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

84.2K
Overview
84.2K
Abnormal Proliferation02:23

Abnormal Proliferation

4.6K
Under normal conditions, most adult cells remain in a non-proliferative state unless stimulated by internal or external factors to replace lost cells. Abnormal cell proliferation is a condition in which the cell's growth exceeds and is uncoordinated with normal cells. In such situations, cell division persists in the same excessive manner even after cessation of the stimuli, leading to persistent tumors. The tumor arises from the damaged cells that replicate to pass the damage to the...
4.6K
Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

10.8K
The Upf proteins that carry out nonsense-mediated decay (NMD) are found in all eukaryotic organisms, including humans. Each protein has an individual role, but they need to work in collaboration. Upf1 is an ATP-dependent RNA helicase that unwinds the RNA helix. Because Upf1 can unwind any RNA, Upf2 and Upf3 are required to help Upf1 discriminate between nonsense and normal mRNAs.
Usually, Upf3 binds to an Exon Junction Complex (EJC) at mRNA splice sites. If a ribosome fully translates the mRNA,...
10.8K
Translation01:31

Translation

15.3K
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Proteins are...
15.3K
Loss of Tumor Suppressor Gene Functions01:12

Loss of Tumor Suppressor Gene Functions

5.1K
Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
When the tumor suppressor genes develop mutations or are lost, cells start growing out of control, leading to cancer. However, a single functional copy of the tumor suppressor gene is enough for the cells to maintain their normal functions and cell...
5.1K
Induced Pluripotent Stem Cells01:06

Induced Pluripotent Stem Cells

4.3K
Stem cells are undifferentiated cells that divide and produce different cell types. Ordinarily, cells that have differentiated into a specific cell type are terminally differentiated; however, scientists have found a way to reprogram these mature cells so that they dedifferentiate and return to an unspecialized, proliferative state. These cells are pluripotent like embryonic stem cells—able to produce all cell types—and are called induced pluripotent stem cells (iPSCs).
Somatic...
4.3K

You might also read

Related Articles

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

Sort by
Same author

Clinical and Genetic Characterization of a Russian Family with Bardet-Biedl Syndrome Carrying a Previously Undescribed Missense Variant and a Recurrent Pathogenic Frameshift Variant in <i>BBS7</i> Gene.

Genes·2026
Same author

A Rare Clinical Presentation of Variegate Porphyria.

Molecular genetics & genomic medicine·2026
Same author

FLNC Complex Structural Variant Causing Distal Myopathy Identified by Family-Based Genome Sequencing.

American journal of medical genetics. Part A·2026
Same author

A Diagnostic Dilemma: Concurrent Diagnosis of Cystic Fibrosis and Definitive Kabuki Syndrome Type 1.

International journal of molecular sciences·2026
Same author

First Symptomatic Pediatric Case of Hb Rothschild (<i>HBB</i>: c.112T>C, p.Trp38Arg): Low-Oxygen-Affinity Hemoglobin Presenting with Persistent Pseudohypoxemia.

Diagnostics (Basel, Switzerland)·2025
Same author

Duchenne Muscular Dystrophy in the Republic of North Ossetia-Alania: Epidemiological Study, Diagnostic Issues, and Treatment Prospects.

Genes·2025

Related Experiment Video

Updated: Sep 6, 2025

Chemical Inactivation of the E3 Ubiquitin Ligase Cereblon by Pomalidomide-based Homo-PROTACs
10:44

Chemical Inactivation of the E3 Ubiquitin Ligase Cereblon by Pomalidomide-based Homo-PROTACs

Published on: May 15, 2019

13.3K

A Founder Mutation in the POMC 5'-UTR Causes Proopiomelanocortin Deficiency Through Splicing-Mediated Decrease of

Iuliia Viakhireva1, Natalia Kalinchenko2, Evgeny Vasilyev2

  • 1Department of Endocrine Genetics, Research Centre for Medical Genetics, 115522 Moscow, Russian Federation.

The Journal of Clinical Endocrinology and Metabolism
|July 1, 2022
PubMed
Summary

A rare POMC gene mutation in the 5'-untranslated region causes adrenal insufficiency, obesity, and red hair. This study identifies a novel variant and its molecular mechanism in seven patients.

Keywords:
POMC geneadrenal insufficiencyfounder effecthypoglycemiaobesityproopiomelanocortin

More Related Videos

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein
05:48

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein

Published on: March 16, 2022

2.7K
Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
09:37

Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells

Published on: August 25, 2021

1.9K

Related Experiment Videos

Last Updated: Sep 6, 2025

Chemical Inactivation of the E3 Ubiquitin Ligase Cereblon by Pomalidomide-based Homo-PROTACs
10:44

Chemical Inactivation of the E3 Ubiquitin Ligase Cereblon by Pomalidomide-based Homo-PROTACs

Published on: May 15, 2019

13.3K
Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein
05:48

Removal of an Internal Translational Start Site from mRNA While Retaining Expression of the Full-Length Protein

Published on: March 16, 2022

2.7K
Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
09:37

Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells

Published on: August 25, 2021

1.9K

Area of Science:

  • Genetics
  • Endocrinology
  • Rare Diseases

Background:

  • Adrenal insufficiency, obesity, and red hair is a rare autosomal recessive disorder.
  • Most known disease-causing variants are in the coding region of the POMC gene.

Purpose of the Study:

  • To describe and functionally characterize a novel homozygous mutation in the 5 -untranslated region (UTR) of the POMC gene.
  • To investigate a new molecular mechanism for POMC deficiency.

Main Methods:

  • Whole-exome sequencing (WES) with autozygosity mapping.
  • Sanger sequencing, model expression systems, and RNA sequencing.
  • Clinical evaluation of seven unrelated patients with hypoglycemia, excessive weight gain, and hormonal deficiencies.

Main Results:

  • A novel homozygous POMC 5 -UTR variant (chr2:25391366C>T) at the intron 1 splice donor site was identified in seven patients.
  • The variant significantly decreased POMC messenger RNA levels.
  • Evidence suggests a founder effect for this mutation in the Perm Tatar ethnic group.

Conclusions:

  • This report presents a new molecular mechanism for POMC deficiency.
  • The findings contribute to understanding the phenotypic variability of this rare disorder.