Oncogenic germ-line mutations in Sp1 and ATF sites in the human retinoblastoma gene

Toshiyuki Sakai, Naoko Ohtani, Terri L. McGee, Paul D. Robbins, Thaddeus P. Dryja

Research output: Contribution to journalArticlepeer-review

223 Scopus citations


THE transcription of a eukaryotic gene is a consequence of intricate interactions between members of a set of transcription factors1. We describe here evidence indicating that at least two distinct DNA-binding factors play an important part in the transcription of the human retinoblastoma gene (Rb). One of the factors reacts with a sequence overlapping with a potential Spl recognition sequence in the promoter region of the gene, the other with a nearby ATF recognition sequence. We have identified two naturally occurring point mutations in these recognition sequences that cause hereditary retinoblastoma. The nuclear factors do not bind to the mutant sequences. We infer that these nuclear factors are necessary for the expression of the Rb gene and the suppression of cancer.

Original languageEnglish (US)
Pages (from-to)83-86
Number of pages4
Issue number6339
StatePublished - 1991
Externally publishedYes

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