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Cytogenetic and genome research2007; 116(4); 256-262; doi: 10.1159/000100409

Molecular characterization of the equine ATP2A2 gene.

Abstract: The mammalian ATP2A2 gene encodes a P-type cation pump located in the sarcoplasmic or endoplasmic reticula of muscle cells. We isolated one bacterial artificial chromosome (BAC) clone containing the equine ATP2A2 gene and determined the complete coding sequence of this gene. Cloning and characterization of the equine ATP2A2 gene revealed that the equine ATP2A2 gene consists of 20 exons. In total, 32 horses out of 16 breeds were analyzed for single nucleotide polymorphisms (SNPs). A mutation scan for SNPs included ten exons and their flanking introns. We detected in total 17 SNPs, 14 of which were located in introns, one in exon 9 and two in exon 20. In this report we provide the genomic organization and the equine ATP2A2 coding sequence and an association analysis for chronic pastern dermatitis using a sample of South German draft horses.
Publication Date: 2007-04-14 PubMed ID: 17431323DOI: 10.1159/000100409Google Scholar: Lookup
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  • Journal Article

Summary

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The research paper discusses the study of the ATP2A2 gene in horses, its coding sequence, organization, and potential association with pastern dermatitis in South German draft horses.

Objective of the Study

  • The main objective of this study was to isolate, clone, and understand the characteristics of the ATP2A2 gene in horses. The ATP2A2 gene codes for the P-type cation pump, which is found in the sarcoplasmic or endoplasmic reticula of muscle cells.
  • This study also aimed to identify single nucleotide polymorphisms (SNPs) in the ATP2A2 gene across different horse breeds, and investigate the potential association of the gene variants with chronic pastern dermatitis in South German draft horses.

Methodology

  • Using a bacterial artificial chromosome (BAC) clone, the research team isolated the equine ATP2A2 gene and determined its complete coding sequence.
  • From the cloned ATP2A2 gene, it was revealed that it consists of 20 exons.
  • A mutation scan for SNPs was performed on 32 horses across 16 breeds. The scan involved ten exons and the regions flanking them.
  • The study involved a genomic analysis to understand the organization and coding sequence of the ATP2A2 gene and an association analysis to study its relation to chronic pastern dermatitis.

Findings

  • The researchers detected 17 SNPs within the ATP2A2 gene, 14 of which were located in introns (the region within a gene that doesn’t code for a protein), one in exon 9 and two in exon 20.
  • The ATP2A2 gene in horses was found to contain 20 exons.
  • The complete coding sequence and genomic organization of the equine ATP2A2 gene were revealed.

Implications

  • The findings of this study provide valuable insights into the genetic makeup of the equine ATP2A2 gene. Understanding genetic variations like SNPs can help in understanding the associated genetic implications, potential diseases, and overall horse health.
  • The association analysis done as part of this study between the ATP2A2 gene variants and chronic pastern dermatitis has potential implications for future genetic and health studies of horses, particularly South German draft horses.

Cite This Article

APA
Mömke S, Distl O. (2007). Molecular characterization of the equine ATP2A2 gene. Cytogenet Genome Res, 116(4), 256-262. https://doi.org/10.1159/000100409

Publication

ISSN: 1424-859X
NlmUniqueID: 101142708
Country: Switzerland
Language: English
Volume: 116
Issue: 4
Pages: 256-262

Researcher Affiliations

Mömke, S
  • Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Hannover, Germany.
Distl, O

    MeSH Terms

    • Amino Acid Sequence
    • Animals
    • Base Sequence
    • DNA, Complementary / genetics
    • DNA, Intergenic / genetics
    • Exons / genetics
    • Horses / genetics
    • Humans
    • Introns / genetics
    • Molecular Sequence Data
    • Polymorphism, Single Nucleotide / genetics
    • Sarcoplasmic Reticulum Calcium-Transporting ATPases / chemistry
    • Sarcoplasmic Reticulum Calcium-Transporting ATPases / genetics
    • Sequence Alignment
    • Sequence Analysis, DNA

    Citations

    This article has been cited 1 times.
    1. Mittmann EH, Mömke S, Distl O. Whole-genome scan identifies quantitative trait loci for chronic pastern dermatitis in German draft horses. Mamm Genome 2010 Feb;21(1-2):95-103.
      doi: 10.1007/s00335-009-9244-zpubmed: 20039044google scholar: lookup