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Related Concept Videos

Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
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Agouti: A Lethal Allele
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Epigenetic changes alter the physical structure of the DNA without changing the genetic sequence and often regulate whether genes are turned on or off. This regulation ensures that each cell produces only proteins necessary for its function. For example, proteins that promote bone growth are not produced in muscle cells. Epigenetic mechanisms play an essential role in healthy development. Conversely, precisely regulated epigenetic mechanisms are disrupted in diseases like cancer.
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Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
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DNA replication is a well-evolved process that copies millions of base pairs with high fidelity during each cell division. Occasionally a wrong base or a long stretch of wrong bases may get added to the daughter strands. If the errors are left unchecked, cells might accumulate several mutations that might endanger their  survival. Therefore, the copying errors are checked and repaired at three levels.
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Epigenetics is the study of inherited changes in a cell's phenotype without changing the DNA sequences. It provides a form of memory for the differential gene expression pattern to maintain cell lineage, position-effect variegation, dosage compensation, and maintenance of chromatin structures such as telomeres and centromeres. For example, the structure and location of the centromere on chromosomes are epigenetically inherited. Its functionality is not dictated or ensured by the underlying...
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Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells
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Metastable epialleles in humans.

Maria Derakhshan1, Noah J Kessler2, Garrett Hellenthal3

  • 1London School of Hygiene and Tropical Medicine, London WC1E 7HT, UK.

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|November 24, 2023
PubMed
Summary

Metastable epialleles (MEs) show variable DNA methylation across individuals, consistent across tissues. These loci may link early environmental exposures to later health outcomes.

Keywords:
DNA methylationDOHaDearly embryometastable epiallele

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Area of Science:

  • Epigenetics
  • Genomics
  • Developmental Biology

Background:

  • Metastable epialleles (MEs) are DNA methylation loci exhibiting systemic interindividual variation (SIV).
  • SIV is characterized by variable DNA methylation between individuals, yet correlated across tissues from different germ layers within an individual.
  • This epigenetic phenomenon is hypothesized to arise from stochastic methylation establishment prior to germ layer differentiation.

Purpose of the Study:

  • To introduce key concepts of human metastable epialleles (MEs).
  • To describe methodologies for identifying MEs in human populations.
  • To review the genomic characteristics of human MEs and their association with environmental factors and phenotypes.

Main Methods:

  • Review of existing literature on metastable epialleles.
  • Description of techniques for identifying human MEs.
  • Analysis of genomic features and environmental associations of MEs.

Main Results:

  • Human MEs are identified and characterized by their unique DNA methylation patterns.
  • Evidence suggests certain MEs are sensitive to early-life environmental exposures.
  • Putative human MEs link early environmental influences to postnatal phenotypes, including disease susceptibility.

Conclusions:

  • Metastable epialleles represent a significant layer of epigenetic regulation with implications for human health.
  • Understanding MEs and their environmental sensitivity is crucial for deciphering developmental origins of disease.
  • Further research into human MEs can illuminate the interplay between epigenetics, environment, and phenotype.