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Mutations

Mutations

Mutations

Mutations

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...

Viral Mutations

Viral Mutations

A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...

Energy to Drive Translocation

Energy to Drive Translocation

Mitochondrial protein import is powered by two distinct energy sources: ATP hydrolysis and electrochemical potential across the inner membrane. Newly synthesized precursors are bound by cytosolic chaperones of the Hsp70 family, which guide them to the import receptors on the mitochondrial surface. Utilizing the energy of ATP hydrolysis, Hsp70 chaperones transfer these precursors to the TOM receptors on the mitochondrial outer membrane.
Generally, polypeptides are unfolded by two distinct...

Mutation, Gene Flow, and Genetic Drift

Mutation, Gene Flow, and Genetic Drift

In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).

Mutations in Microorganisms

Mutations in Microorganisms

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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Related Experiment Video

Updated: Jan 23, 2026

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

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

Published on: March 10, 2023

A driving test for oncogenic mutations.

David E Heppner¹, Tyler S Beyett¹, Michael J Eck²

¹From the Department of Cancer Biology, Dana-Farber Cancer Institute, and Department of Biological Chemistry and Molecular Pharmacology, Harvard Medical School, Boston, Massachusetts 02115.

The Journal of Biological Chemistry

|June 16, 2019

Summary

This summary is machine-generated.

Researchers developed a new screening method to identify cancer-driving mutations in the epidermal growth factor receptor (EGFR) kinase. This approach successfully found known mutations and a novel oncogenic EGFR mutation, A702V.

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

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Area of Science:

Oncology
Molecular Biology
Genetics

Background:

Activating mutations in protein kinases drive cancer development.
Identifying oncogenic driver mutations is crucial for effective cancer therapy.
Distinguishing driver mutations from passenger mutations is a significant challenge.

Purpose of the Study:

To develop and validate a screening approach for identifying gain-of-function mutations in the epidermal growth factor receptor (EGFR) kinase.
To discover previously uncharacterized oncogenic EGFR mutations that can be targeted by drugs.

Main Methods:

Utilized an error-prone PCR-based screening strategy.
Employed a proliferating cell model to assess kinase activity.
Validated the screen by identifying known cancer-promoting EGFR mutations.

Main Results:

The screening method successfully identified known activating EGFR mutations.
A novel oncogenic EGFR mutation, A702V, was discovered.
The approach demonstrated efficacy in discovering driver mutations.

Conclusions:

The developed screening approach is powerful for identifying oncogenic driver mutations.
This method can accelerate the discovery of new therapeutic targets in cancer.
The identification of EGFR A702V highlights the potential of this screen for future cancer research.