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Type: Artigo de periódico
Title: Novel mutations affecting SRY DNA-binding activity: the HMG box N65H associated with 46,XY pure gonadal dysgenesis and the familial non-HMG box R30I associated with variable phenotypes
Author: Assumpcao, JG
Benedetti, CE
Maciel-Guerra, AT
Guerra, G
Baptista, MTM
Scolfaro, MR
de Mello, MP
Abstract: The SRY gene (sex-determining region of the Y chromosome) initiates the process of male sex differentiation in mammalians. In humans mutations in the SRY gene have been reported to account for 10-15% of the XY sex reversal cases. We describe here two novel missense mutations in the SRY gene after the screening of 17 patients, including 3 siblings, with 46,XY gonadal dysgenesis and 4 true hermaphrodites. One of the mutations, an A to C transversion within the HMG box, causes the N65H substitution and it was found in a patient presenting 46,XY pure gonadal dysgenesis. The Escherichia coli expressed SRYN65H protein did not present DNA-binding activity in vitro. The other mutation, a G to T transversion, causes the R30I substitution. This mutation was found in affected and nonaffected members of a family, including the father, two siblings with partial gonadal dysgenesis, a phenotypic female with pure gonadal dysgenesis, and three nonaffected male siblings. The G to T base change was not found in the SRY sequence of 100 normal males screened by ASO-PCR. The R30I mutation is located upstream to the HMG box, within the (RRSSS33)-R-29 phosphorylation site. The E. coli expressed SRYR30I protein was poorly phosphorylated and consequently showed reduced DNA-binding capacity in vitro.
Subject: SRY
46,XY gonadal dysgenesis
46,XY sex reversal
sex determination
Country: EUA
Editor: Springer-verlag
Citation: Journal Of Molecular Medicine-jmm. Springer-verlag, v. 80, n. 12, n. 782, n. 790, 2002.
Rights: fechado
Identifier DOI: 10.1007/s00109-002-0376-9
Date Issue: 2002
Appears in Collections:Unicamp - Artigos e Outros Documentos

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