Exon 1 polymorphisms in the equine CSN3 gene: SNPs distribution analysis in Murgese horse breed.
Abstract: The aim of this study was to assess genetic polymorphism at two loci in the exon 1 of the CSN3 gene in Murgese horse breed by PCR-RFLP analysis. The overall frequencies of alleles A and G at c.-66A > G locus were 0.80 and 0.20, respectively, and no GG animals were found in the population. At the c.-36C > A locus allelic frequencies were 0.74 and 0.26 for allele C and A, respectively, and no AA animals were detected. Population genetic indexes, namely gene heterozygosity, gene homozygosity, effective allele numbers, fixation index, and polymorphism information index were calculated. Combined genotypic frequencies and possible haplotypes frequencies were also reported. Only three out of nine possible genotypic combinations were found in the studied population. The most frequent genotype was AACC (0.49) while the frequency of AGCA was 0.40. Only five animals were genotyped as AACA (11%). Consequently, the most frequent haplotype in the population was AC (0.744), followed by GA (0.200) and AA (0.056).
Publication Date: 2010-10-23 PubMed ID: 20967644DOI: 10.1080/10495398.2010.509646Google Scholar: Lookup
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- Journal Article
Summary
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The study investigated specific genetic variations located in the CSN3 gene of the Murgese horse breed. The researchers identified the presence and frequency of these variations within the breed and provided an analysis of the genetic diversity based on their findings.
Study Method and Focal Points
- The study focused on two specific genetic variations known as Single Nucleotide Polymorphisms (SNPs), found in the first exon of the CSN3 gene of the Murgese horse breed.
- Exons are the regions of a gene that get translated into a protein, and SNPs are variations at single points in the DNA sequence. The two studied SNPs were c.-66A > G and c.-36C > A.
- The researchers used a genetic analysis technique known as PCR-RFLP (Polymerase Chain Reaction – Restriction Fragment Length Polymorphism) to detect the presence and frequency of these SNPs in the horse population.
Study Findings
- In the Murgese horse population studied, at the c.-66A > G locus, 80% of the available gene copies (alleles) were A (adenine) and 20% were G (guanine). There were no GG animals detected in the population.
- At the c.-36C > A locus, 74% of the alleles were C (cytosine) and 26% were A (adenine). There were also no AA animals detected at this locus.
- The researchers calculated several measures of genetic variation including gene heterozygosity (the presence of different alleles at a particular locus), gene homozygosity (the presence of the same alleles at a particular locus), the effective number of alleles, the fixation index (a measure of how much a particular allele at a locus deviates from random expectation in a population) and the polymorphism information index (a measure of how informative a particular marker is for linkage analysis).
- They also calculated the combinations of genotype frequencies and possible haplotypes (a set of DNA variations that are inherited together).
Genotypic and Haplotypic Analysis
- They found that out of the nine possible combinations of the two SNPs, only three combinations were present in the horses they studied; AACC (most frequent), AGCA, and AACA (least frequent).
- Additionally, they identified the most frequent haplotype (a combination of alleles at different loci that are transmitted together on the same chromosome) to be AC, followed by GA and AA.
Through their detailed analysis on the SNPs distribution, the researchers provided a comprehensive genetic profile for the Murgese horse breed. This information can contribute to the wider understanding of horse genetics and breed diversity, and can provide reference points for future research in equine genetics.
Cite This Article
APA
Selvaggi M, Pesce Delfino AR, Dario C.
(2010).
Exon 1 polymorphisms in the equine CSN3 gene: SNPs distribution analysis in Murgese horse breed.
Anim Biotechnol, 21(4), 252-256.
https://doi.org/10.1080/10495398.2010.509646 Publication
Researcher Affiliations
- Department of Health and Welfare of Animals, University of Studies of Bari, Valenzano (Ba), Italy.
MeSH Terms
- Animals
- Caseins / genetics
- Chi-Square Distribution
- Exons
- Female
- Gene Frequency
- Haplotypes
- Horses / genetics
- Male
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Polymorphism, Single Nucleotide
- Sequence Analysis, DNA
- Species Specificity
Citations
This article has been cited 4 times.- Șuteu M, Vlaic A, Dărăban SV. Characterization of a Novel Porcine CSN2 Polymorphism and Its Distribution in Five European Breeds. Animals (Basel) 2019 Jul 4;9(7).
- Cieslak J, Wodas L, Borowska A, Pawlak P, Czyzak-Runowska G, Wojtowski J, Puppel K, Kuczynska B, Mackowski M. 5'-flanking variants of equine casein genes (CSN1S1, CSN1S2, CSN2, CSN3) and their relationship with gene expression and milk composition. J Appl Genet 2019 Feb;60(1):71-78.
- Cieslak J, Mackowski M, Czyzak-Runowska G, Wojtowski J, Puppel K, Kuczynska B, Pawlak P. Screening for the Most Suitable Reference Genes for Gene Expression Studies in Equine Milk Somatic Cells. PLoS One 2015;10(10):e0139688.
- Selvaggi M, Laudadio V, Dario C, Tufarelli V. Major proteins in goat milk: an updated overview on genetic variability. Mol Biol Rep 2014 Feb;41(2):1035-48.
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