Article
A heterozygous mutation in the third transmembrane domain causes a dominant-negative effect on signalling capability of the MC4R.
Obesity facts - 1 Jan 2008
Tarnow Patrick, Rediger Anne, Brumm Harald, Ambrugger Petra, Rettenbacher Eva, Widhalm Kurt, Hinney Anke, Kleinau Gunnar, Schaefer Michael, Hebebrand Johannes, Krause Gerd, Grüters Annette, Biebermann Heike
Abstract excerpt
BACKGROUND: 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. METHODS: The complete loss-of-function mutation (Ser136Phe), identified in a cohort of obese...
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