Related Experiment Video
Updated: May 27, 2026
10:16
Accurate and Phenol Free DNA Sexing of Day 30 Porcine Embryos by PCR
Published on: February 14, 2016
An exonic insertion within Tex14 gene causes spermatogenic arrest in pigs
Anu Sironen1, Pekka Uimari, Heli Venhoranta
1Agrifood Research Finland, MTT, Biotechnology and Food Research, Genomics, FI-36100 Jokioinen, Finland. anu.sironen@mtt.fi
BMC Genomics
|December 6, 2011
Summary
A genetic defect causing male infertility in Finnish Yorkshire boars was identified. A mutation in the TEX14 gene leads to spermatogenic arrest and absence of sperm, highlighting its crucial role in sperm development.
Area of Science:
- Animal Genetics
- Reproductive Biology
- Genomics
Background:
- Male infertility is a growing concern in domestic animals and humans.
- Understanding the genetic basis of male infertility is crucial for improving reproductive success.
- Spermatogenesis, the process of sperm development, requires precise gene expression and function.
Purpose of the Study:
- To identify the genetic region associated with spermatogenic arrest in Finnish Yorkshire boars.
- To pinpoint the causal mutation responsible for male infertility in this population.
Main Methods:
- Genome-wide scan using the PorcineSNP60 Beadchip to localize the defect.
- Candidate gene sequencing to identify the causative mutation.
- Gene expression analysis (Western blotting) to assess protein levels.
Main Results:
- The spermatogenic arrest defect was mapped to a 2 Mbp region on porcine chromosome 12.
- A 51 bp insertion in exon 27 of the TEX14 gene was identified as the causal mutation.
- TEX14 expression was significantly reduced in affected boars, with no detectable protein product.
Conclusions:
- A causal mutation in the TEX14 gene has been identified for male infertility due to spermatogenic arrest.
- This study underscores the critical role of TEX14 in mammalian spermatogenesis.
- Genomic remodeling events can cause inherited defects affecting fertility.
Related Concept Videos
01:33Pleiotropy
Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
01:16In-vitro Mutagenesis
To learn more about the function of a gene, researchers can observe what happens when the gene is inactivated or “knocked out,” by creating genetically engineered knockout animals. Knockout mice have been particularly useful as models for human diseases such as cancer, Parkinson’s disease, and diabetes.