Molecular, Cytogenetic and Linkage Analysis of Chromosome 11p Regions Involved in Wilms’ Tumour and Associated Congenital Diseases

摘要: Congenital deletions associated with human tumours have been described for retinoblastoma (chromosome band 13q 14; Yunis and Ramsay 1978) the Wilms’ tumour-aniridia, genitourinary abnormalities mental retardation triad (WAGR; chromosome 11pl3; Riccardi et al. 1978, 1980; Francke 1979). In both cases (loss of function) suggest existence tumour-suppressor genes within these regions. The gene (Rb-1) has cloned (Friend 1986; Lee 1987a) its activity demonstrated (Huang 1988). encodes a protein nuclear localization DNA-binding capability (such as zinc-binding fingers) (Lee 1987a,b) suggesting regulatory function. Furthermore, in all retinoblastomas, copies Rb are inactivated or transcribe altered mRNAs Fung 1987). product binds to several viral transforming proteins such E1A adenovirus type 5, SV40 large T papilloma virus 16 E7 oncogenes (summarized by Weinberg 1989), indicating that it might counteract proteins.