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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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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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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 in Microorganisms01:18

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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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Mutations in PERP Cause Dominant and Recessive Keratoderma.

Sabine Duchatelet1, Lynn M Boyden2, Akemi Ishida-Yamamoto3

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Mutations in PERP, a desmosome component, cause human keratoderma. Different PERP mutations lead to Olmsted syndrome or erythrokeratoderma, impacting epidermal homeostasis and cell adhesion.

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Area of Science:

  • Dermatology
  • Genetics
  • Cell Biology

Background:

  • Mendelian skin disorders offer insights into epidermal biology.
  • Desmosomes are critical for epidermal structure and function.

Purpose of the Study:

  • To investigate the role of PERP in human skin disorders.
  • To identify genetic causes of inherited keratoderma.

Main Methods:

  • Genetic analysis of patients with keratoderma.
  • Protein analysis of PERP mutations.
  • Electron microscopy of skin biopsies.
  • Assessment of intercellular adhesion.

Main Results:

  • Mutations in PERP cause both dominant (Olmsted syndrome) and recessive (erythrokeratoderma) keratoderma.
  • PERP mutations lead to epidermal hyperproliferation and impaired desmosome formation.
  • Electron microscopy reveals immature desmosomes lacking a dense midline.

Conclusions:

  • PERP is essential for human desmosome integrity and epidermal homeostasis.
  • PERP mutations expand the spectrum of inherited keratinization disorders.
  • Understanding PERP function provides new insights into skin barrier diseases.