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Related Concept Videos

Mutations01:35

Mutations

31.3K
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.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
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Mutations01:39

Mutations

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Mutations01:39

Mutations

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Mutations in Microorganisms01:18

Mutations in Microorganisms

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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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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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Mismatch Repair01:36

Mismatch Repair

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Related Experiment Video

Updated: May 5, 2026

Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells
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Engineering Oncogenic Heterozygous Gain-of-Function Mutations in Human Hematopoietic Stem and Progenitor Cells

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[Gene mutations; up date].

Masanori Nakagawa1

  • 1Kyoto Prefectural University of Medicine, North Medical Center.

Rinsho Shinkeigaku = Clinical Neurology
|December 3, 2013
PubMed
Summary

Next-generation sequencing (NGS) advances human genome analysis, accelerating biomedical research and disease gene discovery. This progress, alongside regenerative medicine, promises clinical practice shifts, necessitating ethical discussions.

Area of Science:

  • Genomics
  • Biomedical Research

Context:

  • Advancements in sequencing technology, particularly next-generation sequencing (NGS), have revolutionized human genome analysis.
  • The availability of approximately 2,900 causative gene tests facilitates genetic diagnostics.

Purpose:

  • To highlight the impact of advanced sequencing technologies on biomedical research.
  • To discuss the implications of genetic discoveries for understanding and treating hereditary and common diseases.
  • To emphasize the need for ethical considerations in the era of personal genomics.

Summary:

  • Next-generation sequencing (NGS) has significantly accelerated biomedical research by enabling comprehensive human genome and exome analysis.
  • Discoveries of causative genes for hereditary neurodegenerative diseases and susceptibility genes for common diseases through methods like Genome-Wide Association Studies (GWAS) are advancing pathophysiological understanding and therapeutic strategies.

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  • The integration of genome analysis with regenerative medicine (ES and iPS) is poised to transform clinical practice.

    • Impact:

    • Accelerated discovery of disease-causing genes and susceptibility genes.
    • Enhanced understanding of disease mechanisms and development of targeted therapies.
    • Potential paradigm shift in clinical practice driven by genomic insights and regenerative medicine.
    • Urgent need for nationwide discussion on biomedical ethics concerning personal genome data.