A Heterozygous Mutation in the Third Transmembrane Domain Causes a Dominant-Negative Effect on Signalling Capability of the MC4R | Zendy

Patrick Tarnow | Zendy; Anne Rediger | Zendy; Harald Brumm | Zendy; Petra Ambrugger | Zendy; Eva Rettenbacher | Zendy; Kurt Widhalm | Zendy; Anke Hinney | Zendy; Gunnar Kleinau | Zendy; Michael Schaefer | Zendy; Johannes Hebebrand | Zendy; Gerd Krause | Zendy; Annette Gr uuml ters | Zendy; Heike Biebermann | Zendy

Open Access

A Heterozygous Mutation in the Third Transmembrane Domain Causes a Dominant-Negative Effect on Signalling Capability of the MC4R

Author(s) -

Patrick Tarnow,

Anne Rediger,

Harald Brumm,

Petra Ambrugger,

Eva Rettenbacher,

Kurt Widhalm,

Anke Hinney,

Gunnar Kleinau,

Michael Schaefer,

Johannes Hebebrand,

Gerd Krause,

Annette Gr uuml ters,

Heike Biebermann

Publication year - 2008

Publication title -

obesity facts

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.398

H-Index - 45

eISSN - 1662-4033

pISSN - 1662-4025

DOI - 10.1159/000138251

Subject(s) - mutation , transmembrane domain , receptor , mutant , förster resonance energy transfer , helix (gastropod) , signal transduction , transmembrane protein , genetics , medicine , gene , biology , fluorescence , ecology , physics , quantum mechanics , snail

Heterozygous MC4R mutation is the most frequent cause of monogenic obesity. For most MC4R mutations a gene dosage effect seems to be the underlying mechanism. However, a dominant negative effect of a heterozygous MC4R mutation was recently identified, pointing to an additional mechanism of MC4R inactivation.

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