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A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma
Open accessAbstract
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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“Loss of RB also increases the risk of osteosarcoma development in children and teenagers18–20.”
From Cellular mechanisms of tumour suppression by the retinoblastoma gene (2008) · cites this paper as [18]
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Metadata
- 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)
- Venue
- Nature
- Published
- 1986-10
- Volume
- 323
- Issue
- 6089
- Pages
- 643-646
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- 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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