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Related Concept Videos

Mutations01:39

Mutations

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Overview
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Mutations01:35

Mutations

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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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Viral Mutations00:36

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A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
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Mutation, Gene Flow, and Genetic Drift01:09

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In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
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Point and Frameshift Mutations01:30

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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...
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Mutations in Microorganisms01:18

Mutations in Microorganisms

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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,...
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High-Throughput Metabolic Profiling for Model Refinements of Microalgae
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Refining the phenotype associated with biallelic DNAJC21 mutations.

G D'Amours1,2, F Lopes3,4,5, J Gauthier6

  • 1Service de Génétique Médicale, CHU Sainte-Justine, Montréal, Canada.

Clinical Genetics
|April 28, 2018
PubMed
Summary
This summary is machine-generated.

Mutations in DNAJC21 cause a distinct inherited bone marrow failure syndrome (IBMFS). This condition presents with bone marrow failure and multisystemic features, requiring careful clinical evaluation and follow-up.

Keywords:
BMFS3bone marrow failure syndromefounder effectgenomic instabilitygenotype-phenotypemanagementnatural historyribosometelomere

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Area of Science:

  • Genetics
  • Hematology
  • Molecular Biology

Background:

  • Inherited bone marrow failure syndromes (IBMFS) arise from mutations affecting genomic stability.
  • DNAJC21, a gene involved in ribosome biogenesis, has been recently associated with bone marrow failure.
  • The precise clinical phenotype and natural history of DNAJC21-related disorders are not fully defined.

Purpose of the Study:

  • To correlate molecular data, phenotype, and clinical history of patients with DNAJC21 mutations.
  • To define the specific features and natural history of DNAJC21-related inherited bone marrow failure syndromes.
  • To establish a clinical evaluation checklist for DNAJC21-related IBMFS.

Main Methods:

  • Retrospective analysis of 5 unreported pediatric cases with DNAJC21 mutations.
  • Literature review and correlation of molecular data, phenotype, and clinical history from all reported individuals.
  • Comparative analysis with known IBMFS, such as Shwachman-Diamond syndrome and Dyskeratosis congenita.

Main Results:

  • Patients consistently exhibit features of IBMFS, including bone marrow failure, growth retardation, developmental delay, recurrent infections, and abnormalities of skin, teeth, or hair.
  • Additional observed features include retinal, pancreatic, liver, and skeletal abnormalities, joint hypermobility, and cryptorchidism.
  • DNAJC21 mutations appear to cause a distinct IBMFS with overlapping and unique characteristics compared to other known syndromes.

Conclusions:

  • DNAJC21-related disorders represent a distinct entity within the spectrum of inherited bone marrow failure syndromes.
  • The condition shares features with Shwachman-Diamond syndrome and Dyskeratosis congenita but possesses unique clinical manifestations.
  • Further case reports are necessary to fully elucidate the phenotypic spectrum, natural history, and optimal management strategies for this condition.