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Article

Allele-specific hypermethylation of the retinoblastoma tumor-suppressor gene.

American journal of human genetics - 1 May 1991

Sakai T, Toguchida J, Ohtani N, Yandell D W, Rapaport J M, Dryja T P

Abstract excerpt

Inactivation of the retinoblastoma gene appears to have a fundamental role in the genesis of retinoblastoma, osteosarcoma, and other malignant tumors. The gene is generally inactivated because of loss-of-function mutations, although epigenetic phenomena, such as hypermethylation of the promoter region, could possibly have the same effect. We investigated the methylation pattern at the 5' end of the retinoblastoma...

Topics

Alleles
Base Sequence
DNA Mutational Analysis
Gene Expression Regulation, Neoplastic
Genes, Retinoblastoma
Humans
Methylation
Molecular Sequence Data
Polymorphism, Restriction Fragment Length
Promoter Regions, Genetic

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Identifiers

PMID: 1673287
PMCID: PMC1683063

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1673287-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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