Deletions of a DNA sequence in retinoblastomas and mesenchymal tumors: organization of the sequence and its encoded protein.

Journal Article (Journal Article)

Retinoblastoma is a childhood tumor that can arise because of mutant alleles acquired as somatic or germinal mutations. The mutant allele can be carried in the germ line. The mutations creating these alleles act by inactivating copies of a recessive oncogene located within band q14 of chromosome 13 and termed the RB1 locus. We have reported isolation of a cDNA fragment that recognizes chromosomal sequences possessing many of the attributes of the retinoblastoma gene associated with the RB1 locus. We now report that this segment is additionally the target of somatic mutations in mesenchymal tumors among patients having no apparent predisposition to retinoblastoma and no previous evidence of retinoblastoma. These tumors provide additional evidence that the cloned sequences are representative of a gene that is a frequent target of inactivation during tumorigenesis. Sequence analysis of this cDNA provides little insight into its normal functional role.

Full Text

Duke Authors

Cited Authors

  • Friend, SH; Horowitz, JM; Gerber, MR; Wang, XF; Bogenmann, E; Li, FP; Weinberg, RA

Published Date

  • December 1987

Published In

Volume / Issue

  • 84 / 24

Start / End Page

  • 9059 - 9063

PubMed ID

  • 3480530

Pubmed Central ID

  • PMC299691

International Standard Serial Number (ISSN)

  • 0027-8424

Digital Object Identifier (DOI)

  • 10.1073/pnas.84.24.9059


  • eng

Conference Location

  • United States