EXPRESSION OF A MUTANT ANDROGEN RECEPTOR IN CLONED FIBROBLASTS DERIVED FROM A HETEROZYGOUS CARRIER FOR THE SYNDROME OF TESTICULAR FEMINIZATION
- 1 January 1983
- journal article
- research article
- Vol. 35 (3) , 376-384
Abstract
Thermolability of androgen binding was compared in fibroblasts cloned from normal female skin, skin from a subject with testicular feminization whose mutation is known to be associated with a thermolabile androgen receptor and from the mother of the subject with testicular feminization. Seven of 28 clones studied from the mother exhibited thermolability of binding, indicating that the mutant gene that causes thermolability of binding, like the gene responsible for the normal androgen receptor, is X-linked.This publication has 15 references indexed in Scilit:
- Variation in steroid 5 alpha-reductase activity in cloned human skin fibroblasts. Shift in phenotypic expression from high to low activity upon subcloning.Journal of Biological Chemistry, 1981
- Congenital androgen insensitivity due to a qualitatively abnormal androgen receptorAmerican Journal of Medical Genetics, 1981
- Testicular Feminization Associated with a Thermolabile Androgen Receptor in Cultured Human FibroblastsJournal of Clinical Investigation, 1979
- A case of complete testicular feminisation and 47,XXY karyotype.Journal of Medical Genetics, 1979
- VARIABILITY OF RED-CELL PHENOTYPES BETWEEN AND WITHIN INDIVIDUALS IN AN UNBIASED SAMPLE OF 77 HETEROZYGOTES FOR G6PD DEFICIENCY IN SARDINIA1976
- Ein Fall von testiculärer Feminisierung mit dem Karyotyp 47,XXYHuman Genetics, 1976
- Locus on human X chromosome for dihydrotestosterone receptor and androgen insensitivity.Proceedings of the National Academy of Sciences, 1975
- Studies of skin fibroblasts from 10 families with HGPRT deficiency, with reference in X-chromosomal inactivation.1971
- X-linked Gene for Testicular Feminization in the MouseNature, 1970
- Hemizygous Expression of Glucose-6-Phosphate Dehydrogenase in Erythrocytes of Heterozygotes for the Lesch-Nyhan SyndromeProceedings of the National Academy of Sciences, 1970