Mutational analysis of BFSP1, CRYBB1, GALK1, and GJA8 in captive-bred vervet monkeys (Chlorocebus aethiops).

Congenital cataract has been reported in a colony of captive-bred vervet monkeys (Chlorocebus aethiops). 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 (BFSP1), beta-crystallin B1 (CRYBB1), galactokinase1 (GALK1), and gap junction alpha-8 protein (GJA8) were screened, sequenced, and analyzed for mutations in 24 vervet monkeys (control and cataract). Five missense sequence variants were identified (V147E, A167P, L212F, N55K, and T247A), three of which were found to be potentially disease-causing. Furthermore, downregulation was observed in BFSP1, CRYBB1, and GALK1 genes. This study reports two cases of incomplete penetrance and/or uniparental disomy (L212F and T247A) in BSFP1. Mutations in BSFP1 together with three mutations in GALK1 and GJA8 were predicted to be disease-causing. © 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Citation

Thobile Ngqaneka, Sanele Khoza, Zandisiwe E Magwebu, Chesa G Chauke. Mutational analysis of BFSP1, CRYBB1, GALK1, and GJA8 in captive-bred vervet monkeys (Chlorocebus aethiops). Journal of medical primatology. 2020 Apr;49(2):79-85

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PMID: 31975409

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