Homozygous inactivation of WTI in a Wilms' tumor associated with the WAGR syndrome
Zitieren Sie bitte immer diese URN: urn:nbn:de:bvb:20-opus-59146
- Wilms' tumor is a childhood nephroblastoma that is postulated to arise through the inactivation of a tumor suppressor gene by a two-hit mechanism. A candidate II p 13 Wilms' tumor gene, WTI, has been cloned and shown to encode a zinc finger protein. Patients with the WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities, and mental retardation) have a high risk of developing Wilms' tumor and they carry constitutional deletions of one chromosome II allele encompassing the WTI gene. Analysis of the remaining WTI allele in a Wilms'Wilms' tumor is a childhood nephroblastoma that is postulated to arise through the inactivation of a tumor suppressor gene by a two-hit mechanism. A candidate II p 13 Wilms' tumor gene, WTI, has been cloned and shown to encode a zinc finger protein. Patients with the WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities, and mental retardation) have a high risk of developing Wilms' tumor and they carry constitutional deletions of one chromosome II allele encompassing the WTI gene. Analysis of the remaining WTI allele in a Wilms' tumor from a WAGR patient revealed the deletion of a single nucleotide in exon 7. This mutation likely played a key role in tumor formation, as it prevents translation of the DNA-binding zinc finger domain that is essential for the function of the WTI polypeptide as a transcriptional regulator.…
Autor(en): | Manfred Gessler, Anja Konig, Jay Moore, Steven Qualman, Karen Arden, Webster Cavenee, Gail Bruns |
---|---|
URN: | urn:nbn:de:bvb:20-opus-59146 |
Dokumentart: | Artikel / Aufsatz in einer Zeitschrift |
Institute der Universität: | Fakultät für Biologie / Theodor-Boveri-Institut für Biowissenschaften |
Sprache der Veröffentlichung: | Englisch |
Erscheinungsjahr: | 1993 |
Originalveröffentlichung / Quelle: | In: Genes Chromosomes & Cancer (1993) 7, S. 131 - 136. |
Allgemeine fachliche Zuordnung (DDC-Klassifikation): | 5 Naturwissenschaften und Mathematik / 57 Biowissenschaften; Biologie / 570 Biowissenschaften; Biologie |
Normierte Schlagworte (GND): | Biochemie |
Datum der Freischaltung: | 18.08.2011 |
Lizenz (Deutsch): | Deutsches Urheberrecht |