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Related Concept Videos

Spontaneous and Induced Mutations01:30

Spontaneous and Induced Mutations

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Spontaneous mutations arise infrequently during DNA replication due to errors in the process. A key factor behind these errors is tautomeric shifts in nitrogenous bases, where bases transition from keto to enol forms or amino to imino forms. This shift can alter base-pairing rules, leading to mutations. Additionally, reactive oxygen species (ROS) arising from aerobic metabolism can damage DNA, resulting in depurination (loss of a purine base) or depyrimidination (loss of a pyrimidine base).
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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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Mutations01:39

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Gene Conversion02:08

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Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
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Covalently Linked Protein Regulators02:04

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Proteins can undergo many types of post-translational modifications, often in response to changes in their environment. These modifications play an important role in the function and stability of these proteins. Covalently linked molecules include functional groups, such as methyl, acetyl, and phosphate groups, and also small proteins, such as ubiquitin. There are around 200 different types of covalent regulators that have been identified.
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Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms
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Mutational Signatures: From Methods to Mechanisms.

Yoo-Ah Kim1, Mark D M Leiserson2, Priya Moorjani3

  • 1National Center of Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, Maryland 20894, USA;

Annual Review of Biomedical Data Science
|September 1, 2021
PubMed
Summary
This summary is machine-generated.

Mutations drive evolution and disease, arising from DNA errors and damage. Advanced sequencing and computational methods now allow detailed study of these mutational processes.

Keywords:
cancercancer evolutioncomputational modelsmutagenic processesmutational signaturespopulation genetics

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Area of Science:

  • Genetics and Molecular Biology
  • Evolutionary Biology
  • Cancer Research

Background:

  • Mutations are fundamental to evolution but also cause diseases like cancer.
  • They originate from DNA processing errors, natural DNA damage, and impaired DNA repair.
  • The study of mutational processes has rapidly advanced since 2012.

Purpose of the Study:

  • To explore the origins and mechanisms of mutations.
  • To highlight the role of mutations in disease, particularly cancer.
  • To discuss the impact of high-throughput sequencing on this research field.

Main Methods:

  • Utilizing high-throughput sequencing to generate large-scale genomic datasets.
  • Applying computational approaches to analyze mutational signatures and processes.
  • Investigating the interplay between DNA processing, damage, and repair.

Main Results:

  • Identified various sources contributing to mutation occurrence.
  • Demonstrated the significance of mutational processes in understanding disease etiology.
  • Showcased the power of genomic data in dissecting complex biological questions.

Conclusions:

  • Mutational processes are key to understanding both evolution and disease.
  • High-throughput sequencing and computational tools have revolutionized the study of mutations.
  • This field holds significant promise for future biomedical applications.