NF-κB is a master regulator of inflammation and has been implicated in the pathogenesis of immune disorders and cancer. Its regulation involves a variety of steps, including the controlled degradation of inhibitory IκB proteins. In addition, the inactivation of DNA-bound NF-κB is essential for its regulation. This step requires a factor known as copper metabolism Murr1 domain–containing 1 (COMMD1), the prototype member of a conserved gene family. While COMMD proteins have been linked to the ubiquitination pathway, little else is known about other family members. Here we demonstrate that all COMMD proteins bind to CCDC22, a factor recently implicated in X-linked intellectual disability (XLID). We showed that an XLID-associated
Petro Starokadomskyy, Nathan Gluck, Haiying Li, Baozhi Chen, Mathew Wallis, Gabriel N. Maine, Xicheng Mao, Iram W. Zaidi, Marco Y. Hein, Fiona J. McDonald, Steffen Lenzner, Agnes Zecha, Hans-Hilger Ropers, Andreas W. Kuss, Julie McGaughran, Jozef Gecz, Ezra Burstein
Title and authors | Publication | Year |
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Copper Metabolism Domain-containing 1 Represses Genes that Promote Inflammation and Protects Mice From Colitis and Colitis-associated Cancer
H Li, L Chan, P Bartuzi, SD Melton, A Weber, S Ben-Shlomo, C Varol, M Raetz, X Mao, P Starokadomskyy, S Sommeren, M Mokadem, H Schneider, R Weisberg, HJ Westra, T Esko, A Metspalu, V Kumar, WA Faubion, F Yarovinsky, M Hofker, C Wijmenga, M Kracht, L Franke, V Aguirre, RK Weersma, N Gluck, B de Sluis, E Burstein |
Gastroenterology | 2014 |
COMMD1 is linked to the WASH complex and regulates endosomal trafficking of the copper transporter ATP7A
CA Phillips-Krawczak, A Singla, P Starokadomskyy, Z Deng, DG Osborne, H Li, CJ Dick, TS Gomez, M Koenecke, JS Zhang, H Dai, LF Sifuentes-Dominguez, LN Geng, SH Kaufmann, MY Hein, M Wallis, J McGaughran, J Gecz, B Sluis, DD Billadeau, E Burstein |
Molecular biology of the cell | 2014 |
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome
M Kolanczyk, P Krawitz, J Hecht, A Hupalowska, M Miaczynska, K Marschner, C Schlack, D Emerich, K Kobus, U Kornak, PN Robinson, B Plecko, G Grangl, S Uhrig, S Mundlos, D Horn |
European Journal of Human Genetics | 2014 |