Portal de Periódicos da CAPES

Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis

1998; Wiley; Volume: 11; Issue: 1 Linguagem: Inglês

10.1002/(sici)1098-1004(1998)11

1098-1004

Thilo Dörk, Manfred Stuhrmann, Konstantin Miller, Jörg Schmidtke,

Genomics and Chromatin Dynamics

Human MutationVolume 11, Issue 1 p. 90-91 Letter to the Editor Independent observation of SRY mutation I90M in a patient with complete gonadal dysgenesis Thilo Dörk, Corresponding Author Thilo Dörk [email protected] Institute of Human Genetics, Center for Pediatrics and Human Genetics, Medical School Hannover, D-30623 Hannover, GermanyInstitut für Humangenetik, OE 6300, Medizinische Hochschule Hannover, Carl-Neuberg-Str. 1, D-30623 Hannover, GermanySearch for more papers by this authorManfred Stuhrmann, Manfred Stuhrmann Institute of Human Genetics, Center for Pediatrics and Human Genetics, Medical School Hannover, D-30623 Hannover, GermanySearch for more papers by this authorKonstantin Miller, Konstantin Miller Institute of Human Genetics, Center for Pediatrics and Human Genetics, Medical School Hannover, D-30623 Hannover, GermanySearch for more papers by this authorJörg Schmidtke, Jörg Schmidtke Institute of Human Genetics, Center for Pediatrics and Human Genetics, Medical School Hannover, D-30623 Hannover, GermanySearch for more papers by this author Thilo Dörk, Corresponding Author Thilo Dörk [email protected] Institute of Human Genetics, Center for Pediatrics and Human Genetics, Medical School Hannover, D-30623 Hannover, GermanyInstitut für Humangenetik, OE 6300, Medizinische Hochschule Hannover, Carl-Neuberg-Str. 1, D-30623 Hannover, GermanySearch for more papers by this authorManfred Stuhrmann, Manfred Stuhrmann Institute of Human Genetics, Center for Pediatrics and Human Genetics, Medical School Hannover, D-30623 Hannover, GermanySearch for more papers by this authorKonstantin Miller, Konstantin Miller Institute of Human Genetics, Center for Pediatrics and Human Genetics, Medical School Hannover, D-30623 Hannover, GermanySearch for more papers by this authorJörg Schmidtke, Jörg Schmidtke Institute of Human Genetics, Center for Pediatrics and Human Genetics, Medical School Hannover, D-30623 Hannover, GermanySearch for more papers by this author First published: 07 January 1999 https://doi.org/10.1002/(SICI)1098-1004(1998)11:1 3.0.CO;2-UCitations: 9AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL No abstract is available for this article. References Behlke MA, Bogan JS, Beer-Romero P, Page DC (1993) Evidence that the SRY protein is encoded by a single exon on the human Y chromosome. Genomics 17: 736– 739. Berta P, Hawkins JR, Sinclair AH, Taylor A, Griffiths BL, Goodfellow PN, Fellous M (1990) Genetic evidence equating SRY and the testis-determining factor. Nature 348: 448– 450. Cameron FJ, Sinclair AH (1997) Mutations in SRY and SOX9: Testis-determining genes. Hum Mutat 9: 388– 395. Harley VR, Jackson DI, Hextall PJ, Hawkins RJ, Berkovitz GD, Sockanathan S, Lovell-Badge R, Goodfellow PN (1992) DNA binding activity of recombinant SRY from normal males and XY females. Science 255: 453– 456. Hawkins JR (1993) Mutational analysis of SRY in XY females. Hum Mutat 2: 347– 350. Hawkins JR, Taylor A, Goodfellow PN, Migeon CJ, Smith KD, Berkovitz GD (1992) Evidence for increased prevalence of SRY mutations in XY females with complete rather than partial gonadal dysgenesis. Am J Hum Genet 51: 979– 984. Jäger RJ, Anvret M, Hall K, Scherer G (1990) A human XY female with a frame shift mutation in the candidate gene SRY. Nature 348: 452– 454. Jäger RJ, Harley VR, Pfeiffer RA, Goodfellow PN, Scherer G (1992) A familial mutation in the testis-determining gene SRY shared by both sexes. Hum Genet 90: 350– 355. Koopman P, Münsterberg A, Capel B, Vivian N, Lovell-Badge R (1990) Expression of a candidate sex-determining gene during mouse testis differentiation. Nature 348: 450– 452. Pontiggia A, Rimini R, Harley VR, Goodfellow PN, Lovell-Badge R, Bianchi ME (1994) Sex-reversing mutations affect the architecture of SRY-DNA complexes. EMBO J 13: 6115– 6124. Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, Foster JW, et al. (1990) A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif. Nature 346: 240– 244. Sinclair AH (1995) New genes for boys. Am J Hum Genet 57: 998– 1001. Vilain E, McElreavey K, Jaubert F, Raymond J-P, Richaud F, Fellous M (1992) Familial case with sequence variant in the testis-determining region associated with two sex phenotypes. Am J Hum Genet 50: 1008– 1011. Werner MH, Huth JR, Gronenborn AM, Clore GM (1995) Molecular basis of human 46X,Y sex reversal revealed from the three-dimensional solution structure of the human SRY-DNA complex. Cell 81: 705– 714. Citing Literature Volume11, Issue11998Pages 90-91 ReferencesRelatedInformation