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

Nucleotide Excision Repair01:38

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 Repair01:08

Nucleotide Excision Repair

Overview
Pigmentation01:19

Pigmentation

The color of the skin is influenced by a number of pigments, including melanin, carotene, and hemoglobin. Recall that melanin is produced by cells called melanocytes, which are found scattered throughout the stratum basale of the epidermis. The melanin is transferred to the keratinocytes via melanosomes.
Melanin occurs in two primary forms: eumelanin that provides black and brown pigment and pheomelanin that provides red color. Dark-skinned individuals produce more melanin than those with pale...
Changes in Skin Color: Clinical Perspectives01:14

Changes in Skin Color: Clinical Perspectives

The first thing a clinician sees is the skin, so the examination of the skin should be part of any thorough physical examination. Most skin disorders are relatively benign, but a few, including melanomas, can be fatal if untreated. A couple of the more noticeable disorders, albinism and vitiligo, affect the appearance of the skin and its accessory organs.
Albinism
Albinism is a genetic disorder that affects (completely or partially) the coloring of skin, hair, and eyes. The defect is primarily...
Mutations01:35

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...

You might also read

Related Articles

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

Sort by
Same author

RNA Lariat-Debranching Enzyme (DBR1) Variations in Sabinas Brittle Hair Syndrome Form of Trichothiodystrophy: A Trichothiodystrophy-Causing Gene.

The Journal of investigative dermatology·2025
Same author

Co-infection of HSV-1 amplicons containing the <i>XPC</i> gene and a human artificial chromosome vector into primary XPC deficient fibroblast cells.

Biochemistry and biophysics reports·2024
Same author

Different germline variants in the XPA gene are associated with severe, intermediate, or mild neurodegeneration in xeroderma pigmentosum patients.

PLoS genetics·2024
Same author

Personalized sun protection equation: Dermatology + Psychology = XPAND.

The British journal of dermatology·2024
Same author

Retrospective study of efficacy and adverse events of immune checkpoint inhibitors in 22 xeroderma pigmentosum patients with metastatic or unresectable cancers.

Frontiers in oncology·2023
Same author

A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome.

The Journal of clinical investigation·2023

Related Experiment Video

Updated: May 26, 2026

Stimulation of Stem Cell Niches and Tissue Regeneration in Mouse Skin by Switchable Protoporphyrin IX-Dependent Photogeneration of Reactive Oxygen Species In Situ
10:05

Stimulation of Stem Cell Niches and Tissue Regeneration in Mouse Skin by Switchable Protoporphyrin IX-Dependent Photogeneration of Reactive Oxygen Species In Situ

Published on: May 8, 2020

Shining a light on xeroderma pigmentosum.

John J DiGiovanna1, Kenneth H Kraemer

  • 1DNA Repair Section, Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892-4258, USA.

The Journal of Investigative Dermatology
|January 6, 2012
PubMed
Summary
This summary is machine-generated.

Xeroderma pigmentosum (XP) is a DNA repair disorder causing extreme sun sensitivity and high skin cancer rates. Defective DNA repair in XP patients highlights its crucial role in preventing cancer.

More Related Videos

Light-mediated Reversible Modulation of the Mitogen-activated Protein Kinase Pathway during Cell Differentiation and Xenopus Embryonic Development
09:32

Light-mediated Reversible Modulation of the Mitogen-activated Protein Kinase Pathway during Cell Differentiation and Xenopus Embryonic Development

Published on: June 15, 2017

Minimal Erythema Dose (MED) Testing
06:24

Minimal Erythema Dose (MED) Testing

Published on: May 28, 2013

Related Experiment Videos

Last Updated: May 26, 2026

Stimulation of Stem Cell Niches and Tissue Regeneration in Mouse Skin by Switchable Protoporphyrin IX-Dependent Photogeneration of Reactive Oxygen Species In Situ
10:05

Stimulation of Stem Cell Niches and Tissue Regeneration in Mouse Skin by Switchable Protoporphyrin IX-Dependent Photogeneration of Reactive Oxygen Species In Situ

Published on: May 8, 2020

Light-mediated Reversible Modulation of the Mitogen-activated Protein Kinase Pathway during Cell Differentiation and Xenopus Embryonic Development
09:32

Light-mediated Reversible Modulation of the Mitogen-activated Protein Kinase Pathway during Cell Differentiation and Xenopus Embryonic Development

Published on: June 15, 2017

Minimal Erythema Dose (MED) Testing
06:24

Minimal Erythema Dose (MED) Testing

Published on: May 28, 2013

Area of Science:

  • Genetics
  • Molecular Biology
  • Dermatology

Background:

  • Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder.
  • It is characterized by extreme sun sensitivity and UV radiation-induced cancers.
  • XP involves defects in DNA repair mechanisms, specifically nucleotide excision repair.

Purpose of the Study:

  • To elucidate the genetic basis and clinical manifestations of Xeroderma pigmentosum.
  • To understand the link between DNA repair defects, UV exposure, and cancer development.
  • To investigate the neurological aspects of XP.

Main Methods:

  • Analysis of DNA repair pathways in XP cells.
  • Identification of defective proteins in nucleotide excision repair and DNA polymerase eta.
  • Clinical studies on XP patient populations.

Main Results:

  • XP cells exhibit hypersensitivity to UV radiation.
  • XP-associated cancers display characteristic UV-signature mutations.
  • A significant increase in skin cancer risk (nearly 10,000-fold) was observed in young XP patients.

Conclusions:

  • Defective DNA repair is a critical factor in cancer prevention.
  • XP underscores the link between DNA damage, mutations, and cancer.
  • Neurological degeneration in XP may result from oxidative DNA damage.