Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/195218
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: Assumpção, J G
Benedetti, C E
Maciel-Guerra, A T
Guerra, G
Baptista, M T M
Scolfaro, M R
de Mello, M P
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 SRY(N65H) 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 (29)RRSSS(33) phosphorylation site. The E. coli expressed SRY(R30I) protein was poorly phosphorylated and consequently showed reduced DNA-binding capacity in vitro.
Subject: Blotting, Western
Codon
Dna
Escherichia Coli
Female
Genes, Sry
Gonadal Dysgenesis
Hmg-box Domains
Humans
Male
Mutation
Mutation, Missense
Open Reading Frames
Pedigree
Phenotype
Phosphorylation
Polymerase Chain Reaction
Protein Binding
Sex Determination Processes
Sex Differentiation
Rights: fechado
Identifier DOI: 10.1007/s00109-002-0376-9
Address: http://www.ncbi.nlm.nih.gov/pubmed/12483463
Date Issue: 2002
Appears in Collections:Unicamp - Artigos e Outros Documentos

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