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

J Med Primatol. 2020 Apr;49(2):79-85. doi: 10.1111/jmp.12455. Epub 2020 Jan 23.

Abstract

Background: Congenital cataract has been reported in a colony of captive-bred vervet monkeys (Chlorocebus aethiops).

Methods: 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).

Results: 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.

Conclusion: 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.

Keywords: BFSP1; CRYBB1; GALK1; GJA8; congenital cataract.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Cataract / congenital
  • Cataract / genetics
  • Cataract / veterinary*
  • Chlorocebus aethiops*
  • Eye Proteins / genetics*
  • Eye Proteins / metabolism
  • Female
  • Male
  • Monkey Diseases / congenital
  • Monkey Diseases / genetics*
  • Mutation

Substances

  • Eye Proteins