{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T13:37:10Z","timestamp":1770903430822,"version":"3.50.1"},"reference-count":53,"publisher":"American Veterinary Medical Association (AVMA)","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["ajvr"],"published-print":{"date-parts":[[2018,5]]},"abstract":"<jats:title>Abstract<\/jats:title>\n<jats:p><jats:bold>OBJECTIVE<\/jats:bold> To identify the genetic cause for congenital photosensitivity and hyperbilirubinemia (CPH) in Southdown sheep.<\/jats:p>\n<jats:p><jats:bold>ANIMALS<\/jats:bold> 73 Southdown sheep from a CPH research flock and 48 sheep of various breeds from commercial flocks without CPH.<\/jats:p>\n<jats:p><jats:bold>PROCEDURES<\/jats:bold> Whole-genome sequencing was performed for a phenotypically normal Southdown sheep heterozygous for CPH. Heterozygous variants within <jats:italic>Slco1b3<\/jats:italic> coding exons were identified, and exons that contained candidate mutations were amplified by PCR assay methods for Sanger sequencing. Blood samples from the other 72 Southdown sheep of the CPH research flock were used to determine plasma direct and indirect bilirubin concentrations. Southdown sheep with a plasma total bilirubin concentration &lt; 0.3 mg\/dL were classified as controls, and those with a total bilirubin concentration \u2265 0.3 mg\/dL and signs of photosensitivity were classified as mutants. Sanger sequencing was used to determine the <jats:italic>Slco1b3<\/jats:italic> genotype for all sheep. Genotypes were compared between mutants and controls of the CPH research flock and among all sheep. Protein homology was measured across 8 species to detect evolutionary conservation of <jats:italic>Slco1b<\/jats:italic>.<\/jats:p>\n<jats:p><jats:bold>RESULTS<\/jats:bold> A nonsynonymous mutation at ovine Chr3:193,691,195, which generated a glycine-to-arginine amino acid change within the predicted Slco1b3 protein, was significantly associated with hyperbilirubinemia and predicted to be deleterious. That amino acid was conserved across 7 other mammalian species.<\/jats:p>\n<jats:p><jats:bold>CONCLUSIONS AND CLINICAL RELEVANCE<\/jats:bold> Results suggested a nonsynonymous mutation in <jats:italic>Slco1b3<\/jats:italic> causes CPH in Southdown sheep. This disease appears to be similar to Rotor syndrome in humans. Sheep with CPH might be useful animals for Rotor syndrome research.<\/jats:p>","DOI":"10.2460\/ajvr.79.5.538","type":"journal-article","created":{"date-parts":[[2018,4,24]],"date-time":"2018-04-24T16:08:48Z","timestamp":1524586128000},"page":"538-545","source":"Crossref","is-referenced-by-count":2,"title":["Mutation responsible for congenital photosensitivity and hyperbilirubinemia in Southdown sheep"],"prefix":"10.2460","volume":"79","author":[{"given":"Christian J.","family":"Posbergh","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara E.","family":"Kalla","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathan B.","family":"Sutter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bud C.","family":"Tennant","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heather J.","family":"Huson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1272","reference":[{"key":"ref1","series-title":"N Z J Sci Technol A","first-page":"185","article-title":"Photosensitivity diseases in New Zealand. 1. 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