Why the study?
To review the structure and function of Popeye domain-containing proteins in cAMP signalling and their role as disease genes in cardiac arrhythmia and muscular dystrophy.
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Design
Review
This review highlights the emerging role of POPDC proteins as cAMP effectors critical to striated muscle function and their implication in cardiac arrhythmias.
The Popeye domain-containing gene family encodes a novel class of cAMP effector proteins in striated muscle tissue. In this short review, we first introduce the protein family and discuss their structure and function with an emphasis on their role in cyclic AMP signalling. Another focus of this review is the recently discovered role of POPDC genes as striated muscle disease genes, which have been associated with cardiac arrhythmia and muscular dystrophy. The pathological phenotypes observed in patients will be compared with phenotypes present in null and knockin mutations in zebrafish and mouse. A number of protein-protein interaction partners have been discovered and the potential role of POPDC proteins to control the subcellular localization and function of these interacting proteins will be discussed. Finally, we outline several areas, where research is urgently needed.
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Thomas Brand (2019) studied this question.
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