Knobbed acrosome defect is associated with a region containing the genes STK17b and HECW2 on porcine chromosome 15

Show full item record



Permalink

http://hdl.handle.net/10138/163489

Citation

Sironen , A , Uimari , P , Nagy , S , Paku , S , Andersson , M & Vilkki , J 2010 , ' Knobbed acrosome defect is associated with a region containing the genes STK17b and HECW2 on porcine chromosome 15 ' , BMC Genomics , vol. 11 , no. art. 699 , 699 . https://doi.org/10.1186/1471-2164-11-699

Title: Knobbed acrosome defect is associated with a region containing the genes STK17b and HECW2 on porcine chromosome 15
Author: Sironen, Anu; Uimari, Pekka; Nagy, Szabolcs; Paku, Sandor; Andersson, Magnus; Vilkki, Johanna
Contributor: University of Helsinki, Department of Agricultural Sciences
Date: 2010-12-09
Language: eng
Number of pages: 8
Belongs to series: BMC Genomics
ISSN: 1471-2164
URI: http://hdl.handle.net/10138/163489
Abstract: BACKGROUND: Male infertility is an increasing problem in all domestic species including man. Localization and identification of genes involved in defects causing male infertility provide valuable information of specific events in sperm development. Correct condensation of the sperm head and development of the acrosome are required for fertile sperm. In the Finnish Yorkshire pig population a knobbed acrosome defect (KAD) has been reported which appears to be of genetic origin. In previous studies we have shown that a large number of affected spermatozoa have a cystic swelling anterior to the apical part of the acrosome. RESULTS: Characterization of the knobbed acrosome affected sperm revealed that both the acrosomal granules and chromatin are affected. This type of KAD appears to be a previously unknown and serious form of the defect. A genome wide scan with PorcineSNP60 Genotyping BeadChip defined the KAD associated region within 0.7 Mbp on porcine chromosome 15. Two genes, STK17b and HECW2, located within this region were sequenced. The expression of these genes appeared comparable in KA-affected and control boars. The known function of HECW2 in acrosome development highlighted this gene as a good candidate responsible for the KAD. One nonsynonymous SNP was identified within the HECW2 gene. However, as this mutation was found in homozygous state in individuals with normal sperm, this is not likely to be the causal mutation. CONCLUSIONS: In this study we identified two candidate genes for a severe defect affecting both the sperm acrosome and chromatin that causes infertility. One of these genes, HECW2, plays an important role in ubiquitination, a prerequisite for chromatin remodelling and acrosome formation, highlighting the involvement of this gene in the knobbed acrosome defect and male infertility.
Subject: 413 Veterinary science
Rights:


Files in this item

Total number of downloads: Loading...

Files Size Format View
art_3A10.1186_2F1471_2164_11_699.pdf 1.226Mb PDF View/Open

This item appears in the following Collection(s)

Show full item record