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

44.5K
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...
44.5K
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

64.3K
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).
64.3K
Intrinsically Disordered Proteins02:18

Intrinsically Disordered Proteins

19.5K
Intrinsically disordered proteins are a group of proteins that do not fold into specific three-dimensional structures. Their structural flexibility allows them to complement ordered proteins to perform functions that are inaccessible to rigid structures. They are more common in eukaryotes than prokaryotes and may either be exclusively intrinsically disordered or hybrid proteins, consisting of a mix of ordered and disordered regions. The absence of a rigid structure in these proteins can be...
19.5K
Mutations in Microorganisms01:18

Mutations in Microorganisms

728
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,...
728

You might also read

Related Articles

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

Sort by
Same author

Chronic hyponatraemia with a reset osmostat: when abnormal is normal.

Pediatric nephrology (Berlin, Germany)·2026
Same author

Second interim analysis of the post-authorisation safety study (PASS) of burosumab in paediatric patients with X-linked hypophosphataemia.

European journal of endocrinology·2026
Same author

Essential but elusive: the availability of suitable salt treatments for tubulopathies.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association·2026
Same author

Renal Fanconi syndrome and vitamin D deficiency: chicken or egg?

Pediatric nephrology (Berlin, Germany)·2026
Same author

Markers and regulators of osteoblast and osteoclast activity in children with X-linked hypophosphatemia treated with burosumab.

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research·2026
Same author

Anthropometric characteristics at birth and growth outcome in patients with X-linked hypophosphatemia treated with oral phosphate and active vitamin D.

Pediatric nephrology (Berlin, Germany)·2026

Related Experiment Video

Updated: Feb 4, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.4K

A New Multisystem Disorder Caused by the Gαs Mutation p.F376V.

Heike Biebermann1, Gunnar Kleinau1,2, Dirk Schnabel3,4

  • 1Institute of Experimental Pediatric Endocrinology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, Berlin, Germany.

The Journal of Clinical Endocrinology and Metabolism
|October 13, 2018
PubMed
Summary
This summary is machine-generated.

A novel GNAS mutation causes a rare multisystem disorder in boys, presenting with hormonal imbalances and skeletal issues. This discovery expands our understanding of G-protein signaling disorders.

More Related Videos

Measuring Microbial Mutation Rates with the Fluctuation Assay
07:44

Measuring Microbial Mutation Rates with the Fluctuation Assay

Published on: November 28, 2019

24.9K
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

Related Experiment Videos

Last Updated: Feb 4, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

26.4K
Measuring Microbial Mutation Rates with the Fluctuation Assay
07:44

Measuring Microbial Mutation Rates with the Fluctuation Assay

Published on: November 28, 2019

24.9K
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

Area of Science:

  • Endocrinology
  • Genetics
  • Molecular Biology

Background:

  • The stimulatory G protein alpha subunit (Gαs), encoded by GNAS, is crucial for linking receptors to adenylyl cyclase.
  • Maternal GNAS expression is predominant in certain tissues, making heterozygous loss-of-function mutations cause hormonal resistance.
  • Somatic gain-of-function mutations lead to hormone-independent endocrine stimulation.

Observation:

  • Two unrelated boys exhibited a unique combination of clinical findings suggesting both Gαs gain and loss of function.
  • Patients presented with infantile hyponatremia, severe precocious puberty, and skeletal abnormalities.
  • An identical de novo heterozygous variant (p.F376V) was identified on the maternal GNAS allele in both patients.

Findings:

  • The GNAS p.F376V mutation resulted in a novel phenotype, distinct from known Gαs-related disorders.
  • This mutation suggested gain of function at the vasopressin 2 receptor (V2R) and lutropin/choriogonadotropin receptor (LHCGR).
  • Increased serum PTH concentrations indicated impaired proximal tubular PTH1 receptor (PTH1R) function, with in vitro studies confirming enhanced basal and blunted stimulated signaling.

Implications:

  • The GNAS p.F376V mutation defines a previously unrecognized multisystem disorder.
  • This finding broadens the spectrum of GNAS-related disorders and G-protein signaling abnormalities.
  • Understanding this mutation's dual effect on receptor signaling provides insights into complex endocrine regulation.