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Related Concept Videos

The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Abnormal Proliferation02:23

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The Ras Gene02:38

The Ras Gene

The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a superfamily...
Rous Sarcoma Virus (RSV) and Cancer01:03

Rous Sarcoma Virus (RSV) and Cancer

Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
RSV is a retrovirus that contains two copies of a plus-strand  RNA genome. Its genome consists of four main open...
Rous Sarcoma Virus (RSV) and Cancer01:03

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Rous Sarcoma virus or RSV was discovered by F. Peyton Rous in the year 1911 as a filterable transmissible agent that could cause tumors in chickens. He won a Nobel Prize for this discovery in 1966. His experiments clearly demonstrated that some cancers could be caused by infectious agents and led to the discovery of many more cancer-causing viruses in animals as well as humans.
RSV is a retrovirus that contains two copies of a plus-strand  RNA genome. Its genome consists of four main open...

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Related Experiment Video

Updated: Jun 12, 2026

Reconstruct Human Retinoblastoma In Vitro
06:52

Reconstruct Human Retinoblastoma In Vitro

Published on: October 11, 2022

One hotspot RB1 mutation disrupt RB1 function founded in a Chinese patient.

Yan Liu1,2, Kexin Ren1,2, Fanglin He1,2

  • 1Department of Ophthalmology, Ninth People's Hospital, Shanghai JiaoTong University School of Medicine, Shanghai, China.

Frontiers in Oncology
|June 11, 2026
PubMed
Summary

This study analyzes the RB1 p.E125* mutation in retinoblastoma, revealing abnormal cell functions. Identifying its somatic origin is crucial for genetic counseling and understanding mutation hotspots.

Keywords:
Rb1hotspotmutationp.E125*retinoblastoma

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Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Retinoblastoma is a common childhood intraocular cancer.
  • The RB1 gene is critical in heritable retinoblastoma.
  • The RB1 p.E125* mutation's function was previously uncharacterized.

Purpose of the Study:

  • To investigate the functional impact of the RB1 p.E125* mutation.
  • To analyze the mutation's distribution, localization, and cellular effects.
  • To contribute to understanding RB1 mutation hotspots and inform genetic testing.

Main Methods:

  • Identified RB1 p.E125* mutation in a bilateral retinoblastoma patient.
  • Utilized molecular biology and structural analysis.
  • Transfected cells with plasmids encoding the mutant RB1 gene.

Main Results:

  • Mutant RB1 plasmids caused abnormal protein localization.
  • Observed altered cell cycle distribution in transfected cells.
  • Detected increased apoptosis in cells with the mutant RB1 gene.

Conclusions:

  • The RB1 p.E125* mutation affects protein localization, cell cycle, and apoptosis.
  • Findings enhance understanding of RB1 mutation hotspots.
  • Results emphasize targeted genetic testing and counseling for families with RB1 mutations.