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

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

Research output: Contribution to journalArticle

2023 Citations (Scopus)

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 cells1-4. There is evidence for another class of oncogenes, in which tumour-predisposing mutations are recessive to wild-type alleles5-7. Retinoblastoma is a prototype biological model for the study of such recessive oncogenes8. 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 (refs 9-12), assigned to the q14 band of human chromosome 13 (refs 13-22). 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 tumours23, almost half of which are osteosarcomas believed to be caused by the same mutation24,25. 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 13ql4, all or part of which is frequently deleted in retinoblastomas and osteosarcomas.

Original languageEnglish (US)
Pages (from-to)643-646
Number of pages4
JournalNature
Volume323
Issue number6089
DOIs
StatePublished - Dec 1 1986
Externally publishedYes

Fingerprint

Retinoblastoma
Osteosarcoma
DNA
Human Chromosomes
Oncogenes
Genes
Neoplasms
Complementary DNA
Gametogenesis
Chromosomes, Human, Pair 13
Biological Models
Mutation
Genetic Loci
Alleles
Genome
RNA
Incidence

ASJC Scopus subject areas

  • General

Cite this

Friend, S. H., Bernards, R., Rogelj, S., Weinberg, R. A., Rapaport, J. M., Albert, D., & Dryja, T. P. (1986). A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature, 323(6089), 643-646. https://doi.org/10.1038/323643a0

A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. / Friend, Stephen H.; Bernards, Rene; Rogelj, Snezna; Weinberg, Robert A.; Rapaport, Joyce M.; Albert, Daniel; Dryja, Thaddeus P.

In: Nature, Vol. 323, No. 6089, 01.12.1986, p. 643-646.

Research output: Contribution to journalArticle

Friend, SH, Bernards, R, Rogelj, S, Weinberg, RA, Rapaport, JM, Albert, D & Dryja, TP 1986, 'A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma', Nature, vol. 323, no. 6089, pp. 643-646. https://doi.org/10.1038/323643a0
Friend SH, Bernards R, Rogelj S, Weinberg RA, Rapaport JM, Albert D et al. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature. 1986 Dec 1;323(6089):643-646. https://doi.org/10.1038/323643a0
Friend, Stephen H. ; Bernards, Rene ; Rogelj, Snezna ; Weinberg, Robert A. ; Rapaport, Joyce M. ; Albert, Daniel ; Dryja, Thaddeus P. / A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. In: Nature. 1986 ; Vol. 323, No. 6089. pp. 643-646.
@article{6ece427198c646ab9a0213c2ffddc263,
title = "A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma",
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 cells1-4. There is evidence for another class of oncogenes, in which tumour-predisposing mutations are recessive to wild-type alleles5-7. Retinoblastoma is a prototype biological model for the study of such recessive oncogenes8. 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 (refs 9-12), assigned to the q14 band of human chromosome 13 (refs 13-22). 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 tumours23, almost half of which are osteosarcomas believed to be caused by the same mutation24,25. 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 13ql4, all or part of which is frequently deleted in retinoblastomas and osteosarcomas.",
author = "Friend, {Stephen H.} and Rene Bernards and Snezna Rogelj and Weinberg, {Robert A.} and Rapaport, {Joyce M.} and Daniel Albert and Dryja, {Thaddeus P.}",
year = "1986",
month = "12",
day = "1",
doi = "10.1038/323643a0",
language = "English (US)",
volume = "323",
pages = "643--646",
journal = "Nature",
issn = "0028-0836",
publisher = "Nature Publishing Group",
number = "6089",

}

TY - JOUR

T1 - A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma

AU - Friend, Stephen H.

AU - Bernards, Rene

AU - Rogelj, Snezna

AU - Weinberg, Robert A.

AU - Rapaport, Joyce M.

AU - Albert, Daniel

AU - Dryja, Thaddeus P.

PY - 1986/12/1

Y1 - 1986/12/1

N2 - 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 cells1-4. There is evidence for another class of oncogenes, in which tumour-predisposing mutations are recessive to wild-type alleles5-7. Retinoblastoma is a prototype biological model for the study of such recessive oncogenes8. 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 (refs 9-12), assigned to the q14 band of human chromosome 13 (refs 13-22). 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 tumours23, almost half of which are osteosarcomas believed to be caused by the same mutation24,25. 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 13ql4, all or part of which is frequently deleted in retinoblastomas and osteosarcomas.

AB - 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 cells1-4. There is evidence for another class of oncogenes, in which tumour-predisposing mutations are recessive to wild-type alleles5-7. Retinoblastoma is a prototype biological model for the study of such recessive oncogenes8. 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 (refs 9-12), assigned to the q14 band of human chromosome 13 (refs 13-22). 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 tumours23, almost half of which are osteosarcomas believed to be caused by the same mutation24,25. 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 13ql4, all or part of which is frequently deleted in retinoblastomas and osteosarcomas.

UR - http://www.scopus.com/inward/record.url?scp=0022506980&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0022506980&partnerID=8YFLogxK

U2 - 10.1038/323643a0

DO - 10.1038/323643a0

M3 - Article

C2 - 2877398

AN - SCOPUS:0022506980

VL - 323

SP - 643

EP - 646

JO - Nature

JF - Nature

SN - 0028-0836

IS - 6089

ER -