Point mutational inactivation of the retinoblastoma antioncogene |
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Authors: | J M Horowitz D W Yandell S H Park S Canning P Whyte K Buchkovich E Harlow R A Weinberg T P Dryja |
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Institution: | Whitehead Institute for Biomedical Research, Massachusetts Institute of Technology, Cambridge 02142. |
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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. |
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