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Differentiation. 2014 Mar-Apr;87(3-4):161-71. doi: 10.1016/j.diff.2014.04.001. Epub 2014 Jun 18.

Novel roles of Pkd2 in male reproductive system development.

Author information

1
Department of Pathology, Johns Hopkins University, Ross 632 E, 720 Rutland Ave, Baltimore, MD 21205, USA. Electronic address: Xuguang.nie@gmail.com.
2
Department of Pathology, Johns Hopkins University, Ross 632 E, 720 Rutland Ave, Baltimore, MD 21205, USA. Electronic address: ljarend@jhu.edu.

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common inherited genetic diseases, caused by mutations in PKD1 and/ or PKD2. Infertility and reproductive tract abnormalities in male ADPKD patients are very common and have higher incidence than in the general population. In this work, we reveal novel roles of Pkd2 for male reproductive system development. Disruption of Pkd2 caused dilation of mesonephric tubules/efferent ducts, failure of epididymal coiling, and defective testicular development. Deletion of Pkd2 in the epithelia alone was sufficient to cause reproductive tract defects seen in Pkd2(-/-) mice, suggesting that epithelial Pkd2 plays a pivotal role for development and maintenance of the male reproductive tract. In the testis, Pkd2 also plays a role in interstitial tissue and testicular cord development. In-depth analysis of epithelial-specific knockout mice revealed that Pkd2 is critical to maintain cellular phenotype and developmental signaling in the male reproductive system. Taken together, our data for the first time reveal novel roles for Pkd2 in male reproductive system development and provide new insights in male reproductive system abnormality and infertility in ADPKD patients.

KEYWORDS:

Efferent duct; Epididymis; Mice; Polycystic kidney disease; Polycystin-2; Testis

PMID:
24951251
PMCID:
PMC5008033
DOI:
10.1016/j.diff.2014.04.001
[Indexed for MEDLINE]
Free PMC Article
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