Male reproductive system defects and subfertility in a mutant mouse model of oculodentodigital dysplasia.

M. Gregory; C. N. Kahiri; K. J. Barr; C. E. Smith; L. Hermo; D. G. Cyr; G. M. Kidder

Male reproductive system defects and subfertility in a mutant mouse model of oculodentodigital dysplasia.

M. Gregory ¹ C. N. Kahiri ² K. J. Barr ³ C. E. Smith ⁴ L. Hermo ⁵ D. G. Cyr ¹ G. M. Kidder ^{2, 3, *}

* Corresponding author

1 INRS-IAF - Institut Armand Frappier

2 Children's Health Research Institute

3 Department of Physiology and Pharmacology

4 Facility for Electron Microscopy Research and Faculty of Dentistry

5 Department of Anatomy and Cell Biology [Montréal]

Abstract : Oculodentodigital dysplasia (ODDD) is a dysmorphogenesis syndrome resulting from mutations in the GJA1 gene encoding the gap junction protein, connexin43 (CX43). In the testis this connexin localizes between Leydig cells, Sertoli cells and between Sertoli cells and germ cells. It is essential for Sertoli cell differentiation and spermatogenesis. This study explored male fertility in Gja1(Jrt) /+ mice which carry a dominant mutation that causes an amino acid substitution (G60S) in CX43. Gja1(Jrt) /+ mice mimic the phenotype of ODDD. Immunodetection methods revealed a reduction of both total CX43 and CX43 in membrane plaques in mutant testes. Correspondingly, intercellular coupling along the tubules was diminished as revealed by fluorescent dye transfer. Light and electron microscopy revealed loss of germ cells and sloughing of germ cells into the tubular lumen. There were also irregularities in size and shape of Sertoli cell nuclei. Analyses of cauda epididymal sperm indicated significant decreases in sperm count and sperm velocity parameters associated with sperm vigour, and significantly lower sperm head movement parameters associated with progressiveness. A significant decrease was also observed in total per cent motility. These results further confirm a critical role for CX43 in spermatogenesis and sperm maturation and support the possibility of subfertility in ODDD human males.

Document type :

Journal articles

Domain :

Life Sciences [q-bio] / Toxicology

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https://hal-riip.archives-ouvertes.fr/pasteur-00720842
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Submitted on : Wednesday, July 25, 2012 - 10:10:40 PM
Last modification on : Thursday, February 7, 2019 - 4:21:45 PM

Male reproductive system defects and subfertility in a mutant mouse model of oculodentodigital dysplasia.

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Male reproductive system defects and subfertility in a mutant mouse model of oculodentodigital dysplasia.

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