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Related Concept Videos

Mismatch Repair01:20

Mismatch Repair

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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.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
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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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Updated: Apr 23, 2026

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Detecting somatic mosaicism: considerations and clinical implications.

A S A Cohen1, S L Wilson, J Trinh

  • 1Department of Medical Genetics, University of British Columbia, Vancouver, Canada; Child and Family Research Institute, Vancouver, Canada.

Clinical Genetics
|September 17, 2014
PubMed
Summary
This summary is machine-generated.

Somatic mosaicism, genetic variations within an individual, explains disease variability. Advances in high-throughput sequencing improve detection, aiding differentiation between normal variation and disease-causing mosaicism.

Keywords:
Mendelian disordersaneuploidycancergenetic alterationgenetic variationhigh-throughput sequencingreversionsomatic mosaicismsomatic mutation

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Area of Science:

  • Genetics
  • Human Disease
  • Molecular Biology

Background:

  • Human diseases exhibit variable expressivity, partly due to somatic mosaicism, which involves genetic alterations occurring at various developmental stages.
  • Somatic mosaicism can manifest as congenital anomalies or contribute to late-onset conditions like cancer.
  • Historically, detecting low-level somatic mosaicism was challenging due to limitations in diagnostic test resolution.

Purpose of the Study:

  • To define somatic mosaicism and its underlying mechanisms.
  • To discuss the impact of next-generation sequencing (NGS) on detecting somatic mosaicism.
  • To explore the clinical implications of identifying somatic mosaicism.

Main Methods:

  • Review of mechanisms of somatic mosaicism.
  • Discussion of clinical examples.
  • Analysis of next-generation sequencing technologies for mosaicism detection.

Main Results:

  • Somatic mosaicism arises from diverse genetic alterations throughout development.
  • High-throughput sequencing technologies have significantly enhanced the detection of mosaicism at lower levels.
  • Distinguishing between normal genetic variation and pathogenic mosaicism is a growing clinical challenge.

Conclusions:

  • Somatic mosaicism is a significant contributor to human disease variability.
  • Advances in sequencing technologies are revolutionizing the diagnosis and understanding of mosaicism.
  • Clinical interpretation of somatic mosaicism requires careful consideration of its implications for disease and health.