Genetic variation in exon 3 and 5 of equine lentivirus receptor-1 (TNFRSF14) gene

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

Montevideo

Congreso; XVI Congreso Latinoamericano de Genética IV Congreso de la Sociedad Uruguaya de Genética XLIX Reunión Anual de la Sociedad de Genética de Chile XLV Congreso Argentino de Genética; 2016

Asociación Latinoamericana de Genética Sociedad Uruguaya de Genética Sociedad Argentina de Genética Sociedad de Genética de Chile

Equine lentivirus receptor-1 (ELR-1) has been characterized as the specific functional receptor that mediates equine infectious anemia virus (EIAV) entrance to horse macrophages. Based on its sequence and structure, this receptor was included as member 14 of TNF receptor superfamily, or TNFRSF14. Thus, TNFRSF14 is a candidate gene in the search for understanding the different levels of susceptibility to EIAV, shown among Equidae family members. The aim of this study was to investigate the occurrence of allelic variants in the coding sequence of the equine TNFRSF14 gene by screening for new single-nucleotide polymorphisms (SNPs) in different horse populations. Forty seven horses were randomly selected from a reservoir of EIAV seropositive and seronegative samples, collected from different outbreaks and regions of Argentina. DNA samples were successfully scanned via PCR and direct sequencing of exon 3 and exon 5 of TNFRSF14 gene. Overall, 21 SNPs were identified in the target regions described before, including 10 SNPs in the two intronic sequences, and 11 SNPs in exon 3 and exon 5 of TNFRSF14 gene. The nucleotide sequence of exon 3 showed a new SNP C>T, identified and validated at position 47309385 of chromosome 2. Screening of exon 5 nucleotide sequence showed six new SNPs: 47311282 G>A, 47311284 C>T, 47311323 G>A, 47311295 A>G, 47311301 A>G and 47311358 T>G. In addition, a new SNP at the position 47309360 C>T within intron 2 was only detected in a donkey. Two SNPs on exon 3 and three from exon 5 were not in Hardy Weinberg Equilibrium (pT on exon 3 (p≤0.015). The unexpected variability found on TNFRSF14 coding sequences and the previously reported alternative splicing variants of the receptor, encourages us to pursue investigation towards elucidating the role of the putative protein variants in the interaction with the viral particle.