Retinoblastoma gene: a human cancer recessive (regulatory?) susceptibility gene.
The Rb susceptibility gene located in chromosomal region 13q14 apparently represents one of a class of recessive human cancer genes that can be contrasted to known oncogenes that function following amplification, aberrant insertion, or base substitutions at key sites within their gene. Loss of function of both Rb alleles appears to characterize the mechanism by which the Rb gene produces tumors, which may also include the second primary malignancies seen with high frequency in patients with the hereditary forms of retinoblastoma. Since the Rb gene may have a "suppressor" or "regulatory" function (which could include the regulation of an oncogene), cloning of such a human cancer susceptibility gene would seem highly worthwhile. Our laboratory, as well as several others, is therefore currently attempting to clone this gene.
D002901:Chromosomes, Human, 13-15; D005808:Genes, Recessive; D005809:Genes, Regulator; D008040:Genetic Linkage; D006801:Humans; D009283:Naphthol AS D Esterase / Q000235:genetics; D009857:Oncogenes; D012175:Retinoblastoma / Q000235:genetics*
D009283:Naphthol AS D Esterase