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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...

Single Nucleotide Polymorphisms-SNPs

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...

Nucleotide Excision Repair

Nucleotide Excision Repair

DNA Distortion and Damage
Cells are regularly exposed to mutagens—factors in the environment that can damage DNA and generate mutations. UV radiation is one of the most common mutagens and is estimated to introduce a significant number of changes in DNA. These include bends or kinks in the structure, which can block DNA replication or transcription. If these errors are not fixed, the damage can cause mutations, which in turn can result in cancer or disease depending on which sequences are...

Nucleotide Excision Repair

Nucleotide Excision Repair

The Ras Gene

The Ras Gene

The Ras-gene-encoded proteins are regulators of signaling pathways controlling cell proliferation, differentiation, or cell survival. The Ras-gene family in humans constitutes three primary members—the HRas, NRas, and KRas. These genes code for four functionally distinct yet closely related proteins—the HRas, NRas, KRas4A, and KRas4B. The involvement of mutant Ras genes in human cancer was first discovered in 1982 and is among the most common causes of human tumorigenesis.
Ras is a...

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Related Experiment Video

Updated: Nov 16, 2025

Yeast Luminometric and Xenopus Oocyte Electrophysiological Examinations of the Molecular Mechanosensitivity of TRPV4

Yeast Luminometric and Xenopus Oocyte Electrophysiological Examinations of the Molecular Mechanosensitivity of TRPV4

Published on: December 31, 2013

Human TRPV6-pathies caused by gene mutations.

Verena Nett¹, Nicole Erhardt¹, Amanda Wyatt¹

¹Institut für Experimentelle und Klinische Pharmakologie und Toxikologie, Universität des Saarlandes, 66421 Homburg, Germany.

Biochimica Et Biophysica Acta. General Subjects

|February 21, 2021

Summary

This summary is machine-generated.

Mutations in the TRPV6 gene are linked to hyperparathyroidism and may trigger non-alcoholic chronic pancreatitis. This review details the consequences of these TRPV6 gene mutations.

Keywords:

Chronic pancreatitis Ion channel calcium channel Parathyroid hormone Placental calcium transport Skeletal dysplasia TRPV6 Transient hyperparathyroidism Transient receptor potential

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Last Updated: Nov 16, 2025

Yeast Luminometric and Xenopus Oocyte Electrophysiological Examinations of the Molecular Mechanosensitivity of TRPV4

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Published on: December 31, 2013

A Phenotyping Regimen for Genetically Modified Mice Used to Study Genes Implicated in Human Diseases of Aging

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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

Area of Science:

Molecular biology
Human physiology
Genetics

Background:

The Transient Receptor Potential (TRP) channel family comprises 27 human members.
TRP channels are typically non-selective cation channels, with TRPV5 and TRPV6 being notable exceptions due to their high calcium ion (Ca2+) permeability.
Functional TRPV6 channels are tetramers composed of four identical subunits.

Purpose of the Study:

To review the consequences of mutations in the human TRPV6 gene.
To highlight the association between TRPV6 gene mutations and specific health conditions.

Main Methods:

Literature review of recent publications.
Analysis of genetic mutations affecting TRPV6 channel function.

Main Results:

Mutations in human TRPV6 genes alter channel function.
Altered TRPV6 function can lead to elevated parathyroid hormone levels and transient hyperparathyroidism.
Emerging evidence suggests TRPV6 mutations may also induce non-alcoholic chronic pancreatitis.

Conclusions:

TRPV6 gene mutations have significant physiological consequences.
These mutations are implicated in endocrine disorders and pancreatic diseases.
Further research into TRPV6 channelopathies is warranted.