title: The Popeye Domain Containing Genes and their Function in Striated Muscle.
abstract: The Popeye domain containing (POPDC) genes encode a novel class of cAMP effector proteins, which are abundantly expressed in heart and skeletal muscle. Here we will review their role in striated muscle as deduced from work in cell and animal models and the recent analysis of patients carrying a missense mutation inPOPDC1. Evidence suggests that POPDC proteins control membrane trafficking of interacting proteins. Furthermore, we will discuss the current catalogue of established protein-protein interactions. In recent years, the number of POPDC-interacting proteins is rising and currently includes ion channels (TREK-1), sarcolemma-associated proteins serving functions in mechanical stability (Dystrophin), compartmentalization (Caveolin 3), scaffolding (ZO-1), trafficking (NDRG4, VAMP2/3) and repair (Dysferlin), or acting as a guanine nucleotide exchange factor for Rho-family GTPases (GEFT). Recent evidence suggests that POPDC proteins might also control the cellular level of the nuclear proto-oncoprotein c-Myc. These data suggests that this family of cAMP-binding proteins probably serves multiple roles in striated muscle.
authors.affiliation: Developmental Dynamics, Harefield Heart Science Centre, National Heart and Lung Institute, Imperial College London, Hill End Road, Harefield, UB9 6JH, United Kingdom.
authors.forename: Roland Fr
authors.initials: RF
authors.lastname: Schindler
authors.affiliation: Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Scotton
authors.affiliation: Developmental Dynamics, Harefield Heart Science Centre, National Heart and Lung Institute, Imperial College London, Hill End Road, Harefield, UB9 6JH, United Kingdom.
authors.forename: Vanessa
authors.initials: V
authors.lastname: French
authors.affiliation: Medical Genetics Unit, Department of Medical Sciences, University of Ferrara, 44121 Ferrara, Italy.
authors.forename: Alessandra
authors.initials: A
authors.lastname: Ferlini
authors.affiliation: Developmental Dynamics, Harefield Heart Science Centre, National Heart and Lung Institute, Imperial College London, Hill End Road, Harefield, UB9 6JH, United Kingdom.
authors.forename: Thomas
authors.initials: T
authors.lastname: Brand
keywords: atrioventricular block; cardiac arrhythmia; cyclic AMP; limb-girdle muscular dystrophy; membrane protein; membrane trafficking; sinus bradycardia