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Background  SPAG16 is a critical structural component of motile cilia and flagella. In the eukaryotic unicellular algae  Chlamydomonas , loss of gene function causes flagellar paralysis and prevents assembly of the “9 + 2” axoneme central pair. In mice, we have previously shown that loss of  Spag16  gene function causes male infertility and severe sperm motility defects. We have also reported that a heterozygous mutation of the human  SPAG16  gene reduces stability of the sperm axonemal central apparatus.    Methods  In the present study, we analyzed DNA samples from 60 infertile male volunteers of Western European (Italian) origin, to search for novel  SPAG16  gene mutations, and to determine whether increased prevalence of  SPAG16  single nucleotide polymorphisms (SNPs) was associated with infertility phenotypes. Semen parameters were evaluated by light microscopy and sperm morphology was comprehensively analyzed by transmission electron microscopy (TEM).    Results  For gene analysis, sequences were generated covering exons encoding the conserved WD40 repeat region of the SPAG16 protein and the flanking splice junctions. No novel mutations were found, and the four SNPs in the assessed gene region were present at expected frequencies. The minor alleles were not associated with any assessed sperm parameter in the sample population.    Conclusions  Analysis of the  SPAG16  regions encoding the conserved WD repeats revealed no evidence for association of mutations or genetic variation with sperm motility and ultrastructural sperm characteristics in a cohort of Italian infertile males.

bmc urology

Genetic variation in SPAG16 regions encoding the WD40 repeats is not associated with reduced sperm motility and axonemal defects in a population of infertile males