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Mutations

Mutations

Mutations

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...

Mutations

Mutations

Mismatch Repair

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...

Mismatch Repair

Mismatch Repair

Alternative RNA Splicing

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...

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Related Experiment Video

Updated: Jul 11, 2026

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells

Published on: February 24, 2014

Hematologically important mutations: Shwachman-Diamond syndrome.

Elísio Costa¹, Rosário Santos

¹Escola Superior de Saúde, Instituto Politécnico de Bragança, Avenida D. Afonso V, 5300-121 Bragança, Portugal. elisio.costa@ipb.pt

Blood Cells, Molecules & Diseases

|October 6, 2007

Summary

Shwachman-Diamond syndrome (SDS) is a rare genetic disorder. This report summarizes documented mutations in the Shwachman-Bodian-Diamond syndrome (SBDS) gene linked to SDS.

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Analysis of Somatic Hypermutation in the JH4 intron of Germinal Center B cells from Mouse Peyer's Patches

Analysis of Somatic Hypermutation in the JH4 intron of Germinal Center B cells from Mouse Peyer's Patches

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Last Updated: Jul 11, 2026

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells

Identifying DNA Mutations in Purified Hematopoietic Stem/Progenitor Cells

Published on: February 24, 2014

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

Analysis of Somatic Hypermutation in the JH4 intron of Germinal Center B cells from Mouse Peyer's Patches

Analysis of Somatic Hypermutation in the JH4 intron of Germinal Center B cells from Mouse Peyer's Patches

Published on: April 20, 2021

Area of Science:

Genetics
Molecular Biology
Pediatric Medicine

Background:

Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder.
Key features include exocrine pancreatic insufficiency, bone marrow dysfunction, and skeletal abnormalities.
The Shwachman-Bodian-Diamond syndrome (SBDS) gene is implicated in SDS.

Purpose of the Study:

To provide a comprehensive summary of documented mutations in the SBDS gene associated with SDS.
To consolidate recent genetic findings in SDS research.

Main Methods:

Literature review of genetic analyses performed on SDS patients.
Compilation and summary of reported SBDS gene mutations over the last four years.

Main Results:

Numerous distinct mutations affecting the SBDS gene have been identified.
This report details these documented SDS-associated mutations.

Conclusions:

Understanding SBDS gene mutations is crucial for diagnosing and potentially treating SDS.
Continued genetic research is essential for a comprehensive understanding of SDS pathogenesis.