Autosomal recessive congenital cataract in captive-bred vervet monkeys (Chlorocebus aethiops).
J Med Primatol
; 47(2): 93-100, 2018 04.
Article
em En
| MEDLINE
| ID: mdl-29377145
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 (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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Catarata
/
Chlorocebus aethiops
/
Regulação da Expressão Gênica
/
Microftalmia
/
Doenças Genéticas Ligadas ao Cromossomo X
/
Doenças dos Macacos
Tipo de estudo:
Prognostic_studies
Limite:
Animals
Idioma:
En
Revista:
J Med Primatol
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
África do Sul