Published ahead of print on November 20, 2003, doi:10.1165/rcmb.2003-0338RC Am. J. Respir. Cell Mol. Biol., Volume 30, Number 4, April 2004, 428-434 A more recent version of this article appeared on April 1, 2004
Submitted on September 15, 2003 Investigation of the possible role of a novel gene, DPCD, in Primary Ciliary DyskinesiaMaimoona Zariwala1,1 Pathology, University of North Carolina, Chapel Hill, NC, USA, 2 Cystic Fibrosis/Pulmonary Research and Treatment Center, University of North Carolina, Chapel Hill, NC, USA; Medicine, University of North Carolina, Chapel Hill, NC, USA, 3 Medicine, University of North Carolina, Chapel Hill, NC, USA, 4 Pediatrics, University of North Carolina, Chapel Hill, NC, USA * To whom correspondence should be addressed. E-mail: ostro{at}med.unc.edu.
Primary ciliary dyskinesia (PCD) is an autosomal recessive disease caused by mutations that affect the proper function of cilia. Recently, deletion of DNA polymerase
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(Poll) in mice produced a phenotype characteristic of PCD (Kobayashi et al. 2002, Mol. Cell. Biol). Because it is unclear how a mutation in a DNA polymerase would result in a specific defect in axonemes, the targeting construct was examined further. Analysis of the genomic region surrounding the Poll gene revealed an uncharacterized gene, named Dpcd, that is predicted to be transcribed from the opposite strand relative to Poll. The deletion of Poll would also remove the first exon of Dpcd. Because it is possible that the PCD phenotype observed is due to the absence of either gene, the expression of these genes during ciliogenesis of human airway epithelial cells was examined. Northern analysis demonstrated that DPCD expression increases during ciliated cell differentiation; the expression of POLL decreases. To examine directly whether DPCD is mutated in cases of human PCD, the complete coding sequence of DPCD was sequenced from 51 unrelated PCD patients. No disease causing mutations were confirmed, however one variant could not be excluded. Therefore, DPCD remains a novel candidate gene for PCD.
