Ngqaneka Thobile, Khoza Sanele, Magwebu Zandisiwe E, Chauke Chesa G
Primate Unit and Delft Animal Centre (PUDAC), South African Medical Research Council, Tygerberg, South Africa.
J Med Primatol. 2020 Apr;49(2):79-85. doi: 10.1111/jmp.12455. Epub 2020 Jan 23.
Congenital cataract has been reported in a colony of captive-bred vervet monkeys (Chlorocebus aethiops).
Molecular tools such as genotyping and gene expression were used to identify mutations associated with congenital cataract in this vervet colony. Beaded filament structural protein 1 (BFSP1), beta-crystallin B1 (CRYBB1), galactokinase1 (GALK1), and gap junction alpha-8 protein (GJA8) were screened, sequenced, and analyzed for mutations in 24 vervet monkeys (control and cataract).
Five missense sequence variants were identified (V147E, A167P, L212F, N55K, and T247A), three of which were found to be potentially disease-causing. Furthermore, downregulation was observed in BFSP1, CRYBB1, and GALK1 genes.
This study reports two cases of incomplete penetrance and/or uniparental disomy (L212F and T247A) in BSFP1. Mutations in BSFP1 together with three mutations in GALK1 and GJA8 were predicted to be disease-causing.
在一群人工饲养的黑长尾猴（绿猴）中曾报道过先天性白内障。
运用基因分型和基因表达等分子工具来鉴定该黑长尾猴群体中与先天性白内障相关的突变。对24只黑长尾猴（对照和白内障个体）的串珠丝状结构蛋白1（BFSP1）、β-晶状体蛋白B1（CRYBB1）、半乳糖激酶1（GALK1）和间隙连接α-8蛋白（GJA8）进行筛选、测序并分析突变情况。
鉴定出5个错义序列变异（V147E、A167P、L212F、N55K和T247A），其中3个被发现可能致病。此外，还观察到BFSP1、CRYBB1和GALK1基因表达下调。
本研究报道了BSFP1中两例不完全外显和/或单亲二体（L212F和T247A）的情况。预计BSFP1中的突变以及GALK1和GJA8中的3个突变具有致病性。
