A novel postzygotic nonsense mutation in SRY in familial XY gonadal dysgenesis
| Autor: | Luis Castaño, J. Ramón Bilbao, Liliane Loridan |
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| Rok vydání: | 1996 |
| Předmět: |
Gonad
Adolescent health care facilities manpower and services Molecular Sequence Data Nonsense mutation Gonadal dysgenesis Biology Postzygotic mutation Gonadal Dysgenesis Y chromosome Polymerase Chain Reaction XY gonadal dysgenesis parasitic diseases Genetics medicine Humans Genetics (clinical) Base Sequence Infant Newborn social sciences medicine.disease Testis determining factor medicine.anatomical_structure Mutation Mutation (genetic algorithm) population characteristics Female geographic locations |
| Zdroj: | Human Genetics. 97:537-539 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/bf02267082 |
| Popis: | The Y chromosome gene SRY plays an important role in normal male sexual development and is thought to be the testis-determining factor. We describe a familial nonsense mutation in SRY, shared by two XY sisters with complete gonadal dysgenesis and, in a mosaic manner, by their father. This mutation, consisting of a C to T transition in position 1 of codon 97 of SRY, results in a truncated peptide with an incomplete DNA-binding domain. The mutation is also present in the father of the two cases, but a portion of wild-type SRY also remains. Our data suggest that the father suffered a postzygotic mutation early in development, but that he retained a remnant of functional SRY protein that accounts for his normal development. |
| Databáze: | OpenAIRE |
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