Autosomal recessive congenital cataract in captive‐bred vervet monkeys (Chlorocebus aethiops)
Copyright policy )Autosomal recessive congenital cataract in captive‐bred vervet monkeys (Chlorocebus aethiops)
AbstractBackgroundThe aim of the study was to evaluate the genetic predisposition of congenital cataract in a colony of captive‐bred vervet monkeys.MethodsFour congenital cataract genes: glucosaminyl (N‐acetyl) transferase 2 (GCNT2), heat shock transcription factor 4 (HSF4), crystallin alpha A (CRYAA) and lens intrinsic membrane protein‐2 (LIM2) were screened, sequenced and analysed for possible genetic variants in 36 monkeys. Gene expression was also evaluated in these genes.ResultsFifteen sequence variants were identified in the coding regions of three genes (GCNT2, HSF4 and CRYAA). Of these variations, only three were missense mutations (M258V, V16I and S24N) and identified in the GCNT2 transcripts A, B and C, respectively, which resulted in a downregulated gene expression.ConclusionAlthough the three missense mutations in GCNT2 have a benign effect, a possibility exists that the candidate genes (GCNT2, HSF4 and CRYAA) might harbour mutations that are responsible for total congenital cataract.
- University of the Western Cape South Africa
- South African Medical Research Council South Africa
Male, Glucosaminyl (N-acetyl) transferase 2, Heat shock transcription factor 4, 572, Monkey Diseases, Mutation, Missense, Lens intrinsic membrane protein-2, Genetic Diseases, X-Linked, Sequence variants, Cataract, Crystallin alpha A, Gene Expression Regulation, Animals, Laboratory, Chlorocebus aethiops, Animals, Microphthalmos, Female, Non-human primates
Male, Glucosaminyl (N-acetyl) transferase 2, Heat shock transcription factor 4, 572, Monkey Diseases, Mutation, Missense, Lens intrinsic membrane protein-2, Genetic Diseases, X-Linked, Sequence variants, Cataract, Crystallin alpha A, Gene Expression Regulation, Animals, Laboratory, Chlorocebus aethiops, Animals, Microphthalmos, Female, Non-human primates
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