title: Point mutational inactivation of the retinoblastoma antioncogene.
abstract: The retinoblastoma (Rb) antioncogene encodes a nuclear phosphoprotein, p105-Rb, that forms protein complexes with the adenovirus E1A and SV40 large T oncoproteins. A novel, aberrant Rb protein detected in J82 bladder carcinoma cells was not able to form a complex with E1A and was less stable than p105-Rb. By means of a rapid method for the detection of mutations in Rb mRNA, this defective Rb protein was observed to result from a single point mutation within a splice acceptor sequence in J82 genomic DNA. This mutation eliminates a single exon and 35 amino acids from its encoded protein product.
authors.affiliation: Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology, Cambridge 02142.
authors.forename: J M
authors.initials: JM
authors.lastname: Horowitz
authors.forename: D W
authors.initials: DW
authors.lastname: Yandell
authors.forename: S H
authors.initials: SH
authors.lastname: Park
authors.forename: S
authors.initials: S
authors.lastname: Canning
authors.forename: P
authors.initials: P
authors.lastname: Whyte
authors.forename: K
authors.initials: K
authors.lastname: Buchkovich
authors.forename: E
authors.initials: E
authors.lastname: Harlow
authors.forename: R A
authors.initials: RA
authors.lastname: Weinberg
authors.forename: T P
authors.initials: TP
authors.lastname: Dryja
mesh_terms: D017456:Adenovirus Early Proteins; D000952:Antigens, Polyomavirus Transforming; D001483:Base Sequence; D004268:DNA-Binding Proteins / Q000378:metabolism; D005134:Eye Neoplasms / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009856:Oncogene Proteins, Viral / Q000378:metabolism; D009857:Oncogenes; D010750:Phosphoproteins / Q000235:genetics* / Q000378:metabolism; D012175:Retinoblastoma / Q000235:genetics*; D016160:Retinoblastoma Protein
chemical_list: D017456:Adenovirus Early Proteins; D000952:Antigens, Polyomavirus Transforming; D004268:DNA-Binding Proteins; D009856:Oncogene Proteins, Viral; D010750:Phosphoproteins; D016160:Retinoblastoma Protein