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Mutational analysis of BFSP1 , CRYBB1 , GALK1 , and GJA8 in captive‐bred vervet monkeys ( Chlorocebus aethiops )
Author(s) -
Ngqaneka Thobile,
Khoza Sanele,
Magwebu Zandisiwe E.,
Chauke Chesa G.
Publication year - 2020
Publication title -
journal of medical primatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.31
H-Index - 42
eISSN - 1600-0684
pISSN - 0047-2565
DOI - 10.1111/jmp.12455
Subject(s) - vervet monkey , biology , missense mutation , gene , genetics , genotyping , microbiology and biotechnology , virology , mutation , zoology , genotype
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.