741-749
17. Ion A, Telvi L, Chaussain JL, Valayer J, Job JC, Fellous M, McElreavey K (1996) A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome. Am J Hum Genet 58:1185-1191
18. Jotterand M, Juillard E (1976) A new case of trisomy for the distal part of 13q due to maternal translocation t(9;13)(p21;q21). Hum Genet 33:213-222
19. Leslie ND, Immerman EB, Flach JE, Florez M, Fridovitch-Keil JL, Elsas LJ (1992) The human galactose-1-phosphate uridyltransferase gene. Genomics 14:474-480
20. Magenis RE, Allen LJ, Brown MG(1990) 9p Monosomy associated with XY gonadal dysgenesis: a contiguous gene syndrome. Am J Hum Genet (Suppl) 47:A33
21. McElreavey K, Vilain E, Abbas N, Costa J-M, Souleyreau N, Kucheria K, Boucekkine C, Thibaud E, Brauner R, Flamant F, Fellous M (1992) XY sex reversal associated with a deletion 5′ to the SRY "HMG box" in the testis-determining region. Proc Natl Acad Sci USA 89:11016-11020
22. McPherson EW, Clemens MM, Gibbons RJ, Higgs DR (1995) X-linked α-thalassemia/mental retardation (ATR-X) syndrome: a new kindred with severe genital anomalies and mild hematologic expression. Am J Med Genet 55:302-306
23. Muchardt C, Yaniv M (1993) A human homologue of Saccharomyces cerevisiae SNF2/SW12 and Drosophila brm genes potentiates transcriptional activation by the glucocorticoid receptor. EMBO J 12:4279-4290
24. Muchardt C. Yaniv M, Mattei MG (1994) Assignment of HBRM, the human homolog of S. cerevisiae SNF2/SW12 and Drosophila brm genes, to chromosome region 9p23-p24 by in situ hybridisation. Mamm Genome 5:241-243
25. Rothstein JD, Jin L, Dykes-Hoberg M, Kuncl RW (1993) Chronic inhibition of glutamate uptake produces a model of slow neurotoxicity. Proc Natl Acad Sci USA 90:6591-6595
26. Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffith BL, Smith MJ, Foster JW, Frischauf AW, Lovell-Badge R, Goodfellow P (1990) A gene from the human sex determining region encodes a protein with homology to a conserved DNA binding motif. Nature 346:240-244
27. Smith CP, Weremowicz S, Kanai Y, Stelzner M, Morton CC, Hediger MA (1994) Assignment of the gene coding for the human high-affinity glutamate transporter EAAC1 to 9p24: potential role in dicarboxylic aminoaciduria and neurodegenerative disorders. Genomics 20:335-336
28. Swarna M, Rao DN, Reddy PP (1989) Dicarboxylic aminoaciduria associated with mental retardation. Hum Genet 82:299-300
29. Telvi L, Bernheim A, Ion A, Fouquet F, Le Bouc Y, Chaussain J-L(1995) Gonadal dysgenesis in del(18p) syndrome. Am J Med Genet 57:598-600
30. Wilkie AOM, Campbell FM, Daubeney P, Grant DB, Daniels R J, Mullarkey M, Affara NA, Fitchett M, Huson SM (1993) Complete and partial XY sex reversal associated with terminal deletion of 10q: report of 2 cases and literature review. Am J Med Genet 46:597-600