Human pathology

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RB

Functions

- Cell cycle regulation

In a resting cell, RB is a component of the E2F/DP1/RB complex, which represses gene transcription through the recruitment of histone deacetylase, an enzyme that alters the conformation of chromatin, making it more compact.

Phosphorylation of RB by cyclin D-CDK4 removes histone deacetylase from chromatin, allowing the activation of E2F transcriptional activity (RB can also be phosphorylated by cyclin E-CDK2).

E2F-mediated transcription of cyclins E and A, and of genes required for DNA replication, permit the passage through the G1 restriction point.

Tumor predisposition

- retinoblastoma
- post-radiation osteosarcoma

Pathology

- germline mutations in familial retinoblastoma
- germline and somatic mutations in sporadic retinoblastoma
- somatic mutations in post-radiation osteosarcoma
- inactivation of RB protein by HPV-E6 and HPV-E7 oncoproteins

Features

- RB/E2F pathway (P16(INK4A)-CDK4/6-RB)

References

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- Jones EE, Wells SI. Cervical cancer and human papillomaviruses: inactivation of retinoblastoma and other tumor suppressor pathways. Curr Mol Med. 2006 Nov;6(7):795-808. PMID: 17100604

- Wikenheiser-Brokamp KA. Retinoblastoma regulatory pathway in lung cancer. Curr Mol Med. 2006 Nov;6(7):783-93. PMID: 17100603

- Pacal M, Bremner R. Insights from animal models on the origins and progression of retinoblastoma. Curr Mol Med. 2006 Nov;6(7):759-81. PMID: 17100602

- Knudsen ES, Sexton CR, Mayhew CN. Role of the retinoblastoma tumor suppressor in the maintenance of genome integrity. Curr Mol Med. 2006 Nov;6(7):749-57. PMID: 17100601

- Dasgupta P, Padmanabhan J, Chellappan S. Rb function in the apoptosis and senescence of non-neuronal and neuronal cells: role in oncogenesis. Curr Mol Med. 2006 Nov;6(7):719-29. PMID: 17100598

- Delston RB, Harbour JW. Rb at the interface between cell cycle and apoptotic decisions. Curr Mol Med. 2006 Nov;6(7):713-8. PMID: 17100597

- Korenjak M, Brehm A. The retinoblastoma tumour suppressor in model organisms?new insights from flies and worms. Curr Mol Med. 2006 Nov;6(7):705-11. PMID: 17100596

- Liu H, Dibling B, Spike B, Dirlam A, Macleod K. New roles for the RB tumor suppressor protein. Curr Opin Genet Dev. 2004 Feb;14(1):55-64. PMID: 15108806

- Chau BN, Wang JY. Coordinated regulation of life and death by RB. Nat Rev Cancer. 2003 Feb;3(2):130-8. PMID: 12563312

- Classon M, Harlow E. The retinoblastoma tumour suppressor in development and cancer. Nat Rev Cancer. 2002 Dec;2(12):910-7. PMID: 12459729

- Nevins JR. The Rb/E2F pathway and cancer. Hum Mol Genet. 2001 Apr;10(7):699-703. PMID: 11257102

- Korenjak M, Brehm A. E2F-Rb complexes regulating transcription of genes important for differentiation and development. Curr Opin Genet Dev. 2005 Oct;15(5):520-7. PMID: 16081278

- Blais A, Dynlacht BD. Hitting their targets: an emerging picture of E2F and cell cycle control. Curr Opin Genet Dev. 2004 Oct;14(5):527-32. PMID: 15380244

- Nevins JR. The Rb/E2F pathway and cancer. Hum Mol Genet. 2001 Apr;10(7):699-703. PMID: 11257102