Cadherin-like and PC-esterase domain containing 1 (CPED1) is an uncharacterized gene with no known function. Human genome wide association studies (GWAS) for bone mineral density (BMD) have repeatedly identified a significant locus on Chromosome 7 that contains the gene CPED1, but it remains unclear if this gene could be causative. While an open reading frame for this gene has been predicted, there has been no systematic exploration of expression or alternate splicing for CPED1 in humans or mice.Using mouse models, we demonstrate that Cped1 is alternately spliced whereby transcripts are generated with exon 3 or exons 16 and 17 removed. In calvarial-derived pre-osteoblasts, Cped1 utilizes the predicted promoter upstream of exon 1 as well as alternate promoters upstream of exon 3 and exon 12.Lastly, we have determined that some transcripts terminate at the end of exon 10 and therefore do not contain the cadherin like and the PC esterase domains.Together, these data suggest that multiple protein products may be produced by this gene, with some products either lacking or containing both the predicted functional domains. Our data provide a framework upon which future functional studies will be built to understand the role of this gene in bone biology.

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Keywords Alternative splicing, Tissue expression profile, Uncharacterized gene
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Journal Gene
Maynard, R.D. (Robert D.), Godfrey, D.A. (Dana A.), Medina-Gomez, M.C, & Ackert-Bicknell, C.L. (Cheryl L.). (2018). Characterization of expression and alternative splicing of the gene cadherin-like and PC esterase domain containing 1 (Cped1). Gene, 674, 127–133. doi:10.1016/j.gene.2018.06.060