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- Title
Autosomal recessive congenital cataract in captive‐bred vervet monkeys (<italic>Chlorocebus aethiops</italic>).
- Authors
Magwebu, Zandisiwe E.; Abdul‐Rasool, Sahar; Seier, Jürgen V.; Chauke, Chesa G.
- Abstract
Abstract: Background: The aim of the study was to evaluate the genetic predisposition of congenital cataract in a colony of captive‐bred vervet monkeys. Methods: Four congenital cataract genes: glucosaminyl (N‐acetyl) transferase 2 (<italic>GCNT2</italic>), heat shock transcription factor 4 (<italic>HSF4</italic>), crystallin alpha A (<italic>CRYAA</italic>) and lens intrinsic membrane protein‐2 (<italic>LIM2</italic>) were screened, sequenced and analysed for possible genetic variants in 36 monkeys. Gene expression was also evaluated in these genes. Results: Fifteen sequence variants were identified in the coding regions of three genes (<italic>GCNT2</italic>,<italic> HSF4</italic> and <italic>CRYAA</italic>). Of these variations, only three were missense mutations (M258V, V16I and S24N) and identified in the <italic>GCNT2</italic> transcripts A, B and C, respectively, which resulted in a downregulated gene expression. Conclusion: Although the three missense mutations in <italic>GCNT2</italic> have a benign effect, a possibility exists that the candidate genes (<italic>GCNT2</italic>,<italic> HSF4</italic> and <italic>CRYAA</italic>) might harbour mutations that are responsible for total congenital cataract.
- Subjects
CATARACT; MONKEY diseases; HEAT shock factors; GENE expression; PRIMATOLOGY
- Publication
Journal of Medical Primatology, 2018, Vol 47, Issue 2, p93
- ISSN
0047-2565
- Publication type
Article
- DOI
10.1111/jmp.12332