GEPHE SUMMARY Print
Gephebase Gene
Entry Status
Published
GepheID
GP00001591
Main curator
Prigent
PHENOTYPIC CHANGE
Trait Category
Trait State in Taxon A
horse short-term carrier of Equine arteritis virus - CD3+T lymphocyte resistance to virus
Trait State in Taxon B
horse long-term carrier of Equine arteritis virus - CD3+T lymphocyte susceptible to virus
Ancestral State
Unknown
Taxonomic Status
Taxon A
Latin Name
Common Name
horse
Synonyms
Equus przewalskii f. caballus; Equus przewalskii forma caballus; horse; domestic horse; equine; Equus caballus Linnaeus, 1758
Rank
species
Lineage
Show more ... rata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Perissodactyla; Equidae; Equus; Equus
NCBI Taxonomy ID
is Taxon A an Infraspecies?
Yes
Taxon A Description
Horse short-term carrier of Equine arteritis virus - CD3+T lymphocyte resistance to virus
Taxon B
Latin Name
Common Name
horse
Synonyms
Equus przewalskii f. caballus; Equus przewalskii forma caballus; horse; domestic horse; equine; Equus caballus Linnaeus, 1758
Rank
species
Lineage
Show more ... rata; Gnathostomata; Teleostomi; Euteleostomi; Sarcopterygii; Dipnotetrapodomorpha; Tetrapoda; Amniota; Mammalia; Theria; Eutheria; Boreoeutheria; Laurasiatheria; Perissodactyla; Equidae; Equus; Equus
NCBI Taxonomy ID
is Taxon B an Infraspecies?
Yes
Taxon B Description
Horse long-term carrier of Equine arteritis virus - CD3+T lymphocyte susceptible to virus
GENOTYPIC CHANGE
Presumptive Null
No
Molecular Type
Aberration Type
SNP
SNP Coding Change
Nonsynonymous
Molecular Details of the Mutation
4 candidate nonsynonymous substitutions within exon 1(in 2 susceptible variants): (1)c.715A>T p.Tyr40Phe (2)c.801G>C w.Asp49His (3)c.804T>A/G p.Phe50Ile (4)c.810G>A p.Glu52Lys
Experimental Evidence
Taxon A Taxon B Position
Codon - - -
Amino-acid - - -
Authors
Sarkar S; Bailey E; Go YY; Cook RF; Kalbfleisch T; Eberth J; Chelvarajan RL; Shuck KM; et al. ... show more
Abstract
Equine arteritis virus (EAV) is the causative agent of equine viral arteritis (EVA), a respiratory, systemic, and reproductive disease of horses and other equid species. Following natural infection, 10-70% of the infected stallions can become persistently infected and continue to shed EAV in their semen for periods ranging from several months to life. Recently, we reported that some stallions possess a subpopulation(s) of CD3+ T lymphocytes that are susceptible to in vitro EAV infection and that this phenotypic trait is associated with long-term carrier status following exposure to the virus. In contrast, stallions not possessing the CD3+ T lymphocyte susceptible phenotype are at less risk of becoming long-term virus carriers. A genome wide association study (GWAS) using the Illumina Equine SNP50 chip revealed that the ability of EAV to infect CD3+ T lymphocytes and establish long-term carrier status in stallions correlated with a region within equine chromosome 11. Here we identified the gene and mutations responsible for these phenotypes. Specifically, the work implicated three allelic variants of the equine orthologue of CXCL16 (EqCXCL16) that differ by four non-synonymous nucleotide substitutions (XM_00154756; c.715 A → T, c.801 G → C, c.804 T → A/G, c.810 G → A) within exon 1. This resulted in four amino acid changes with EqCXCL16S (XP_001504806.1) having Phe, His, Ile and Lys as compared to EqCXL16R having Tyr, Asp, Phe, and Glu at 40, 49, 50, and 52, respectively. Two alleles (EqCXCL16Sa, EqCXCL16Sb) encoded identical protein products that correlated strongly with long-term EAV persistence in stallions (P<0.000001) and are required for in vitro CD3+ T lymphocyte susceptibility to EAV infection. The third (EqCXCL16R) was associated with in vitro CD3+ T lymphocyte resistance to EAV infection and a significantly lower probability for establishment of the long-term carrier state (viral persistence) in the male reproductive tract. EqCXCL16Sa and EqCXCL16Sb exert a dominant mode of inheritance. Most importantly, the protein isoform EqCXCL16S but not EqCXCL16R can function as an EAV cellular receptor. Although both molecules have equal chemoattractant potential, EqCXCL16S has significantly higher scavenger receptor and adhesion properties compared to EqCXCL16R.
Additional References
RELATED GEPHE
Related Genes
No matches found.
Related Haplotypes
No matches found.
EXTERNAL LINKS
COMMENTS
Non-null mutation. Susceptible variants are dominant
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