title: Genomic structure, polymorphism and expression of the horse alpha-actinin-3 gene.
abstract: Gene characterization is an important feature for genome annotation and more particularly for candidate genes that could be selected in domestic species. Associations between an alpha-actinin-3 gene polymorphism and muscle performance were reported in humans involving a nonsense mutation (R577X) and in mice after inactivation of the gene. Here, we characterized the equine alpha-actinin-3 (ACTN3) gene by sequencing and transcript analysis. The cDNA was determined to be 3.47 kb in length with an open reading frame of 2709 bp expectedly encoding a protein 902 amino acids long. The ACTN3 gene is 13.2 kb long and contains 21 exons. The equine ACTN3 gene has a ubiquitous expression but it is overexpressed in skeletal muscles with fast fibers of type IIb. No alternative transcripts were observed. Sequencing the cDNA revealed 8 SNPs, 6 in the coding and 2 in the 3' non-coding regions with no amino acid change and not affecting potential miRNA targets. The equine in silico promoter sequence reveals a structure with two regions similar to those of other mammalian species.
authors: INRA, UMR1313, Unité de Génétique Animale et Biologie Intégrative, Centre de Recherches de Jouy, 78350 Jouy-en-Josas, France. xavier.mata@jouy.inra.fr
authors: X
authors: X
authors: Mata
authors: A
authors: A
authors: Vaiman
authors: A
authors: A
authors: Ducasse
authors: M
authors: M
authors: Diribarne
authors: L
authors: L
authors: Schibler
authors: G
authors: G
authors: Guérin
mesh_terms: D000185:Actinin / Q000235:genetics*; D000818:Animals; D006736:Horses / Q000235:genetics*; D011110:Polymorphism, Genetic
chemical_list: D000185:Actinin