ArticleBMC genomics2010
Knobbed acrosome defect is associated with a region containing the genes STK17b and HECW2 on porcine chromosome 15.
Article in BMC genomics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 36 citations in OpenAlex.
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- Standardization of the Assessment of Bovine Spermatozoal Abnormalities, in Relation to Fertility, as Part of the Bull Breeding Soundness Examination.Advances in anatomy, embryology, and cell biology · 2025Article
- Bull Sperm Abnormalities in Practice.Advances in anatomy, embryology, and cell biology · 2025Review
- Biomarker-based human and animal sperm phenotyping: the good, the bad and the ugly†.Biology of reproduction · 2024Review
- Risk of Sperm Disorders and Impaired Fertility in Frozen-Thawed Bull Semen: A Genome-Wide Association Study.Animals : an open access journal from MDPI · 2024Article
- Determinant genetic markers of semen quality in livestock.Frontiers in endocrinology · 2024Review
- Reproduction in South American wild canids-A review.Frontiers in veterinary science · 2022Review
- An Exploration of Current and Perspective Semen Analysis and Sperm Selection for Livestock Artificial Insemination.Animals : an open access journal from MDPI · 2021Review
- STK17B promotes the progression of ovarian cancer.Annals of translational medicine · 2021Article
- NEDD4-like ubiquitin ligase 2 protein (NEDL2) in porcine spermatozoa, oocytes, and preimplantation embryos and its role in oocyte fertilization†.Biology of reproduction · 2021Article
- The Role of Sperm Morphology Standards in the Laboratory Assessment of Bull Fertility in Australia.Frontiers in veterinary science · 2021Review
- Genome-wide association analysis uncovers variants for reproductive variation across dog breeds and links to domestication.Evolution, medicine, and public health · 2019Article
- Weighted single-step GWAS and gene network analysis reveal new candidate genes for semen traits in pigs.Genetics, selection, evolution : GSE · 2018Article
- Boar management and semen handling factors affect the quality of boar extended semen.Porcine health management · 2017Review
- Genome-wide association studies identify the loci for 5 exterior traits in a Large White × Minzhu pig population.PloS one · 2014Article
- New insights to the ubiquitin-proteasome pathway (UPP) mechanism during spermatogenesis.Molecular biology reports · 2013Review
- Progress of genome wide association study in domestic animals.Journal of animal science and biotechnology · 2012Article
- Genome-wide association study implicates testis-sperm specific FKBP6 as a susceptibility locus for impaired acrosome reaction in stallions.PLoS genetics · 2012Article
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMale 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.
resultsCharacterization 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.
conclusionsIn 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.
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