Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Mutations01:39

Mutations

94.5K
Overview
94.5K
Mutations01:35

Mutations

44.6K
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...
44.6K
Viral Mutations00:36

Viral Mutations

39.9K
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...
39.9K
Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

64.4K
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).
64.4K
Mutations in Microorganisms01:18

Mutations in Microorganisms

741
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,...
741
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

1.2K
Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...
1.2K

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Academic and Demographic Predictors of Physician Assistant National Certifying Examination Achievement in Physician Assistant Education.

The journal of physician assistant education : the official journal of the Physician Assistant Education Association·2026
Same author

Ascl3<sup>+</sup> ionocytes in murine salivary gland ducts are innervated sensory cells that display unique calcium signalling characteristics and contribute to the composition of saliva.

The Journal of physiology·2026
Same author

Anti-apoptotic BCL-2 binds to all three IP3R isoforms, thereby limiting the Ca2+-flux properties of IP3R homo-tetramers.

Open biology·2026
Same author

Expanding the Early Childhood Manifestations of <i>ITPR1</i> Heterozygous Variants Beyond Congenital Ataxia and Gillespie Syndrome.

Neurology. Genetics·2025
Same author

CCK-elicited pancreatic Ca<sup>2+</sup> signalling and function likely requires IP<sub>3</sub> formation.

The Journal of physiology·2025
Same author

Direct measurements of luminal Ca2+ with endo-lysosomal GFP-aequorin reveal functional IP3 receptors.

The Journal of cell biology·2025
Same journal

The Making and Breaking of Inositol 1,4,5-Trisphosphate Receptor Tetramers.

Messenger (Los Angeles, Calif. : Print)·2018
Same journal

Lysosomal Calcium in Neurodegeneration.

Messenger (Los Angeles, Calif. : Print)·2017
Same journal

Carvedilol inhibits cADPR- and IP<sub>3</sub>-induced Ca<sup>2+</sup> release.

Messenger (Los Angeles, Calif. : Print)·2017
Same journal

Acidic Ca<sup>2+</sup> stores in neurodegeneration.

Messenger (Los Angeles, Calif. : Print)·2017
Same journal

A Special Issue of <i>Messenger</i> 2016.

Messenger (Los Angeles, Calif. : Print)·2017
Same journal

ADP-ribosyl cyclases regulate early development of the sea urchin.

Messenger (Los Angeles, Calif. : Print)·2017
See all related articles

Related Experiment Video

Updated: Feb 5, 2026

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
12:49

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders

Published on: September 4, 2011

14.4K

Inositol 1,4,5-trisphosphate Receptor Mutations associated with Human Disease.

Lara E Terry1, Kamil J Alzayady1, Esraa Furati1

  • 1Department of Pharmacology and Physiology, University of Rochester, Rochester, New York 14642.

Messenger (Los Angeles, Calif. : Print)
|September 11, 2018
PubMed
Summary
This summary is machine-generated.

Mutations in the inositol 1,4,5-trisphosphate receptor (IP3R) channel are linked to diseases like ataxia and cancer. This review summarizes known IP3R mutations, symptoms, and their potential impact on receptor function and disease mechanisms.

More Related Videos

Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations
06:39

Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations

Published on: August 24, 2018

7.1K
Absolute Quantitation of Inositol Pyrophosphates by Capillary Electrophoresis Electrospray Ionization Mass Spectrometry
09:22

Absolute Quantitation of Inositol Pyrophosphates by Capillary Electrophoresis Electrospray Ionization Mass Spectrometry

Published on: August 13, 2021

2.8K

Related Experiment Videos

Last Updated: Feb 5, 2026

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders
12:49

Mutagenesis and Analysis of Genetic Mutations in the GC-rich KISS1 Receptor Sequence Identified in Humans with Reproductive Disorders

Published on: September 4, 2011

14.4K
Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations
06:39

Differentiation, Maintenance, and Analysis of Human Retinal Pigment Epithelium Cells: A Disease-in-a-dish Model for BEST1 Mutations

Published on: August 24, 2018

7.1K
Absolute Quantitation of Inositol Pyrophosphates by Capillary Electrophoresis Electrospray Ionization Mass Spectrometry
09:22

Absolute Quantitation of Inositol Pyrophosphates by Capillary Electrophoresis Electrospray Ionization Mass Spectrometry

Published on: August 13, 2021

2.8K

Area of Science:

  • Cellular Biology
  • Molecular Biology
  • Genetics

Background:

  • Calcium signaling is crucial for cellular processes.
  • The inositol 1,4,5-trisphosphate receptor (IP3R) regulates calcium release into the cytosol.
  • Dysfunction of IP3R is implicated in various diseases.

Purpose of the Study:

  • To review reported mutations in all four domains of the IP3R.
  • To correlate these mutations with associated disease symptoms.
  • To explore the functional impact of mutations on IP3R structure and disease mechanisms.

Main Methods:

  • Literature review of reported IP3R mutations and associated symptoms.
  • Analysis of data from transgenic animal models.
  • Examination of receptor stoichiometry and mutation domain location.

Main Results:

  • A summary of identified IP3R mutations across all domains.
  • Correlation of specific mutations with diseases such as ataxia, cancer, and anhidrosis.
  • Speculation on how mutations affect IP3R structure, function, and disease pathogenesis.

Conclusions:

  • IP3R mutations are associated with a range of human diseases.
  • Functional characterization of most IP3R mutations is lacking.
  • Further research is needed to understand the precise mechanisms by which IP3R mutations lead to disease.