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

Pleiotropy01:33

Pleiotropy

41.1K
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
41.1K
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.9K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
17.9K
Notch Signaling Pathway03:14

Notch Signaling Pathway

4.4K
The Notch signaling pathway is a major intracellular signaling pathway that is highly conserved over a broad spectrum of metazoan species. It stands unique from other intracellular signaling mechanisms in animals because notch protein itself acts as the receptor as well as the primary signaling molecule.
The Notch gene came into the limelight in 1914 after the discovery that its mutation in Drosophila melanogaster leads to a serrated (or "notched") wing margin phenotype. It was not...
4.4K
Nonsense-mediated mRNA Decay02:27

Nonsense-mediated mRNA Decay

10.9K
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,...
10.9K
Genetic Lingo01:11

Genetic Lingo

104.9K
Overview
104.9K
Incomplete Dominance01:43

Incomplete Dominance

25.5K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
25.5K

You might also read

Related Articles

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

Sort by
Same author

Ophthalmic involvement in VEXAS syndrome and its influence on mortality: insights from the international AIDA network registry.

Frontiers in immunology·2026
Same author

Expanding the ABCA2-associated neurodevelopmental phenotype.

HGG advances·2026
Same author

The perfect storm: autoinflammation, metabolic stress, and thrombolysis in bilateral carotid dissection-a case report.

Journal of neurology·2026
Same author

Genetic landscape and molecular targets in pediatric pineal tumors.

Neuro-oncology advances·2026
Same author

Novel <i>NFIX</i> variant in a patient with Malan syndrome and associated Chiari type I malformation: a case report.

Frontiers in pediatrics·2026
Same author

Longitudinal Whole-Exome Sequencing of Cell-Free DNA Reveals Molecular Evolution and Heterogeneous Clinical Outcomes in PD-L1 Stratified Advanced NSCLC Adenocarcinoma Patients Treated with Atezolizumab.

International journal of molecular sciences·2026

Related Experiment Video

Updated: Sep 15, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.0K

Rare variants modulating phenotype in NF1 carriers.

Elena Pasquinelli1,2, Giulia Casamassima1,2, Giulia Brunelli1,2

  • 1Medical Genetics, University of Siena, Siena, Italy.

Scientific Reports
|July 13, 2025
PubMed
Summary

Additional genetic variants may explain the diverse symptoms in Neurofibromatosis type 1 (NF1). Rare variants in DNA repair genes are linked to cancer and other NF1 complications, impacting disease expressivity.

More Related Videos

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.8K
Author Spotlight: Collecting the Brain and Serum from the Same Mice Fetus to Study Brain Tumor Development
05:44

Author Spotlight: Collecting the Brain and Serum from the Same Mice Fetus to Study Brain Tumor Development

Published on: May 17, 2024

722

Related Experiment Videos

Last Updated: Sep 15, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

34.0K
In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

13.8K
Author Spotlight: Collecting the Brain and Serum from the Same Mice Fetus to Study Brain Tumor Development
05:44

Author Spotlight: Collecting the Brain and Serum from the Same Mice Fetus to Study Brain Tumor Development

Published on: May 17, 2024

722

Area of Science:

  • Genetics
  • Oncology
  • Rare Diseases

Background:

  • Neurofibromatosis type 1 (NF1) is a rare genetic disorder characterized by significant phenotypic variability.
  • Manifestations range from benign growths and psychosocial issues to aggressive cancers and congenital anomalies.

Purpose of the Study:

  • To investigate the hypothesis that additional rare genetic variants contribute to NF1's phenotypic variability.
  • To identify specific genetic variants associated with cancer and other NF1-related traits.

Main Methods:

  • Analysis of genetic variants in 32 NF1 patients, with a focus on cancer driver variants.
  • Validation study using UK Biobank data from 217 NF1 carriers (71 with cancer, 146 controls).
  • Assessment of pathogenic (P), likely pathogenic (LP), and uncertain significance (VUS) variants in DNA repair and other genes.

Main Results:

  • NF1 patients with solid cancers showed a higher average of cancer driver variants, particularly in DNA repair genes (p < 0.05).
  • A significant enrichment of P/LP/VUS variants in DNA repair genes was confirmed in NF1 patients with tumors (FDR ≤ 0.05).
  • P/LP variants in other genes were associated with NF1 ancillary traits like cognitive impairments, macrocephaly, and connective tissue defects.

Conclusions:

  • Additional genetic variants, beyond NF1 mutations, likely contribute to the wide spectrum of NF1 phenotypes.
  • Rare secondary genetic events may influence specific NF1 manifestations, increasing disease complexity and variability.
  • This finding offers new insights into the genetic underpinnings of NF1 expressivity.