Loss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesia.

ABSTRACT: Primary ciliary dyskinesia (PCD) results from defects in motile cilia function. Mice homozygous for the mutation big giant head (bgh) have several abnormalities commonly associated with PCD, including hydrocephalus, male infertility, and sinusitis. In the present study, we use a variety of histopathological and cell biological techniques to characterize the bgh phenotype, and we identify the bgh mutation using a positional cloning approach. Histopathological, immunofluorescence, and electron microscopic analyses demonstrate that the male infertility results from shortened flagella and disorganized axonemal and accessory structures in elongating spermatids and mature sperm. In addition, there is a reduced number of elongating spermatids during spermatogenesis and mature sperm in the epididy

SUBMITTER: Sironen A 

PROVIDER: S-EPMC3184289 | biostudies-literature | 2011 Oct

REPOSITORIES: biostudies-literature