{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,27]],"date-time":"2025-11-27T10:45:22Z","timestamp":1764240322435,"version":"3.37.3"},"reference-count":28,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2020,1,23]],"date-time":"2020-01-23T00:00:00Z","timestamp":1579737600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Primate Unit and Delft Animal Centre (PUDAC) of the South African Medical Research Council"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Medical Primatology"],"published-print":{"date-parts":[[2020,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Congenital cataract has been reported in a colony of captive\u2010bred vervet monkeys (<jats:italic>Chlorocebus aethiops<\/jats:italic>).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Molecular tools such as genotyping and gene expression were used to identify mutations associated with congenital cataract in this vervet colony. Beaded filament structural protein 1 (<jats:italic>BFSP1<\/jats:italic>), beta\u2010crystallin B1 (<jats:italic>CRYBB1<\/jats:italic>), galactokinase1 (<jats:italic>GALK1<\/jats:italic>), and gap junction alpha\u20108 protein (<jats:italic>GJA8<\/jats:italic>) were screened, sequenced, and analyzed for mutations in 24 vervet monkeys (control and cataract).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Five missense sequence variants were identified (V147E, A167P, L212F, N55K, and T247A), three of which were found to be potentially disease\u2010causing. Furthermore, downregulation was observed in <jats:italic>BFSP1, CRYBB1,<\/jats:italic> and <jats:italic>GALK1<\/jats:italic> genes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study reports two cases of incomplete penetrance and\/or uniparental disomy (L212F and T247A) in <jats:italic>BSFP1<\/jats:italic>. Mutations in <jats:italic>BSFP1<\/jats:italic> together with three mutations in <jats:italic>GALK1<\/jats:italic> and <jats:italic>GJA8<\/jats:italic> were predicted to be disease\u2010causing.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jmp.12455","type":"journal-article","created":{"date-parts":[[2020,1,24]],"date-time":"2020-01-24T04:55:29Z","timestamp":1579841729000},"page":"79-85","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Mutational analysis of <i>BFSP1<\/i>, <i>CRYBB1<\/i>, <i>GALK1<\/i>, and <i>GJA8<\/i> in captive\u2010bred vervet monkeys (<i>Chlorocebus aethiops<\/i>)"],"prefix":"10.1111","volume":"49","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4235-9970","authenticated-orcid":false,"given":"Thobile","family":"Ngqaneka","sequence":"first","affiliation":[{"name":"Primate Unit and Delft Animal Centre (PUDAC) South African Medical Research Council Tygerberg South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2255-7323","authenticated-orcid":false,"given":"Sanele","family":"Khoza","sequence":"additional","affiliation":[{"name":"Primate Unit and Delft Animal Centre (PUDAC) South African Medical Research Council Tygerberg South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4861-6018","authenticated-orcid":false,"given":"Zandisiwe E.","family":"Magwebu","sequence":"additional","affiliation":[{"name":"Primate Unit and Delft Animal Centre (PUDAC) South African Medical Research Council Tygerberg South Africa"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3834-7467","authenticated-orcid":false,"given":"Chesa G.","family":"Chauke","sequence":"additional","affiliation":[{"name":"Primate Unit and Delft Animal Centre (PUDAC) South African Medical Research Council Tygerberg South 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