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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,...
Mutations01:39

Mutations

Overview
Mutations01:35

Mutations

Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
Spontaneous and Induced Mutations01:30

Spontaneous and Induced Mutations

Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).
Genetic Lingo01:11

Genetic Lingo

Overview

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Related Experiment Video

Updated: May 11, 2026

A Rhodopsin Transport Assay by High-Content Imaging Analysis
12:11

A Rhodopsin Transport Assay by High-Content Imaging Analysis

Published on: January 16, 2019

Genes and mutations causing retinitis pigmentosa.

S P Daiger1, L S Sullivan, S J Bowne

  • 1Human Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, TX 77030, USA. stephen.p.daiger@uth.tmc.edu

Clinical Genetics
|May 25, 2013
PubMed
Summary
This summary is machine-generated.

Identifying genetic mutations causing retinitis pigmentosa (RP) is key to developing treatments. Next-generation sequencing (NGS) advances gene discovery, but reevaluation is needed when genetic defects don't match clinical findings.

Keywords:
genetic screeninginherited retinal diseasesnext-generation sequencingphenotype-genotype reconciliationretinitis pigmentosatargeted-capture sequencing

Related Experiment Videos

Last Updated: May 11, 2026

A Rhodopsin Transport Assay by High-Content Imaging Analysis
12:11

A Rhodopsin Transport Assay by High-Content Imaging Analysis

Published on: January 16, 2019

Area of Science:

  • Ophthalmology
  • Genetics
  • Molecular Biology

Background:

  • Retinitis pigmentosa (RP) is a group of inherited retinal diseases with diverse genetic causes and clinical outcomes.
  • Effective treatments for RP depend on identifying the specific genes and mutations responsible.

Purpose of the Study:

  • To review current methods for gene discovery and mutation detection in RP.
  • To highlight challenges and unresolved issues in RP genetics.

Main Methods:

  • Utilizing high-throughput 'deep sequencing', specifically next-generation sequencing (NGS), for genetic testing.
  • Reviewing existing literature on gene discovery and mutation screening in inherited retinopathies.

Main Results:

  • NGS has successfully identified novel RP genes and detected mutations in 30-80% of cases, depending on RP type and technology.
  • A significant number of previously unexplained RP cases involve mutations in known retinal disease genes, not exclusively RP genes.
  • Discrepancies between molecular findings and clinical presentation necessitate patient and family reevaluation.

Conclusions:

  • Advances in genetic testing, particularly NGS, have improved mutation detection rates in RP.
  • Revisiting patients with apparent genetic-clinical discrepancies is crucial for accurate diagnosis and understanding disease mechanisms.
  • The principles discussed for RP are applicable to other inherited retinal diseases.