Related Experiment Video
Updated: May 29, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
BoLA-DRB3 exon 2 mutations associated with paratuberculosis in cattle
Mucha Rastislav1, Bhide Mangesh
1Institute of Neuroimmunology, Slovak Academy of Sciences, Bratislava, Slovakia.
Bovine leucocyte antigen (BoLA) DRB3 gene mutations were analyzed for links to Mycobacterium avium subsp. paratuberculosis (MAP) susceptibility in cattle. Specific BoLA DRB3 gene variations significantly correlate with increased or decreased susceptibility to MAP infection.
Area of Science:
- Veterinary Immunology
- Bovine Genetics
- Infectious Disease Research
Background:
- Bovine leucocyte antigen (BoLA) DRB3 gene plays a crucial role in immune responses.
- Mycobacterium avium subsp. paratuberculosis (MAP) causes Johne's disease, a significant economic burden in cattle farming.
- Understanding genetic susceptibility to MAP is vital for disease control strategies.
Purpose of the Study:
- To investigate the association between single nucleotide polymorphisms (SNPs) in the BoLA DRB3 gene and susceptibility to MAP infection in cattle.
- To identify specific BoLA DRB3 genotypes linked to increased or decreased resistance to MAP.
Main Methods:
- Genotyping of the BoLA DRB3 gene using PCR-single strand conformational polymorphism (SSCP) analysis in 200 cattle.
- Statistical analysis to determine the correlation between BoLA DRB3 genotypes and MAP infection status.
- Assessment of mutations within the antigen recognition site (ARS) of the BoLA DRB3 protein.
Main Results:
- 19.6% of the sampled cattle were infected with MAP.
- Nineteen distinct BoLA DRB3 genotypes were identified (16 heterozygous, 3 homozygous).
- Mutations Val53Glu, Val53Leu, Asp57His, and Arg84Gly were significantly associated with increased MAP susceptibility (ORs ranging from 1.458 to 453.7).
- Mutations Asp57Asn and Phe60Tyr were associated with increased resistance to MAP (ORs of 0 and 0.453, respectively).
Conclusions:
- Specific polymorphisms within the BoLA DRB3 gene's antigen recognition site are strongly linked to cattle susceptibility or resistance to MAP infection.
- These identified BoLA DRB3 mutations may influence the protein-binding capabilities crucial for an effective immune response against MAP.
- The findings suggest BoLA DRB3 genotyping could be a valuable tool for breeding cattle with enhanced resistance to Johne's disease.
Related Concept Videos
Inflammatory Bowel Disease III: Crohn's Disease
Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Exon Recombination
Exon shuffling follows “splice frame rules.” Each exon has three reading...
Pulmonary Tuberculosis II
Here is a detailed explanation of its pathophysiology:
Transmission: The process begins when a person inhales droplet nuclei containing M. tuberculosis. These are typically released into the air when an individual with pulmonary or...
Pulmonary Tuberculosis III
The first classification is based on the development of the disease, and it includes the following categories:

