圈养黑长尾猴（绿猴）中的常染色体隐性先天性白内障。
Autosomal recessive congenital cataract in captive-bred vervet monkeys (Chlorocebus aethiops).
作者信息
Magwebu Zandisiwe E, Abdul-Rasool Sahar, Seier Jürgen V, Chauke Chesa G
机构信息
Primate Unit and Delft Animal Centre (PUDAC), South African Medical Research Council (SAMRC), Tygerberg, Cape Town, South Africa.
Medical Bioscience Department, University of the Western Cape, Belville, South Africa.
出版信息
J Med Primatol. 2018 Apr;47(2):93-100. doi: 10.1111/jmp.12332. Epub 2018 Jan 29.
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.
背景
本研究的目的是评估圈养繁殖的绿猴群体中先天性白内障的遗传易感性。
方法
对36只猴子的四个先天性白内障基因：氨基葡萄糖基（N-乙酰）转移酶2（GCNT2）、热休克转录因子4（HSF4）、晶状体αA蛋白（CRYAA）和晶状体固有膜蛋白2（LIM2）进行筛选、测序并分析可能的基因变异。还对这些基因的表达进行了评估。
结果
在三个基因（GCNT2、HSF4和CRYAA）的编码区鉴定出15个序列变异。在这些变异中，只有三个是错义突变（M258V、V16I和S24N），分别在GCNT2转录本A、B和C中鉴定到，这导致基因表达下调。
结论
虽然GCNT2中的三个错义突变具有良性作用，但候选基因（GCNT2、HSF4和CRYAA）可能存在导致完全性先天性白内障的突变。
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