Sequence analysis of the equine SLC26A2 gene locus on chromosome 14q15–>q21.
Abstract: The solute carrier family 26, member 2 (SLC26A2) gene belongs to a family of multifunctional anion exchangers. Mutations in the human SLC26A2 gene are associated with autosomal recessively inherited chondrodysplasias. Hence, we postulate that the equine SLC26A2 could be a candidate gene for conformational traits in horses. An equine BAC clone harboring the SLC26A2 gene was isolated. The complete 142,625 bp insert sequence of this clone was determined by transposon sequencing. Together with the SLC26A2 gene the BAC clone contains four genes, i.e. the macrophage colony stimulating factor 1 receptor precursor (CSF1R), KIAA0194 protein gene similar to the SMF protein (KIAA0194), a tigger transposable element derived 14 (TIGD14), the 3'-5'-cyclic GMP phosphodiesterase alpha-chain (EC 3.1.4.35) and one unidentified open reading frame. The equine SLC26A2 gene encompassing 6,152 bp consists of two exons. The complete open reading frame of 2,211 bp encodes a protein of 736 amino acids. A comparison of the amino acid sequence with other mammalian orthologs revealed homologies with identity in a range between 80% and 88%. By contrast, the equine SLC26A2 protein lacks five C-terminal amino acids. Four single nucleotide polymorphisms (SNP) were identified (three synonymous and one non-synonymous variant Ser210Leu) in the coding region by comparative sequencing of 50 DNA samples representing the German Riding horse. Allele frequencies and distribution were further evaluated in a variety of different breeds: Arabians (for all four SNPs), Old Kladrub Horses, Draught Horses (including Westphalian Draught Horses, Rheinish Westphalian Draught Horses, Saxon-Thuringia Coldbloods, Altmarker Coldbloods), American Saddlebreds, Miniature Horses, Australian Riding Ponies, Appaloosa, Morgan Horses, and Lipizzaner for C629T (Ser210Leu) alone. No animal carrying the homozygous genotype TT has been detected. The overall frequency of the newly described variant T is low (between 2% and 6%). Simulation studies on the protein conformation predict structural protein changes mediated by the SNP.
Copyright (c) 2007 S. Karger AG, Basel.
Publication Date: 2007-09-29 PubMed ID: 17901700DOI: 10.1159/000106441Google Scholar: Lookup
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- Journal Article
Summary
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The study analyses a gene called SLC26A2 in horses, finding that certain changes in this gene could be linked to conformational traits. The research process involved isolating this gene, determining its sequence and further identifying four single-nucleotide polymorphisms (differences in individual DNA building blocks).
Research Methods and Findings
- Researchers isolated a BAC clone harboring the SLC26A2 gene in horses. The complete sequence of this clone was then figured out using transposon sequencing. This helped scientists in doing a comparative analysis of the SLC26A2 gene in horses with its counterparts in other mammals.
- The equine (horse) SLC26A2 gene is made up of 6,152 base pairs and is composed of two exons. The complete open reading frame of this gene is 2,211 base pairs long and encodes a protein made up of 736 amino acids. A comparison with the same gene in other mammals shows a high degree of similarity, ranging from 80-88%.
- The study identified that the equine SLC26A2 protein differs from others by lacking five C-terminal amino acids. The researchers discovered four single nucleotide polymorphisms (SNPs), which are essentially differences in individual DNA building blocks.
- The team then conducted a broader analysis to understand the distribution and frequency of these SNPs among different horse breeds. It was found that no horse carried the homozygous genotype TT for these SNPs. The overall appearance of the variant T was low, between 2% and 6%.
- A simulation study revealed that these SNPs are likely to cause changes in the structure of the protein, suggesting that they might have a significant impact on the horse’s conformation.
Significance of the Study
- This research study sheds light on the role of the SLC26A2 gene in horses and its potential correlation with the horse’s conformational traits. Understanding this correlation may provide valuable insights for breeding strategies aiming at optimal horse conformation.
- Identifying SNPs in this gene among different horse breeds provides a foundation for future research targeted at exploring the genetic basis of conformational differences in horses. Such studies could lead to more effective breeding and conservation strategies and could also benefit horse performance and health management.
Cite This Article
APA
Hansen M, Knorr C, Hall AJ, Broad TE, Brenig B.
(2007).
Sequence analysis of the equine SLC26A2 gene locus on chromosome 14q15–>q21.
Cytogenet Genome Res, 118(1), 55-62.
https://doi.org/10.1159/000106441 Publication
Researcher Affiliations
- Institute of Veterinary Medicine, Georg-August-University of Gottingen, Gottingen, Germany.
MeSH Terms
- Amino Acid Sequence
- Animals
- Base Sequence
- Chromosome Mapping
- Chromosomes, Artificial, Bacterial
- DNA Primers
- Female
- Horses
- Humans
- Male
- Membrane Transport Proteins / chemistry
- Membrane Transport Proteins / genetics
- Molecular Sequence Data
- Polymorphism, Single Nucleotide
- Sequence Homology, Amino Acid
Citations
This article has been cited 3 times.- Srikanth K, Kim NY, Park W, Kim JM, Kim KD, Lee KT, Son JH, Chai HH, Choi JW, Jang GW, Kim H, Ryu YC, Nam JW, Park JE, Kim JM, Lim D. Comprehensive genome and transcriptome analyses reveal genetic relationship, selection signature, and transcriptome landscape of small-sized Korean native Jeju horse. Sci Rep 2019 Nov 13;9(1):16672.
- Jun J, Cho YS, Hu H, Kim HM, Jho S, Gadhvi P, Park KM, Lim J, Paek WK, Han K, Manica A, Edwards JS, Bhak J. Whole genome sequence and analysis of the Marwari horse breed and its genetic origin. BMC Genomics 2014;15 Suppl 9(Suppl 9):S4.
- Chowdhary BP, Raudsepp T. The horse genome derby: racing from map to whole genome sequence. Chromosome Res 2008;16(1):109-27.
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