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 Experiment Videos

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease.

A Sakuntabhai1, V Ruiz-Perez, S Carter

  • 1The Wellcome Trust Centre for Human Genetics, University of Oxford, UK.

Nature Genetics
|March 18, 1999
PubMed
Summary

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

"African" acral keratoderma: Further evidence for a single entity. A retrospective study of 42 patients.

Annales de dermatologie et de venereologie·2022
Same author

Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phenotype unveils skewed Th2 immunity.

Journal of the European Academy of Dermatology and Venereology : JEADV·2021
Same author

The challenging management of a series of 43 infants with Netherton syndrome: unexpected complications and novel mutations.

The British journal of dermatology·2020
Same author

Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility.

The British journal of dermatology·2020
Same author

A previously unreported frameshift ATP2C1 mutation in a generalized Hailey-Hailey disease.

Journal of the European Academy of Dermatology and Venereology : JEADV·2019
Same author

EBGene trial: patient preselection outcomes for the European GENEGRAFT ex vivo phase I/II gene therapy trial for recessive dystrophic epidermolysis bullosa.

The British journal of dermatology·2019

Mutations in the ATP2A2 gene cause Darier disease (DD), an autosomal-dominant skin disorder. This finding reveals the gene

Area of Science:

  • Genetics
  • Dermatology
  • Molecular Biology

Background:

  • Darier disease (DD) is an autosomal-dominant skin disorder.
  • DD is characterized by acantholysis and abnormal keratinization.

Purpose of the Study:

  • To identify the genetic cause of Darier disease.
  • To investigate the role of ATP2A2 gene in DD pathogenesis.

Main Methods:

  • Construction of a P1-derived artificial chromosome contig spanning the DD candidate region on chromosome 12q23-24.1.
  • Screening of genes within the candidate region for mutations.
  • Identification and characterization of mutations in the ATP2A2 gene.

Main Results:

  • Thirteen mutations were identified in the ATP2A2 gene, encoding sarco/endoplasmic reticulum Ca2(+)-ATPase type 2 isoform (SERCA2).

Related Experiment Videos

  • Mutations included frameshift deletions, in-frame deletions/insertions, splice-site mutations, and missense mutations in functional domains.
  • ATP2A2 is highly expressed in keratinocytes.

    • Conclusions:

    • Mutations in the ATP2A2 gene are the cause of Darier disease.
    • The ATP2A2 gene plays a crucial role in epidermal cell-to-cell adhesion and differentiation through a Ca(2+)-signalling pathway.