{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T15:07:17Z","timestamp":1790780837079,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,4,21]],"date-time":"2019-04-21T00:00:00Z","timestamp":1555804800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Animal Genetics"],"published-print":{"date-parts":[[2019,6]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Variations in the <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>45A2<\/jats:italic> gene are responsible for the dilution phenotypes cream and pearl in domestic horses. Cream dilution is inherited in an incomplete dominant manner, diluting only red in the heterozygous state but both red and black pigments when two alleles are present. The pearl dilution is recessive and dilutes only the red and black pigment in the homozygous state or when paired with a <jats:italic>cream<\/jats:italic> allele. Horses that inherit one copy of <jats:italic>pearl<\/jats:italic> (<jats:italic>C<\/jats:italic><jats:sup><jats:italic>prl<\/jats:italic><\/jats:sup>) and one copy of the dominant <jats:italic>cream<\/jats:italic> allele (<jats:styled-content style=\"fixed-case\"><jats:italic>C<\/jats:italic><jats:sup><jats:italic>C<\/jats:italic><\/jats:sup><\/jats:styled-content><jats:sup><jats:italic>r<\/jats:italic><\/jats:sup>) display a dilution phenotype similar to that of homozygous <jats:italic>cream<\/jats:italic>, suggesting that pearl is the result of a different variation in the same gene responsible for cream. We sequenced <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>45A2<\/jats:italic> in two \u2018false double dilute\u2019 horses that appeared phenotypically homozygous <jats:italic>cream<\/jats:italic> but tested as possessing only a single <jats:styled-content style=\"fixed-case\"><jats:italic>C<\/jats:italic><jats:sup><jats:italic>C<\/jats:italic><\/jats:sup><\/jats:styled-content><jats:sup><jats:italic>r<\/jats:italic><\/jats:sup> allele. We also sequenced one known <jats:italic>pearl<\/jats:italic> carrier to screen for putative causal variants. The missense variant <jats:styled-content style=\"fixed-case\">ECA<\/jats:styled-content>21:<jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>45A2:<\/jats:italic>c.985G&gt;A; p.Ala329Thr (<jats:italic>C<\/jats:italic><jats:sup><jats:italic>prl<\/jats:italic><\/jats:sup>) was present in one false double dilute and the <jats:italic>pearl<\/jats:italic> carrier and was also genotyped in an additional 126 horses for statistical evaluation. The genotype matched the expected phenotype in all horses (<jats:italic>P<\/jats:italic>\u2010value\u00a0=\u00a06.5\u00a0\u00d7\u00a010<jats:sup>\u221241<\/jats:sup>) and is identical to a <jats:italic>pearl<\/jats:italic> variant found previously. The second false double dilute horse and one non\u2010dilute offspring genotyped as heterozygous for a novel missense variant <jats:styled-content style=\"fixed-case\">ECA<\/jats:styled-content>21:<jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>45A2<\/jats:italic>:c.568G&gt;A (p.Gly190Arg), the proposed <jats:italic>C<\/jats:italic><jats:sup><jats:italic>sun<\/jats:italic><\/jats:sup> variant (for the name of the horse). This variant produces a recessive dilution similar to pearl and indicates that multiple alleles of <jats:italic><jats:styled-content style=\"fixed-case\">SLC<\/jats:styled-content>45A2<\/jats:italic> result in dilution phenotypes in the domestic horse.<\/jats:p>","DOI":"10.1111\/age.12790","type":"journal-article","created":{"date-parts":[[2019,4,22]],"date-time":"2019-04-22T02:58:39Z","timestamp":1555901919000},"page":"271-274","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":24,"title":["A candidate gene approach identifies variants in <i><scp>SLC<\/scp>45A2<\/i> that explain dilute phenotypes, pearl and sunshine, in compound heterozygote horses"],"prefix":"10.1111","volume":"50","author":[{"given":"H. M.","family":"Holl","sequence":"first","affiliation":[{"name":"Etalon Inc Menlo Park CA 94025 USA"},{"name":"Department of Animal Sciences University of Florida Gainesville FL 32607 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. M.","family":"Pflug","sequence":"additional","affiliation":[{"name":"Department of Animal Sciences University of Florida Gainesville FL 32607 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K. M.","family":"Yates","sequence":"additional","affiliation":[{"name":"Department of Animal Sciences University of Florida Gainesville FL 32607 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Hoefs\u2010Martin","sequence":"additional","affiliation":[{"name":"Etalon Inc Menlo Park CA 94025 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Shepard","sequence":"additional","affiliation":[{"name":"Etalon Inc Menlo Park CA 94025 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0537-7483","authenticated-orcid":false,"given":"D. G.","family":"Cook","sequence":"additional","affiliation":[{"name":"Etalon Inc Menlo Park CA 94025 USA"},{"name":"Biology Department Morehead State University Morehead KY 40351 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Lafayette","sequence":"additional","affiliation":[{"name":"Etalon Inc Menlo Park CA 94025 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. A.","family":"Brooks","sequence":"additional","affiliation":[{"name":"Etalon Inc Menlo Park CA 94025 USA"},{"name":"Department of Animal Sciences University of Florida Gainesville FL 32607 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,4,21]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2156-7-46"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btv195"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000195"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2052.2010.02108.x"},{"key":"e_1_2_4_6_1","unstructured":"DelValle&Penedo(2007)Veterinary Genetics Laboratory University of California Davis unpublished results."},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M110229200"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng584"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1534\/genetics.106.063107"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkm256"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1186\/1297-9686-35-1-119"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1086\/324340"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2164-14-363"},{"key":"e_1_2_4_14_1","volume-title":"R: A Language and Environment for Statistical Computing","author":"R Core Team","year":"2013"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/msb.2011.75"},{"key":"e_1_2_4_16_1","volume-title":"Equine Color Genetics","author":"Sponenberg D.P.","year":"2017"},{"key":"e_1_2_4_17_1","first-page":"115","volume-title":"Bioinformatics Methods and Protocols","author":"Staden R.","year":"2000"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky092"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks596"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/srep38548"},{"key":"e_1_2_4_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cub.2013.04.054"},{"key":"e_1_2_4_22_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw1119"}],"container-title":["Animal Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/age.12790","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/age.12790","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/age.12790","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,10]],"date-time":"2023-09-10T11:28:47Z","timestamp":1694345327000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/age.12790"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,4,21]]},"references-count":21,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2019,6]]}},"alternative-id":["10.1111\/age.12790"],"URL":"https:\/\/doi.org\/10.1111\/age.12790","archive":["Portico"],"relation":{},"ISSN":["0268-9146","1365-2052"],"issn-type":[{"value":"0268-9146","type":"print"},{"value":"1365-2052","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,4,21]]},"assertion":[{"value":"2019-01-20","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-04-21","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}