Cited by 2,948Ocular Oncology and TreatmentsCancer-related Molecular PathwaysRetinal Development and Disorders

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A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma

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Friend, Stephen H., Bernards, Rene, Rogelj, Snezna, Weinberg, Robert A., Rapaport, Joyce M., Albert, Daniel M., Dryja, Thaddeus P.·1986·Nature

DOI 10.1038/323643a0

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Abstract

The genomes of various tumour cells contain mutant oncogenes that act dominantly, in that their effects can be observed when they are introduced into non-malignant cells. There is evidence for another class of oncogenes, in which tumour-predisposing mutations are recessive to wild-type alleles. Retinoblastoma is a prototype biological model for the study of such recessive oncogenes. This malignant tumour, which arises in the eyes of children, can be explained as the result of two distinct genetic changes, each causing loss of function of one of the two homologous copies at a single genetic locus, Rb, assigned to the q14 band of human chromosome 13. Mutations affecting this locus may be inherited from a parent, may arise during gametogenesis or may occur somatically. Those who inherit a mutant allele at this locus have a high incidence of non-ocular, second tumours, almost half of which are osteosarcomas believed to be caused by the same mutation. Here we describe the isolation of a complementary DNA segment that detects a chromosomal segment having the properties of the gene at this locus. The gene is expressed in many tumour types, but no RNA transcript has been found in retinoblastomas and osteosarcomas. The cDNA fragment detects a locus spanning at least 70 kilobases (kb) in human chromosome band 13q14, all or part of which is frequently deleted in retinoblastomas and osteosarcomas.

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Authors: Friend, S. H., Bernards, R., Rogelj, S., Weinberg, R. A., Rapaport, J. M., Albert, D. M., & Dryja, T. P.
Affiliations: Harvard University (US)
Whitehead Institute for Biomedical Research (US)
Massachusetts Eye and Ear Infirmary (US)
ORCID: Friend, Stephen H.
Rogelj, Snezna
Weinberg, Robert A.
Albert, Daniel M.
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 1986-10
Volume: 323
Issue: 6089
Pages: 643-646
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/323643a0
OpenAlex: W2099742439
Cited by: 2,948
References: 43
Citations by year: 2026: 21 · 2025: 30 · 2024: 26 · 2023: 41 · 2022: 47 · 2021: 63 · 2020: 55 · 2019: 47 · 2018: 52 · 2017: 47 · 2016: 55 · 2015: 67 · 2014: 77 · 2013: 59 · 2012: 81
FWCI: 166.19
Type: journal article
Language: en
Open access: green
dspace.library.uu.nl
Licence: other-oa
www.springer.com/tdm (tdm)
Locations: Nature (publishedVersion)
PubMed (publishedVersion)
Utrecht University Repository (Utrecht University) (submittedVersion, other-oa)
Funders: National Eye Institute (EY05321)
National Cancer Institute (CA 39826)
Topics: Health Sciences › Medicine › Ophthalmology › Ocular Oncology and Treatments
Health Sciences › Medicine › Oncology › Cancer-related Molecular Pathways
Health Sciences › Medicine › Ophthalmology › Retinal Development and Disorders
Keywords: retinoblastoma, osteosarcoma, retinoblastoma gene, chromosome 13q14, cancer susceptibility, cDNA cloning, chromosomal deletion, second primary tumours, loss of heterozygosity
MeSH terms: Chromosome Deletion, Chromosome Mapping, Chromosomes, Human, Pair 13, Cloning, Molecular, DNA, DNA, Neoplasm, Genes, Recessive, Humans, Polymorphism, Restriction Fragment Length, Retina, Retinoblastoma, Osteosarcoma

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A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma

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