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Mutations01:39

Mutations

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Mutations01:35

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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.
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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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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 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

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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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WNT10A mutations causing oligodontia.

Haemin Park1, Ji-Soo Song1, Teo Jeon Shin1

  • 1Department of Pediatric Dentistry & Dental Research Institute, School of Dentistry, Seoul National University, Seoul, Republic of Korea.

Archives of Oral Biology
|May 20, 2019
PubMed
Summary

Genetic analysis identified compound heterozygous WNT10A mutations in families with non-syndromic oligodontia, a condition of missing teeth. This finding advances understanding of tooth development and WNT10A-related disorders.

Keywords:
MutationNon-syndromicOligodontiaWNT10AWhole-exome sequencing

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Area of Science:

  • Genetics
  • Developmental Biology
  • Oral Health

Background:

  • Non-syndromic oligodontia is a congenital condition characterized by the absence of multiple permanent teeth.
  • The genetic underpinnings of non-syndromic oligodontia are not fully understood, necessitating further research into causative genes.
  • Understanding the molecular basis of tooth development is crucial for addressing dental anomalies.

Purpose of the Study:

  • To determine the molecular genetic cause of non-syndromic oligodontia in affected families.
  • To investigate the role of specific gene mutations in the etiology of tooth agenesis.
  • To contribute to the knowledge of genetic factors influencing human odontogenesis.

Main Methods:

  • Whole-exome sequencing was performed on genomic DNA from affected families.
  • Bioinformatic analyses were employed to identify genetic variations, including single nucleotide variations and short insertions/deletions.
  • Identified variations were annotated using the dbSNP database.

Main Results:

  • Compound heterozygous mutations in the WNT10A gene were identified in two families with non-syndromic oligodontia.
  • Specific mutations found include c.364A>T and c.511C>T in family 1, and c.364A>T and c.637G>A in family 2.
  • Affected individuals presented with varying numbers of missing permanent teeth.

Conclusions:

  • The study demonstrates that compound heterozygous WNT10A missense mutations are associated with non-syndromic oligodontia.
  • These findings enhance the understanding of odontogenesis and the pathogenesis of WNT10A-related developmental defects.
  • The identified mutations provide insights into the genetic etiology of tooth agenesis.