Lack of interaction between between NEMO and SHARPIN impairs linear ubiquitination and NF-κB activation, and leads to incontinentia pigmenti.

Date publication

février 2017

Journal

The Journal of allergy and clinical immunology

Auteurs

Membres identifiés du Cancéropôle Est :
Pr VABRES Pierre

Tous les auteurs :
Bal E, Laplantine E, Hamel Y, Dubosclard V, Boisson B, Pesacatore A, Picard C, Hadj-Rabia S, Royer G, Steffann J, Bonnefont JP, Ursini VM, Vabres P, Munnich A, Casanova JL, Bodemer C, Weil R, Agou F, Smahi A

Lien Pubmed

https://www.ncbi.nlm.nih.gov/pubmed/28249776

Résumé

Incontinentia pigmenti (IP; MIM308300) is a severe, male-lethal, X-linked, dominant genodermatosis resulting from loss-of-function mutations in the IKBKG gene encoding NF-κB essential modulator (NEMO, the regulatory subunit of the IKK complex). In 80% of cases of IP, the deletion of exons 4 to 10 leads to the absence of NEMO and total inhibition of NF-κB signaling. Here, we described a new IKBKG mutation responsible for IP resulting in an inactive truncated form of NEMO.

Mots clés

IKBKG, Incontinentia pigmenti, NF-κB essential modulator, SHANK-associated RH domain–interacting protein, linear ubiquitin assembly complex, linear ubiquitination, nuclear factor κB

Référence

J. Allergy Clin. Immunol.. 2017 Feb;: