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Nondisjunction01:21

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Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
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During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.
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Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...
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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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Somatic point mutations occurring early in development: a monozygotic twin study.

Rui Li1, Alexandre Montpetit, Marylène Rousseau

  • 1Departments of Medicine, Human Genetics, Epidemiology and Biostatistics, McGill University, Montreal, Quebec, Canada.

Journal of Medical Genetics
|October 15, 2013
PubMed
Summary
This summary is machine-generated.

Early somatic mutations occur in healthy individuals, leading to genomic differences between identical twins. These findings suggest a significant burden of mutations across a human lifespan.

Keywords:
genetic discordancegenome-wide genotypingmonozygotic twinsnext-generation sequencingsomatic mutation

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Area of Science:

  • Genetics
  • Developmental Biology
  • Human Genomics

Background:

  • Somatic driver mutations are key targets in cancer therapy.
  • Genomic discoveries in oncology have not translated to non-cancerous diseases due to single-cell mutation rarity.
  • Early developmental mutations could impact large cell populations, potentially causing non-malignant disease.

Purpose of the Study:

  • To investigate the occurrence of early-onset somatic mutations in human development.
  • To identify base-pair mutations present in one monozygotic twin but absent in the other.
  • To assess evidence for mosaicism as a marker for mutation timing.

Main Methods:

  • Genome-wide genotyping of 66 monozygotic twin pairs using 506,786 single nucleotide polymorphisms (SNPs).
  • Verification of discrepant SNPs via Sanger sequencing.
  • Mosaicism assessment using high-depth next-generation sequencing (20,000x coverage).

Main Results:

  • Two de novo somatic mutations were confirmed in white blood cells.
  • Mutation frequency determined to be 1.2×10⁻⁷ mutations per nucleotide.
  • Limited mosaicism observed, indicating early embryonic origin of mutations.

Conclusions:

  • Provides direct evidence for the occurrence of early somatic point mutations.
  • Demonstrates that such mutations can create genomic differences between identical twins.
  • Suggests a substantial burden of somatic mutations throughout the human lifespan.