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X-Inactivation01:58

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The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
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The measures of central tendency calculated from a data set may not reveal much about its intrinsic distribution. If a plot is made of the data set’s values, the mean and the median may not only differ, but also the plot may have more values on one side of the central tendencies. Such a data set is said to be skewed towards that side.
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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 Novel AMELX Mutation, Its Phenotypic Features, and Skewed X Inactivation.

X Duan1, S Yang1, H Zhang1

  • 11 Department of Oral Biology, Clinic of Oral Rare and Genetic Diseases, School of Stomatology, Air Force Military Medical University (the Fourth Military Medical University), Xi'an, China.

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|June 12, 2019
PubMed
Summary

This study identifies a novel AMELX gene mutation causing Amelogenesis Imperfecta (AI) in a Chinese family. It highlights how X-inactivation skewing influences AI

Keywords:
amelogenesis imperfectaamelogeninexome analysisheterogeneitylyonizationultrastrure

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Area of Science:

  • Genetics
  • Dentistry
  • Molecular Biology

Background:

  • Amelogenesis imperfecta (AI) encompasses genetic disorders affecting dental enamel formation.
  • Mutations in the AMELX gene, encoding amelogenin on the X chromosome, are a primary cause of AI.

Purpose of the Study:

  • To investigate the genetic basis of AI in a Chinese family.
  • To characterize the phenotype associated with a novel AMELX mutation.
  • To explore the role of X-inactivation skewing in AI phenotypic variability.

Main Methods:

  • Whole exome sequencing to identify genetic mutations.
  • Polymerase chain reaction and sequencing to confirm mutations.
  • Scanning electron microscopy to analyze enamel structure.
  • Androgen receptor allele methylation assay to measure X-inactivation skewing.

Main Results:

  • A novel homozygous c.185delC mutation in AMELX was identified in the proband, causing a frameshift mutation (p.Pro62Argfs*47).
  • The proband and her hemizygous father exhibited severe enamel defects.
  • The heterozygous mother displayed mosaic enamel phenotypes, correlating with a 25:75 X-inactivation skewing.

Conclusions:

  • This study reports a novel AMELX mutation causing Amelogenesis Imperfecta.
  • Phenotypic variability in heterozygous carriers is linked to X-inactivation skewing.
  • This research offers insights into genotype-phenotype correlations in X-linked AI.