ArticleBMC genetics2011
A rat model of hypohidrotic ectodermal dysplasia carries a missense mutation in the Edaradd gene.
Article in BMC genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 26 citations in OpenAlex.
- Developmental defects in ectodermal appendages caused by missense mutation in edaradd gene in the nfr mangrove killifish kryptolebias marmoratus.Scientific reports · 2025Article
- Identification of Goat Supernumerary Teat Phenotype Using Wide-Genomic Copy Number Variants.Animals : an open access journal from MDPI · 2024Article
- Positional cloning of rat mutant genes reveals new functions of these genes.Experimental animals · 2023Review
- The EDA/EDAR/NF-κB pathway in non-syndromic tooth agenesis: A genetic perspective.Frontiers in genetics · 2023Review
- The Role of Ectodysplasin A on the Ocular Surface Homeostasis.International journal of molecular sciences · 2022Review
- A New Organotypic 3D Slice Culture ofInternational journal of molecular sciences · 2022Article
- The EDA-deficient mouse has Zymbal's gland hypoplasia and acute otitis externa.Disease models & mechanisms · 2022Article
- Rat models of human diseases and related phenotypes: a systematic inventory of the causative genes.Journal of biomedical science · 2020Review
- Α de novo 3.8-Mb inversion affecting the EDA and XIST genes in a heterozygous female calf with generalized hypohidrotic ectodermal dysplasia.BMC genomics · 2019Article
- Role of ectodysplasin signalling in middle ear and nasal pathology in rat and mouse models of hypohidrotic ectodermal dysplasia.Disease models & mechanisms · 2019Article
- Need for Animal Models of Meibomian Gland Dysfunction.Ophthalmology and therapy · 2016Article
- Design and application of a target capture sequencing of exons and conserved non-coding sequences for the rat.BMC genomics · 2016Article
- Role of Keratinocyte Growth Factor in the Differentiation of Sweat Gland-Like Cells From Human Umbilical Cord-Derived Mesenchymal Stem Cells.Stem cells translational medicine · 2016Article
- Ectodysplasin/NF-κB signaling in embryonic mammary gland development.Journal of mammary gland biology and neoplasia · 2013Review
- Origins of albino and hooded rats: implications from molecular genetic analysis across modern laboratory rat strains.PloS one · 2012Article
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5 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundHypohidrotic ectodermal dysplasia (HED) is a congenital disorder characterized by sparse hair, oligodontia, and inability to sweat. It is caused by mutations in any of three Eda pathway genes: ectodysplasin (Eda), Eda receptor (Edar), and Edar-associated death domain (Edaradd), which encode ligand, receptor, and intracellular adaptor molecule, respectively. The Eda signaling pathway activates NF-κB, which is central to ectodermal differentiation. Although the causative genes and the molecular pathway affecting HED have been identified, no curative treatment for HED has been established. Previously, we found a rat spontaneous mutation that caused defects in hair follicles and named it sparse-and-wavy (swh). Here, we have established the swh rat as the first rat model of HED and successfully identified the swh mutation.
resultsThe swh/swh rat showed sparse hair, abnormal morphology of teeth, and absence of sweat glands. The ectoderm-derived glands, meibomian, preputial, and tongue glands, were absent. We mapped the swh mutation to the most telomeric part of rat Chr 7 and found a Pro153Ser missense mutation in the Edaradd gene. This mutation was located in the death domain of EDARADD, which is crucial for signal transduction and resulted in failure to activate NF-κB.
conclusionsThese findings suggest that swh is a loss-of-function mutation in the rat Edaradd and indicate that the swh/swh rat would be an excellent animal model of HED that could be used to investigate the pathological basis of the disease and the development of new therapies.
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