SNP diversity of the ELR1 gene in Criollo Argentino horses.

CORBI BOTTO CM; SADABA SA; ZAPPA ME; PERAL GARCIA P; DÍAZ S

Xi'an

Congreso; 34th Conference of the International Society for Animal Genetics.; 2014

International Society for Animal Genetics (ISAG).

Equine lentivirus receptor 1 (ELR1) has been identified as the receptor responsible for the entry of equine infectious anemia virus (EIAV) in horse macrophages. Several single nucleotide polymorphisms (SNPs) have been reported in members of this tumor necrosis factor receptor (TNFR) protein family. A missense variant G/A in the coding sequence on the fifth exon of ELR1 causes a non synonymous substitution E/K in a cysteine-rich domain of the mature protein. The aim of this study was to assess the extent of ELR1 polymorphism by specifically detecting the sequence variant SNP c.617G>A by Pyrosequencing®. We have analyzed 100 horses from diverse genetic background, such as Criollo Argentino (CR), Criollo Chaqueño (CH), Arab (AR) and mixbreed (MB). Our preliminary results showed that expected heterozygosities were higher in CR and AR (He=0.50) than in CH (0.44). In addition, only Criollo Argentino population was not in Hardy-Weinberg equilibrium for SNP617 (p-val=0.000). SNP617G results the most frequent variant in Criollo populations but not in Arabs. However, no significant genic (p-value = 0.07516) nor genotypic (p-value = 0.02032) differentiation were detected amongst the horse populations. Since allelic polymorphism of cellular receptors appears to be responsible for interindividual differences in gene expression profiles, they could also have an effect on the specificity of the interactions between ELR1 and the protein of EIAV that mediate infection of target cells.