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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

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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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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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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Point and Frameshift Mutations01:30

Point and Frameshift Mutations

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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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Quantification of Colonic Stem Cell Mutations
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Dysosteosclerosis is also caused by TNFRSF11A mutation.

Long Guo1, Nursel H Elcioglu2,3, Ozge K Karalar2

  • 1Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo, 108-8639, Japan.

Journal of Human Genetics
|March 24, 2018
PubMed
Summary

Dysosteosclerosis, a rare bone disease, is linked to a novel TNFRSF11A gene mutation. This finding identifies a second gene associated with this condition, offering new insights into skeletal development.

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Area of Science:

  • Genetics
  • Skeletal Biology
  • Rare Diseases

Background:

  • Dysosteosclerosis (DOS) is an autosomal recessive sclerosing bone disease.
  • Genetic heterogeneity is suspected in DOS, with SLC29A3 mutations identified in some families.

Observation:

  • Whole-exome sequencing identified a novel splice-site mutation (c.616+3A>G) in the TNFRSF11A gene in a Turkish DOS patient.
  • The mutation affects the splice donor site of intron 6, leading to exon 6 skipping and predicted frameshift/premature termination.

Findings:

  • This study identifies TNFRSF11A as the second gene associated with Dysosteosclerosis.
  • The identified mutation causes distinct TNFRSF11A isoforms compared to previously reported mutations, potentially explaining phenotypic differences.

Implications:

  • This discovery expands the genetic landscape of Dysosteosclerosis.
  • Understanding TNFRSF11A isoforms' roles in skeletal development and metabolism is crucial for future research and therapeutic strategies.