Abstract
The Popeye domain containing (POPDC) gene family encodes a novel class of membrane-bound cyclic AMP effector proteins. POPDC proteins are abundantly expressed in cardiac and skeletal muscle. Consistent with its predominant expression in striated muscle, Popdc1 and Popdc2 null mutants in mouse and zebrafish develop cardiac arrhythmia and muscular dystrophy. Likewise, mutations in POPDC genes in patients have been associated with cardiac arrhythmia and muscular dystrophy phenotypes. A membrane trafficking function has been identified in this context. POPDC proteins have also been linked to tumour formation. Here, POPDC1 plays a role as a tumour suppressor by limiting c-Myc and WNT signalling. Currently, a common functional link between POPDC’s role in striated muscle and as a tumour suppressor is lacking. We also discuss several alternative working models to better understand POPDC protein function.
Highlights
In 1999 the first member of the Popeye domain containing (POPDC) gene family was cloned in the chicken (Reese et al 1999), which was shortly followed by the isolation of the human gene (Reese et al 1999)
A hallmark of POPDC genes in vertebrate species is a strong expression in heart and skeletal muscle, which was demonstrated in multiple species using several different approaches i.e. Northern blot, RT-PCR, in situ hybridization, β-galactosidase (LacZ) staining and by immunohistochemistry using antibodies, which were validated to be nonreactive with null mutant tissue (Brand 2005; Froese et al 2012; Schindler et al 2016)
Another cyclic adenosine monophosphate (cAMP) effector protein, which is largely confined to spermatocytes and named cyclic nucleotide receptor involved in sperm function (CRIS) is involved in spermiogenesis and the control of flagellar bending (Krahling et al 2013)
Summary
In 1999 the first member of the Popeye domain containing (POPDC) gene family was cloned in the chicken (Reese et al 1999), which was shortly followed by the isolation of the human gene (Reese et al 1999) These authors named this gene blood vessel epicardial substance (Bves) based on the observed preferential expression of Bves protein in the developing epicardium and subsequently in the coronary vasculature (Hager et al 2010). A family of three isoforms, including Bves (which was named Pop by these authors) was independently isolated from the chicken, mouse and human heart and named as Popeye (POP) genes based on their preferential expression in striated muscle (skeletal and cardiac muscle) (Andrée et al 2000). BVESAS1 is not present in the murine genome and its role cannot be studied in this species
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