A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome
| Autor: | Bruni L, Ettore D'Ambrosio, M. C. Tozzi, Roberto Verna, Vignetti P, E. Battiloro, Barbara Angeletti, Sergio Tondini |
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| Rok vydání: | 1997 |
| Předmět: |
Adult
HMG-box DNA Mutational Analysis Biology Arginine DNA sequencing law.invention chemistry.chemical_compound Restriction map law Genetics Humans Deoxyribonucleases Type II Site-Specific Gene Genetics (clinical) Polymerase chain reaction Gonadal Dysgenesis 46 XY Base Sequence High Mobility Group Proteins Nuclear Proteins Molecular biology Sex-Determining Region Y Protein DNA-Binding Proteins Testis determining factor High-mobility group chemistry Genes Mutation Female Asparagine DNA Transcription Factors |
| Zdroj: | Human genetics. 100(5-6) |
| ISSN: | 0340-6717 |
| Popis: | We describe a novel double nucleotide substitution in the SRY gene of a 46,XY female with gonadal dysgenesis or Swyer syndrome. The SRY sequence was analysed by both the single-strand conformational polymorphism assay and direct DNA sequencing of products from the polymerase chain reaction. A double nucleotide substitution was identified at codon 18 of the conserved HMG box motif, causing an arginine to asparagine amino acid substitution. The altered residue is situated in the high mobility group (HMG)-related box of the SRY protein, a potential DNA-binding domain. Since the mutation abolishes one HhaI recognition site, the results were confirmed by HhaI restriction mapping. No other mutations were found in the remaining regions of the gene. The corresponding DNA region from the patient's brother was analysed and found to be normal. We conclude that the SRY mutation in the reported XY female occurred de novo and is associated with sex reversal. |
| Databáze: | OpenAIRE |
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