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Related Concept Videos

Modern Molecular Taxonomy01:29

Modern Molecular Taxonomy

Advancements in molecular biology have revolutionized the identification and characterization of bacteria, with multiple methods leveraging DNA sequencing for enhanced precision. As sequencing technologies improve and costs decline, these approaches are increasingly used in clinical, environmental, and evolutionary studies.Multilocus Sequence Typing (MLST) examines several housekeeping genes, essential chromosomal genes encoding cellular functions, to distinguish strains. Approximately...
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...
Mutations in Microorganisms01:18

Mutations in Microorganisms

Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
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...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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...

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Toward a mtDNA locus-specific mutation database using the LOVD platform.

Joanna L Elson1, Mary G Sweeney, Vincent Procaccio

  • 1Mitochondrial Research Group, Institute for Ageing and Health, The Medical School, Newcastle University, Newcastle upon Tyne, United Kingdom. joanna.elson@ncl.ac.uk

Human Mutation
|May 15, 2012
PubMed
Summary
This summary is machine-generated.

A new Locus Specific Mutation Database (LSDB) using the Leiden Open-source Variation Database (LOVD) system can improve the identification of pathogenic mitochondrial DNA (mtDNA) mutations. This database links genetic variation to observed phenotypes, enhancing understanding of mtDNA diseases.

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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Area of Science:

  • Genetics
  • Bioinformatics
  • Medical Genetics

Background:

  • Mitochondrial DNA (mtDNA) mutations are a significant cause of human neurogenetic diseases.
  • Identifying pathogenic mtDNA mutations and their link to disease phenotypes is challenging.
  • Existing databases may not adequately capture the complex genotype-phenotype correlations in mtDNA disorders.

Purpose of the Study:

  • To propose a novel Locus Specific Mutation Database (LSDB) for mitochondrial DNA (mtDNA) variation.
  • To enhance the understanding and diagnosis of mtDNA-related diseases.
  • To facilitate the linkage of genetic variation with clinical phenotypes.

Main Methods:

  • Implementation of a Locus Specific Mutation Database (LSDB) utilizing the Leiden Open-source Variation Database (LOVD) platform.
  • Integration of primary mutation data with supporting evidence for pathogenicity.
  • Inclusion of observed phenotypic information alongside genetic variation data.

Main Results:

  • The proposed LOVD-based LSDB can store and query both genetic variants and associated phenotypes.
  • The system supports the integration of data from high-throughput sequencing.
  • It enables the creation of a secure and comprehensive mtDNA variation database.

Conclusions:

  • A dedicated mtDNA LSDB built on the LOVD platform can overcome current challenges in mutation identification.
  • Linking genotype with phenotype in mtDNA disease will improve diagnostic accuracy and prognostic information.
  • This approach supports the Human Variome Project's goal of curating all human genetic variation affecting health.