Journal article
KATNB1 in the human testis and its genetic variants in fertile and oligoasthenoteratozoospermic infertile men
L O'Donnell, RI McLachlan, DJ Merriner, MK O'Bryan, D Jamsai
Andrology | WILEY-BLACKWELL | Published : 2014
DOI: 10.1111/andr.276
Abstract
Oligoasthenoteratozoospermia (OAT) is a phenotype frequently observed in infertile men, and is defined by low spermatozoa number, abnormal spermatozoa morphology and poor motility. We previously showed that a mutation in the Katnb1 gene in mice causes infertility because of OAT. The KATNB1 gene encodes an accessory subunit of the katanin microtubule-severing enzyme complex; this accessory subunit is thought to modulate microtubule-severing location and activity. We hypothesized that KATNB1 may play a role in human spermatogenesis and that genetic variants in KATNB1 could be associated with OAT in humans. Using immunostaining, we defined the localization of the KATNB1 protein in human testes...
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Awarded by National Health and Medical Research Council (NHMRC)
Funding Acknowledgements
We thank Alicia Grealy for technical assistance. This work was supported in part by the National Health and Medical Research Council (NHMRC) grant (#606445), the Victorian State Government Operational Infrastructure Scheme and the Monash IVF Research and Education Foundation. M.K.O.B. and R. I. M. L. are recipients of Fellowships from the NHMRC. Author contributions: DJ, LOD and MKOB designed the study. LOD, DJ, and DJM performed the analysis. LOD, DJ, MKOB and RMcL wrote the manuscript.