Autosomal recessive congenital cataract in captive-bred vervet monkeys (Chlorocebus aethiops)

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dc.contributor.authorMagwebu, Zandisiwe E.
dc.contributor.authorAbdul-Rasool, Sahar
dc.contributor.authorSeier, Jurgen V.
dc.contributor.authorChauke, Chesa G.
dc.date.accessioned2018-02-05T13:29:06Z
dc.date.available2018-02-05T13:29:06Z
dc.date.issued2018
dc.description.abstractBACKGROUND: 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 (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. RESULTS: Fifteen 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. CONCLUSION: Although 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.en_US
dc.identifier.citationMagwebu, Z.E. et al. (2018). Autosomal recessive congenital cataract in captive-bred vervet monkeys (Chlorocebus aethiops). Journal of Medical Primatology, 00: 1–8.en_US
dc.identifier.issn0047-2565
dc.identifier.urihttp://dx.doi.org/10.1111/jmp.12332
dc.identifier.urihttp://hdl.handle.net/10566/3471
dc.language.isoenen_US
dc.privacy.showsubmitterFALSE
dc.publisherWileyen_US
dc.rightsThis is the author-version of the article published online at: http://dx.doi.org/10.1111/jmp.12332
dc.status.ispeerreviewedTRUE
dc.subjectCrystallin alpha Aen_US
dc.subjectGlucosaminyl (N-acetyl) transferase 2en_US
dc.subjectHeat shock transcription factor 4en_US
dc.subjectLens intrinsic membrane protein-2en_US
dc.subjectNon-human primatesen_US
dc.subjectSequence variantsen_US
dc.titleAutosomal recessive congenital cataract in captive-bred vervet monkeys (Chlorocebus aethiops)en_US
dc.typeArticleen_US

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