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Gene promoter polymorphisms in boar spermatozoa differing in freezability
Paweł Brym1, Karolina Wasilewska-Sakowska2, Marzena Mogielnicka-Brzozowska3
1Department of Animal Genetics, Faculty of Animal Bioengineering, University of Warmia and Mazury in Olsztyn, 10-719, Olsztyn, Poland.
Theriogenology
|March 18, 2021
Summary
Researchers identified genetic variations in boar sperm DNA that impact gene activity and semen quality. These variants could serve as markers to predict sperm freezability, aiding in animal breeding and conservation efforts.
Area of Science:
- Genetics and genomics
- Reproductive biology
- Bioinformatics
Background:
- Genetic variations, specifically single nucleotide polymorphisms (SNPs) in gene regulatory regions, can influence gene expression.
- Boar spermatozoa quality, particularly freezability, is crucial for artificial insemination and requires understanding underlying genetic factors.
- Previous studies suggest a link between genetic makeup and semen quality, necessitating further investigation into specific gene regulatory regions.
Purpose of the Study:
- To identify polymorphic variants in the 5'-flanking regulatory regions of genes expressed in boar spermatozoa.
- To predict the impact of these variants on gene promoter activity and transcription factor (TF) interactions using bioinformatics.
- To correlate identified variants with differences in semen freezability between boars with good and poor semen freezability (GSF and PSF).
Main Methods:
- Classification of boars into GSF and PSF groups based on post-thaw sperm motility and membrane integrity.
- PCR amplification and Sanger sequencing of the 5'-flanking regions of 14 selected genes.
- Bioinformatic analysis including multiple sequence alignment and prediction of TF binding affinity changes.
Main Results:
- Identified 32 polymorphic variants, including 4 insertion/deletion (indel) polymorphisms and 8 novel SNPs.
- A 26-bp indel in the LARS2 gene's 5'-flanking region was associated with higher protein expression in PSF group spermatozoa.
- 17 polymorphic variants in differentially expressed genes showed significant allele frequency differences between GSF and PSF groups, affecting TF binding affinity.
Conclusions:
- Polymorphic variants in the 5'-flanking regulatory regions of boar spermatozoa genes influence transcriptional activity and TF interactions.
- These allelic variants are potential genetic markers for predicting boar spermatozoa freezability.
- The findings provide insights into the molecular mechanisms underlying variations in boar sperm quality.
