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Related Concept Videos

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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To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.
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Spontaneous and Induced Mutations01:30

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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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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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The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
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Ribosome Profiling02:24

Ribosome Profiling

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Ribosome profiling or ribo-sequencing is a deep sequencing technique that produces a snapshot of active translation in a cell. It selectively sequences the mRNAs protected by ribosomes to get an insight into a cell’s translation landscape at any given point in time.
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Implementation of In Vitro Drug Resistance Assays: Maximizing the Potential for Uncovering Clinically Relevant Resistance Mechanisms
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Functional residuomics - analyzing how missense mutations impact cellular systems.

Guangshuo Ou1,2,3,4,5

  • 1Tsinghua-Peking Center for Life Sciences , Tsinghua University, Beijing 100084, China.

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|July 7, 2025
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Summary
This summary is machine-generated.

Functional residuomics studies how amino acid changes affect protein function, moving beyond gene mutations. This approach links small sequence changes to cellular and tissue traits, aiding precision medicine.

Keywords:
Functional residuomics

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Area of Science:

  • Biochemistry and Molecular Biology
  • Genetics and Genomics
  • Systems Biology

Background:

  • Traditional genetics focuses on gene-level mutations.
  • Functional residuomics examines the impact of individual amino acid residue alterations on protein function and cellular processes.
  • Understanding residue-level changes is crucial for deciphering complex biological systems.

Purpose of the Study:

  • To highlight the paradigm shift from gene-centric to residue-centric analysis in understanding protein function.
  • To emphasize the potential of functional residuomics in linking atomic-scale alterations to cellular and organismal phenotypes.
  • To discuss the implications of residuomics for clinical diagnostics and therapeutic development.

Main Methods:

  • Systematic examination of missense mutations across the proteome.
  • Integration of mutagenesis techniques with high-throughput phenotyping.
  • Application of advanced genetic tools like saturation genome editing (SGE) and multiplexed assays of variant effect (MAVEs).

Main Results:

  • Residuomics connects small amino acid sequence changes to organelle dynamics and tissue phenotypes.
  • This approach bridges the gap between atomic-level changes and macroscopic biological systems.
  • Advances in SGE and MAVEs demonstrate residuomics' utility in analyzing human genetic variation.

Conclusions:

  • Functional residuomics offers a powerful framework for understanding protein function and its impact on biological systems.
  • It holds significant promise for advancing precision medicine and developing novel diagnostics and therapeutics.
  • Ongoing innovations in genetic technologies and data analysis are poised to further unlock the potential of residuomics.