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Related Concept Videos

Nucleotide Excision Repair01:38

Nucleotide Excision Repair

DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
Mismatch Repair01:20

Mismatch Repair

Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase01:27

Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase

Phase II biotransformation reactions are essential for detoxifying and eliminating xenobiotics, including many pharmaceutical compounds. These reactions typically involve conjugation, the covalent attachment of polar endogenous groups such as glucuronic acid, sulfate, methyl, or acetyl moieties to functional groups introduced during Phase I metabolism. The resulting conjugates are more water-soluble, enabling efficient renal or biliary excretion.The major classes of Phase II enzymes include...
Alternative RNA Splicing02:18

Alternative RNA Splicing

Alternative RNA splicing is the regulated splicing of exons and introns to produce different mature mRNAs from a single pre-mRNA. Unlike in constitutive splicing where a single gene produces a single type of mRNA, alternative splicing allows an organism to produce multiple proteins from a single gene and plays an important role in protein diversity.
There are five types of alternative RNA splicing that vary in the ways the pre-mRNA segments are removed or retained in the mature mRNA. The first...
Mutations01:39

Mutations

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A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants
06:35

A Scalable, Cell-Based Method for the Functional Assessment of Ube3a Variants

Published on: October 10, 2022

Non-USH2A mutations in USH2 patients.

Thomas Besnard1, Christel Vaché, David Baux

  • 1CHU Montpellier, Laboratoire de Génétique Moléculaire, Montpellier, France.

Human Mutation
|December 8, 2011
PubMed
Summary
This summary is machine-generated.

Mutations in the GPR98 gene significantly contribute to Usher syndrome type 2 (USH2), with new findings doubling reported mutations. Analysis of DFNB31 and GPR98 provides a robust diagnostic pathway for USH2 patients.

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Published on: September 27, 2024

Area of Science:

  • Genetics
  • Ophthalmology
  • Audiology

Background:

  • Usher syndrome type 2 (USH2) is a genetic disorder causing hearing and vision loss.
  • USH2A is the primary gene associated with USH2, but other genes also play a role.

Purpose of the Study:

  • To investigate the role of minor genes DFNB31 and GPR98 in Usher syndrome type 2 (USH2) in patients negative for USH2A mutations.
  • To characterize the mutational spectrum of GPR98 and DFNB31 in USH2.
  • To establish a comprehensive molecular diagnostic approach for USH2.

Main Methods:

  • Systematic mutation analysis of DFNB31 and GPR98 in 31 USH2 patients.
  • PDZD7 gene analysis when indicated.
  • Splicing reporter minigene assay to confirm splicing alterations.

Main Results:

  • Mutations in GPR98 were found to be a significant cause of USH2, with 17 mutations identified in 10 individuals, doubling previously reported mutations.
  • The majority of GPR98 mutations lead to truncated protein products, differing from USH2A.
  • Only two patients had mutations in DFNB31, indicating a minor contribution to USH2.
  • Patients without mutations in USH2A, GPR98, or DFNB31 often presented with atypical features.

Conclusions:

  • GPR98 is a significant contributor to Usher syndrome type 2 (USH2) pathogenesis.
  • DFNB31 mutations play a minimal role in USH2.
  • Analysis of USH2A, GPR98, and DFNB31 covers the vast majority of USH2 cases and is crucial for molecular diagnosis.