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A deficiency of lunatic fringe is associated with cystic dilation of the rete testis

¹ School of Life Sciences, Arizona State University, Box 874501, Tempe, Arizona 85287-4501, USA² , Molecular and Cellular Graduate Program³ Biology Graduate Program, Arizona State University, Tempe, Arizona 85287-4601, USA⁴ , The Center of Infectious Disease and Vaccinology⁵ The Center for Evolutionary and Functional Genomics, The Biodesign Institute, Arizona State University, Tempe, Arizona, 85287-5001 USA⁶ Center for Reproductive Biology, School of Molecular Biosciences, Washington State University, Pullman, Washington, USA⁷ Department of Basic Medical Sciences, College of Medicine-Phoenix in partnership with Arizona State University, University of Arizona, Phoenix, Arizona, 85004-2157 USA

Correspondence should be addressed to J Wilson-Rawls; Email: jeanne.wilson-rawls{at}asu.edu

K L Hahn is now at Yale Stem Cell Center, Yale University School of Medicine, 10 Amistad Street, Rm. 214i, New Haven, Connecticut 06509, USA

Lunatic fringe belongs to a family of β1–3 N-acetyltransferases that modulate the affinity of the Notch receptors for their ligands through the elongation of O-fucose moieties on their extracellular domain. A role for Notch signaling in vertebrate fertility has been predicted by the intricate expression of the Notch receptors and their ligands in the oocyte and granulosa cells of the ovary and the spermatozoa and Sertoli cells of the testis. It has been demonstrated that disruption of Notch signaling by inactivation of lunatic fringe led to infertility associated with pleiotropic defects in follicle development and meiotic maturation of oocytes. Lunatic fringe null males were found to be subfertile. Here, we report that gene expression data demonstrate that fringe and Notch signaling genes are expressed in the developing testis and the intratesticular ductal tract, predicting roles for this pathway during embryonic gonadogenesis and spermatogenesis. Spermatogenesis was not impaired in the majority of the lunatic fringe null males; however, spermatozoa were unilaterally absent in the epididymis of many mice. Histological and immunohistochemical analysis of these testes revealed the development of unilateral cystic dilation of the rete testis. Tracer dye experiments confirm a block in the connection between the rete testis and the efferent ducts. Further, the dye studies demonstrated that many lunatic fringe mutant males had partial blocks of the connection between the rete testis and the efferent ducts bilaterally.