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Autosomal recessive congenital cataract in captive‐bred vervet monkeys ( Chlorocebus aethiops )
Author(s) -
Magwebu Zandisiwe E.,
AbdulRasool Sahar,
Seier Jürgen V.,
Chauke Chesa G.
Publication year - 2018
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.12332
Subject(s) - missense mutation , biology , gene , genetics , candidate gene , mutation
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 ( GCNT 2 ), heat shock transcription factor 4 ( HSF 4 ), crystallin alpha A ( CRYAA ) and lens intrinsic membrane protein‐2 ( LIM 2 ) 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 ( GCNT 2 , HSF 4 and CRYAA ). Of these variations, only three were missense mutations (M258V, V16I and S24N) and identified in the GCNT 2 transcripts A, B and C, respectively, which resulted in a downregulated gene expression. Conclusion Although the three missense mutations in GCNT 2 have a benign effect, a possibility exists that the candidate genes ( GCNT 2 , HSF 4 and CRYAA ) might harbour mutations that are responsible for total congenital cataract.