EDAR Human

EDAR is a type II transmembrane protein that contains a TNF homology domain. It binds specifically to the EDA-A1 splice variant of ectodysplasin A. Upon binding, EDAR recruits the intracellular EDAR-associated death domain (EDARADD) adapter protein, leading to the activation of the NF-κB signaling pathway . This signaling pathway is essential for the proper formation of several structures that arise from the ectoderm during embryonic development .

Mutations in the EDAR gene can lead to hypohidrotic ectodermal dysplasia (HED), a disorder characterized by a lower density of sweat glands, sparse hair, and missing teeth . The derived G-allele point mutation (SNP) in EDAR, known as 370A or rs3827760, is found predominantly in East Asian and Native American populations. This mutation has been linked to traits such as thicker hair shafts, more numerous sweat glands, and certain facial features .

The 370A mutation in EDAR is believed to have arisen around 35,000 years ago in central China. It became dominant among ancient Northern East Asians shortly after the Last Glacial Maximum, around 19,000 years ago . This mutation may have been adaptive in cool and dry environments by increasing skin lubrication and reducing dryness in exposed facial structures .

Human recombinant EDAR is produced using recombinant DNA technology, which involves inserting the human EDAR gene into a suitable expression system, such as bacteria or mammalian cells. This allows for the production of large quantities of the receptor for research and therapeutic purposes. Recombinant EDAR is used in various studies to understand its role in development, disease, and potential therapeutic applications.