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Molecular genetics of the retinoblastoma suppressor gene

R Bookstein1, W H Lee

  • 1Center for Molecular Medicine, University of Texas Health Science Center, San Antonio 78284-6250.

Critical Reviews in Oncogenesis
|January 1, 1991
PubMed

Insights

The retinoblastoma gene (RB) is a tumor suppressor gene. Loss-of-function mutations in RB are oncogenic, contributing to various cancers beyond retinoblastoma.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • The retinoblastoma gene (RB) is a key tumor suppressor gene.
  • Loss-of-function mutations in RB are oncogenic, contributing to tumor formation.
  • Classical genetic studies of retinoblastoma provided the foundation for RB gene cloning.

Purpose of the Study:

  • To investigate the role of the retinoblastoma gene (RB) in human oncogenesis.
  • To explore the function of the RB gene product, pp110RB.
  • To understand the involvement of RB in cell cycle regulation.

Main Methods:

  • Classical genetic and cytogenetic studies.
  • Molecular cloning of the RB gene.
  • Functional assays using tumor cells with mutated RB alleles.

Main Results:

  • RB gene mutations are found in retinoblastomas and other cancers like osteosarcomas, breast, lung, and prostate carcinomas.
  • Wild-type RB can suppress neoplastic properties in tumor cells with mutated RB.
  • The RB gene product, pp110RB, is a nuclear phosphoprotein involved in cell cycle regulation.

Conclusions:

  • The retinoblastoma gene (RB) plays a broad role in human oncogenesis.
  • RB protein's function in cell cycle regulation is critical for tumor suppression.
  • RB mutations are significant in the development of various human cancers.

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