Polymorphism in introns 5 and 6 of the ACTA1 gene in various Polish horse breeds

The aim of this study was to find polymorphisms in the actin alpha 1 gene (ACTA1) in horses belonging to different breeds and utility types and to compare them. The genomic region of the actin alpha 1 gene was positively selected in purebred horses. By sequencing part of the ACTA1 gene, 2 polymorphic sites located in intron 5 (G > T) and intron 6 (G > C) were found. The polymerase chain reaction-restriction fragment length polymorphism and the amplification created restriction site-polymerase chain reaction methods were applied to screen these polymorphisms. An analysis of the genotype and allele frequencies showed differences depending on the breed and utility type. Other genetic parameters such as heterozygosity and gene diversity revealed similar relationships. For some breeds, deviation from genetic equilibrium was observed. Haplotype analysis showed that 2 of 4 haplotypes were common to all breeds, 1 haplotype was absent in primitive horses, and 1 haplotype was observed only in Purebred Arabian horses and Malopolski horses (a breed that is known to have Arabian ancestors). It seems reasonable to conclude that distribution of the haplotypes of the ACTA1 gene among the populations studied may be the result of long-standing selection for physical performance.

Anahtar Kelimeler:

Horse, utility type, single nucleotide polymorphism, ACTA1 gene

Polymorphism in introns 5 and 6 of the ACTA1 gene in various Polish horse breeds

Keywords:

Horse, utility type, single nucleotide polymorphism, ACTA1 gene,

PDF

___

Binns MM, Boehler DA, Lambert DH. Identification of the myostatin locus (MSTN) as having a major effect on optimum racing distance in the Thoroughbred horse in the USA. Anim Genet 2010; 41: 154–158. 2.
Tozaki T, Miyake T, Kakoi H, Gawahara H, Sugita S, Hasegawa
T, Ishida N, Hirota K, Nakano Y. A genome-wide association
study for racing performances in Thoroughbreds clarifies a
candidate region near the MSTN gene. Anim Genet 2010; 41: 28–35.
Schröder W, Klostermann A, Distl O. Candidate genes for physical performance in the horse. Vet J 2010; 190: 39–48.
Gu J, Orr N, Park SD, Katz LM, Sulimova G, MacHugh DE, Hill EW. A genome scan for positive selection in thoroughbred horses. PLoS One 2009; 4: e5767.
McGivney BA, McGettigan PA, Browne JA, Evans AC, Fonseca RG, Loftus BJ, Lohan A, MacHugh DE, Murphy BA, Katz LM et al. Characterization of the equine skeletal muscle transcriptome identifies novel functional responses to exercise training. BMC Genomics 2010; 11: 398.
Laing NG, Dye DE, Wallgren-Pettersson C, Richard G, Monnier N, Lillis S, Winder TL, Lochmüller H, Graziano C, Mitrani-Rosenbaum S et al. Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat 2009; 30: 1267–1277.
Liu K, Muse SV. PowerMarker: an integrated analysis environment for genetic marker analysis. Bioinformatics 2005; 21: 2128–2129.
Excoffier L, Slatkin M. Maximum-likelihood estimation of molecular haplotype frequencies in a diploid population. Mol Biol Evol 1995; 12: 921–927.
Botstein D, White RL, Skolnick M, Davis RW. Construction of a genetic linkage map in man using restriction fragment length polymorphisms. Am J Hum Genet 1980; 32: 314–331.
Reese MG, Eeckman FH, Kulp D, Haussler D. Improved splice site detection in Genie. J Comp Biol 1997; 4: 311–323.
Graziano C, Bertini E, Minetti C, Porfirio B. Alpha-actin gene mutations and polymorphisms in Italian patients with nemaline myopathy. Int J Mol Med 2004; 13: 805–809.
Hill EW, Gu J, McGivney BA, MacHugh DE. Targets of selection in the Thoroughbred genome contain exercise-relevant gene SNPs associated with elite racecourse performance. Anim Genet 2010; 41: 56–63.
Park HB, Marklund S, Jeon JT, Mickelson JR, Valberg SJ, Sandberg K, Andersson L. Molecular characterization and mutational screening of the PRKAG3 gene in the horse. Cytogenet Genome Res 2003; 102: 211–216.
Dall’Olio S, Fontanesi L, Nanni Costa L, Tassinari M, Minieri L, Falaschini A. Analysis of horse myostatin gene and identification of single nucleotide polymorphisms in breeds of different morphological types. J Biomed Biotechnol 2010; 2010: 542945.
Baron EE, Lopes MS, Mendonça D, da Câmara Machado A. SNP identiŞcation and polymorphism analysis in exon 2 of the horse myostatin gene. Anim Genet 2012; 43: 229–232.