Gene defect in ectodermal dysplasia implicates a death domain adapter in development

Headon, Denis J.; Emmal, Stephanie A.; Ferguson, Betsy M.; Tucker, Abigail S.; Justice, Monica J.; Sharpe, Paul T.; Zonana, Jonathan; Overbeek, Paul A.

doi:10.1038/414913a

Cited by 378dental development and anomaliesHair Growth and DisordersGenetic and rare skin diseases.

Gene defect in ectodermal dysplasia implicates a death domain adapter in development

Headon, Denis J., Emmal, Stephanie A., Ferguson, Betsy M., Tucker, Abigail S., Justice, Monica J., Sharpe, Paul T., Zonana, Jonathan, Overbeek, Paul A.·2001·Nature

DOI 10.1038/414913a

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Abstract

Members of the tumour-necrosis factor receptor (TNFR) family that contain an intracellular death domain initiate signalling by recruiting cytoplasmic death domain adapter proteins. Edar is a death domain protein of the TNFR family that is required for the development of hair, teeth and other ectodermal derivatives. Mutations in Edar-or its ligand, Eda-cause hypohidrotic ectodermal dysplasia in humans and mice. This disorder is characterized by sparse hair, a lack of sweat glands and malformation of teeth. Here we report the identification of a death domain adapter encoded by the mouse crinkled locus. The crinkled mutant has an hypohidrotic ectodermal dysplasia phenotype identical to that of the edar (downless) and eda (Tabby) mutants. This adapter, which we have called Edaradd (for Edar-associated death domain), interacts with the death domain of Edar and links the receptor to downstream signalling pathways. We also identify a missense mutation in its human orthologue, EDARADD, that is present in a family affected with hypohidrotic ectodermal dysplasia. Our findings show that the death receptor/adapter signalling mechanism is conserved in developmental, as well as apoptotic, signalling.

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Ectodysplasin binds to its receptor EDAR, which recruits the adapter protein EDARADD to transduce a signal and activate NF-kB via the IKK complex.
“Ectodysplasin binds to its receptor EDAR which recruits the adapter protein EDARADD to transduce a signal and activate NF-kB via the IKK complex [Headon et al., 2001].”
From Ectodermal dysplasias: Clinical and molecular review (2009) · cites this paper as Headon et al., 2001
The EDARADD gene (1q42.2-q43), which determines the adaptor for the EDAR receptor, may also cause hypohidrotic ectodermal dysplasia of autosomal recessive and autosomal dominant inheritance patterns.
“The EDARADD gene (1q42.2-q43)which determines the adaptor for the EDAR receptor may also cause hypohidrotic ED of the AR [Headon et al., 2001] and AD [Bal et al., 2007] inheritance patterns.”
From Ectodermal dysplasias: Clinical and molecular review (2009) · cites this paper as Headon et al., 2001

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Authors: Headon, D. J., Emmal, S. A., Ferguson, B. M., Tucker, A. S., Justice, M. J., Sharpe, P. T., Zonana, J., & Overbeek, P. A.
Affiliations: Baylor College of Medicine (US)
Oregon Health & Science University (US)
Guy's Hospital (GB)
Corresponding author: Overbeek, Paul A.
ORCID: Headon, Denis J.
Ferguson, Betsy M.
Tucker, Abigail S.
Justice, Monica J.
Sharpe, Paul T.
Overbeek, Paul A.
Venue: Nature
Publisher: Springer Science and Business Media LLC
Published: 2001-12
Volume: 414
Issue: 6866
Pages: 913-916
ISSN: 0028-0836 (ISSN-L)
1476-4687
DOI: 10.1038/414913a
OpenAlex: W2107474918
Cited by: 378
References: 29
Citations by year: 2026: 4 · 2025: 1 · 2024: 17 · 2023: 11 · 2022: 13 · 2021: 13 · 2020: 12 · 2019: 12 · 2018: 12 · 2017: 7 · 2016: 12 · 2015: 14 · 2014: 16 · 2013: 15 · 2012: 15
FWCI: 7.81
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
Locations: Nature (publishedVersion)
PubMed (publishedVersion)
RePEc: Research Papers in Economics (submittedVersion)
Research Portal (King's College London) (submittedVersion)
Research Explorer (The University of Manchester) (submittedVersion)
Funders: National Foundation for Ectodermal Dysplasias
National Institutes of Health
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › dental development and anomalies
Health Sciences › Medicine › Urology › Hair Growth and Disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
Keywords: hypohidrotic ectodermal dysplasia, EDAR, EDA, EDARADD, hair development, tooth development, sweat gland development, death receptor signaling, missense mutations, mouse mutants
MeSH terms: Amino Acid Sequence, Animals, Cell Line, Ectodermal Dysplasia, Humans, Membrane Proteins, Mice, Inbred C3H, Mice, Inbred C57BL, Molecular Sequence Data, Mutation, Protein Binding, Signal Transduction, Gene Expression, NF-kappa B, Sequence Homology, Amino Acid, Protein Structure, Tertiary, Receptors, Tumor Necrosis Factor, Mice, Receptors, Ectodysplasin, Edar Receptor

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Gene defect in ectodermal dysplasia implicates a death domain adapter in development

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