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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...

Cancers Originate from Somatic Mutations in a Single Cell

Cancers Originate from Somatic Mutations in a Single Cell

Cancer arises from mutations in the critical genes that allow healthy cells to escape cell cycle regulation and acquire the ability to proliferate indefinitely. Though originating from a single mutation event in one of the originator cells, cancer progresses when the mutant cell lines continue to gain more and more mutations, and finally, become malignant. For example, chronic myelogenous leukemia (CML) develops initially as a non-lethal increase in white blood cells, which progressively...

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 29, 2026

Working with Human Tissues for Translational Cancer Research

Working with Human Tissues for Translational Cancer Research

Published on: November 26, 2015

UTX Mutations in Human Cancer.

Lu Wang¹, Ali Shilatifard¹

¹Simpson Querrey Center for Epigenetics, Department of Biochemistry and Molecular Genetics, Northwestern University Feinberg School of Medicine, Searle 6-512, 320 E. Superior St., Chicago, IL 60611, USA.

|February 13, 2019

Summary

Ubiquitously transcribed tetratricopeptide repeat on chromosome X (UTX) removes histone marks crucial for development. Its mutations in cancers highlight UTX

Keywords:

UTX cancer chromatin gene expression transcription

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Last Updated: Jan 29, 2026

Working with Human Tissues for Translational Cancer Research

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Published on: November 26, 2015

Isolation of Cancer Stem Cells From Human Prostate Cancer Samples

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Published on: March 14, 2014

Characterizing Mutational Load and Clonal Composition of Human Blood

Characterizing Mutational Load and Clonal Composition of Human Blood

Published on: July 11, 2019

Area of Science:

Epigenetics and Molecular Biology
Developmental Biology
Cancer Biology

Background:

The histone demethylase UTX (KDM6A) regulates gene expression by targeting H3K27 methylation.
UTX is implicated in development, cellular reprogramming, and is frequently mutated in human cancers.
The COMPASS family, including UTX, MLL3, and MLL4, plays roles in both development and oncogenesis.

Purpose of the Study:

To elucidate the catalytic-dependent and -independent roles of UTX and its COMPASS partners (MLL3, MLL4) in development.
To explore the molecular mechanisms by which mutations in UTX, MLL3, and MLL4 contribute to cancer development (oncogenesis).

Main Methods:

This discussion synthesizes existing research on UTX and COMPASS family functions.
Focuses on reviewing literature regarding catalytic and non-catalytic activities.
Examines the link between mutations and oncogenic pathways.

Main Results:

UTX's demethylase activity is critical for homeotic gene expression and embryonic development.
COMPASS family members, including UTX, MLL3, and MLL4, exhibit both catalytic and non-catalytic functions.
Mutations in these genes disrupt normal cellular processes, potentially driving cancer formation.

Conclusions:

UTX and its COMPASS partners are vital regulators in development.
Understanding their functions and mutation-driven alterations is key to deciphering oncogenesis.
Further research into catalytic and non-catalytic roles will illuminate therapeutic strategies.