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Trends Genet. 2014 Jan;30(1):24-31. doi: 10.1016/j.tig.2013.08.006. Epub 2013 Sep 23.

The ectodysplasin pathway: from diseases to adaptations.

Author information

1
Institut de Génomique Fonctionnelle de Lyon, Université de Lyon, Université Lyon 1, Centre National de la Recherche Scientifique (CNRS), Ecole Normale Supérieure de Lyon, 46 allée d'Italie, 69364 Lyon CEDEX 07, France.
2
Institut de Génomique Fonctionnelle de Lyon, Université de Lyon, Université Lyon 1, Centre National de la Recherche Scientifique (CNRS), Ecole Normale Supérieure de Lyon, 46 allée d'Italie, 69364 Lyon CEDEX 07, France. Electronic address: Vincent.Laudet@ens-lyon.fr.

Abstract

The ectodysplasin (EDA) pathway, which is active during the development of ectodermal organs, including teeth, hairs, feathers, and mammary glands, and which is crucial for fine-tuning the developmental network controlling the number, size, and density of these structures, was discovered by studying human patients affected by anhidrotic/hypohidrotic ectodermal dysplasia. It comprises three main gene products: EDA, a ligand that belongs to the tumor necrosis factor (TNF)-α family, EDAR, a receptor related to the TNFα receptors, and EDARADD, a specific adaptor. This core pathway relies on downstream NF-κB pathway activation to regulate target genes. The pathway has recently been found to be associated with specific adaptations in natural populations: the magnitude of armor plates in sticklebacks and the hair structure in Asian human populations. Thus, despite its role in human disease, the EDA pathway is a 'hopeful pathway' that could allow adaptive changes in ectodermal appendages which, as specialized interfaces with the environment, are considered hot-spots of morphological evolution.

KEYWORDS:

adaptation; anhidrotic/hypohidrotic ectodermal dysplasia; ectodermal appendages; ectodysplasin; signaling pathways

PMID:
24070496
DOI:
10.1016/j.tig.2013.08.006
[Indexed for MEDLINE]

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