ArticleBMC genomics2011
An exonic insertion within Tex14 gene causes spermatogenic arrest in pigs.
Article in BMC genomics, 2011. 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, 32 citations in OpenAlex.
- The formation and function of intercellular bridges in male germlines.Communications biology · 2026Review
- Determinant genetic markers of semen quality in livestock.Frontiers in endocrinology · 2024Review
- F1 Male Sterility in Cattle-Yak Examined through Changes in Testis Tissue and Transcriptome Profiles.Animals : an open access journal from MDPI · 2022Article
- Uncoupling cell division and cytokinesis during germline development in metazoans.Frontiers in cell and developmental biology · 2022Review
- Infertility due to defective sperm flagella caused by an intronic deletion in DNAH17 that perturbs splicing.Genetics · 2021Article
- Molecular Biology of Spermatogenesis: Novel Targets of Apparently Idiopathic Male Infertility.International journal of molecular sciences · 2020Review
- New insights into the genetics of spermatogenic failure: a review of the literature.Human genetics · 2019Review
- Genetic defects in human azoospermia.Basic and clinical andrology · 2019Article
- Expression analysis of genes encodingJBRA assisted reproduction · 2018Article
- Dynamic cytoplasmic projections connect mammalian spermatogoniaDevelopment (Cambridge, England) · 2018Article
- ESCRT-dependent control of membrane remodelling during cell division.Seminars in cell & developmental biology · 2018Review
- Detection of genomic structural variations in Guizhou indigenous pigs and the comparison with other breeds.PloS one · 2018Article
- A familial study of azoospermic men identifies three novel causative mutations in three new human azoospermia genes.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Boar management and semen handling factors affect the quality of boar extended semen.Porcine health management · 2017Review
- A frameshift mutation in ARMC3 is associated with a tail stump sperm defect in Swedish Red (Bos taurus) cattle.BMC genetics · 2016Article
- Identification of Reproduction-Related Gene Polymorphisms Using Whole Transcriptome Sequencing in the Large White Pig Population.G3 (Bethesda, Md.) · 2015Article
- Transcriptome Analysis in Domesticated Species: Challenges and Strategies.Bioinformatics and biology insights · 2015Review
- A nonsense mutation in TMEM95 encoding a nondescript transmembrane protein causes idiopathic male subfertility in cattle.PLoS genetics · 2014Article
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Authors and funding
5 authors at 2 institutions in 1 country.
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. Sperm development is a complex process, where diploid spermatogonia develop into haploid, highly specialized spermatozoa. Correct expression and function of various genes and their protein products are required for production of fertile sperm. We have identified an infertility defect in Finnish Yorkshire boars caused by spermatogenic arrest. The aim of this study was to locate the disease associated region using genome wide screen with the PorcineSNP60 Beadchip and identify the causal mutation by candidate gene approach.
resultsIn the Finnish Yorkshire pig population the spermatogenic arrest (SA) defect appears to be of genetic origin and causes severe degeneration of germ cells and total absence of spermatozoa. Genome wide scan with the PorcineSNP60 Beadchip localized the SA defect to porcine chromosome 12 in a 2 Mbp region. Sequencing of a candidate gene Tex14 revealed a 51 bp insertion within exon 27, which caused differential splicing of the exon and created a premature translation stop codon. The expression of Tex14 was markedly down regulated in the testis of a SA affected boar compared to control boars and no protein product was identified by Western blotting. The SA insertion sequence was also found within intron 27 in all analyzed animals, thus the insertion appears to be a possible duplication event.
conclusionIn this study we report the identification of a causal mutation for infertility caused by spermatogenic arrest at an early meiotic phase. Our results highlight the role of TEX14 specifically in spermatogenesis and the importance of specific genomic remodeling events as causes for inherited defects.
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