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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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Covalently Linked Protein Regulators02:04

Covalently Linked Protein Regulators

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Proteins can undergo many types of post-translational modifications, often in response to changes in their environment. These modifications play an important role in the function and stability of these proteins. Covalently linked molecules include functional groups, such as methyl, acetyl, and phosphate groups, and also small proteins, such as ubiquitin. There are around 200 different types of covalent regulators that have been identified.
These groups modify specific amino acids in a protein....
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Viral Mutations00:36

Viral Mutations

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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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X-linked Traits01:19

X-linked Traits

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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

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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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Related Experiment Video

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Quantification of Colonic Stem Cell Mutations
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Expanded PCH1D phenotype linked to EXOSC9 mutation.

Sami Bizzari1, Abdul Rezzak Hamzeh2, Madiha Mohamed3

  • 1Centre for Arab Genomic Studies, P.O. Box 22252, Dubai, United Arab Emirates.

European Journal of Medical Genetics
|January 29, 2019
PubMed
Summary

Pontocerebellar Hypoplasia type 1 (PCH1) is a severe neurodegenerative disorder. A specific EXOSC9 gene mutation can cause a milder PCH1 phenotype with distinct neurological and metabolic features.

Keywords:
EXOSC9NeurodegenerativePCH1PCH1DPontocerebellar hypoplasia

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Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Pontocerebellar Hypoplasia type 1 (PCH1) is a rare, heterogeneous neurodegenerative disorder.
  • PCH1 subtypes are linked to exosome complex dysfunction, often resulting in severe phenotypes.
  • Previous studies identified severe PCH1D cases linked to EXOSC9 variants.

Purpose of the Study:

  • To clinically and molecularly characterize two unrelated patients with a milder PCH1 phenotype.
  • To investigate the role of EXOSC9 gene mutations in PCH1.
  • To review the clinical spectrum of EXOSC9-related PCH disorders.

Main Methods:

  • Clinical evaluation of patients.
  • Molecular genetic analysis, including sequencing of the EXOSC9 gene.
  • Literature review of previously reported EXOSC9-related PCH cases.

Main Results:

  • Identified a recurring homozygous missense mutation (NM_001034194.1: c.41T>C; p.(Leu14Pro)) in the EXOSC9 gene in both patients.
  • Patients presented with a milder phenotype including hypotonia, brachycephaly, cerebellar atrophy, psychomotor delay, lactic acidosis, and aberrant CNS myelination.
  • This contrasts with previously reported severe PCH1D phenotypes associated with other EXOSC9 variants.

Conclusions:

  • The homozygous p.(Leu14Pro) mutation in EXOSC9 is associated with a milder form of Pontocerebellar Hypoplasia type 1.
  • EXOSC9 mutations contribute to a spectrum of PCH phenotypes, ranging from severe to milder presentations.
  • Further research is needed to understand the genotype-phenotype correlations in EXOSC9-related PCH disorders.