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一种新的γD-晶状体蛋白突变导致蛋白质性质发生轻微变化，但会引发先天性珊瑚状白内障。

A novel gammaD-crystallin mutation causes mild changes in protein properties but leads to congenital coralliform cataract.

作者信息

Zhang Li-Yun, Gong Bo, Tong Jian-Ping, Fan Dorothy Shu-Ping, Chiang Sylvia Wai-Yee, Lou Dinghua, Lam Dennis Shun-Chiu, Yam Gary Hin-Fai, Pang Chi-Pui

机构信息

Department of Ophthalmology and Visual Sciences, The Chinese University of Hong Kong, Hong Kong, China.

出版信息

Mol Vis. 2009 Aug 6;15:1521-9.

PMID:19668596
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2722711/
Abstract

PURPOSE

To identify the genetic lesions for congenital coralliform cataract.

METHODS

Two Chinese families with autosomal dominant coralliform cataract, 12 affected and 14 unaffected individuals, were recruited. Fifteen known genes associated with autosomal dominant congenital cataract were screened by two-point linkage analysis with gene based single nucleotide polymorphisms and microsatellite markers. Sequence variations were identified. Recombinant FLAG-tagged wild type or mutant gammaD-crystallin was expressed in human lens epithelial cells and COS-7 cells. Protein solubility and intracellular distribution were analyzed by western blotting and immunofluorescence, respectively.

RESULTS

A novel heterozygous change, c.43C>A (R15S) of gammaD-crystallin (CRYGD) co-segregated with coralliform cataract in one family and a known substitution, c.70C>A (P24T), in the other family. Unaffected family members and 103 unrelated control subjects did not carry these mutations. Similar to the wild type protein, R15S gammaD-crystallin was detergent soluble and was located in the cytoplasm. ProtScale and ScanProsite analyses revealed raised local hydrophobicity and the creation of a hypothetical casein kinase II phosphorylation site.

CONCLUSIONS

A novel R15S mutation caused congenital coralliform cataract in a Chinese family. R15S possessed similar properties to the wild type gammaD-crystallin, but its predicted increase of hydrophobicity and putative phosphorylation site could lead to protein aggregation, subsequently causing opacification in lens.

摘要

目的

鉴定先天性珊瑚状白内障的基因损伤。

方法

招募了两个患常染色体显性遗传珊瑚状白内障的中国家庭，其中12人患病，14人未患病。通过基于基因的单核苷酸多态性和微卫星标记进行两点连锁分析，筛选了15个与常染色体显性遗传先天性白内障相关的已知基因。鉴定序列变异。将重组的带有FLAG标签的野生型或突变型γD-晶状体蛋白在人晶状体上皮细胞和COS-7细胞中表达。分别通过蛋白质印迹法和免疫荧光法分析蛋白质溶解度和细胞内分布。

结果

一个家庭中，γD-晶状体蛋白（CRYGD）的一种新的杂合变化c.43C>A（R15S）与珊瑚状白内障共分离，另一个家庭中则是一个已知的替换c.70C>A（P24T）。未患病的家庭成员和103名无关对照受试者未携带这些突变。与野生型蛋白相似，R15SγD-晶状体蛋白可溶于去污剂，且位于细胞质中。ProtScale和ScanProsite分析显示局部疏水性增加，并产生了一个假定的酪蛋白激酶II磷酸化位点。

结论

一个新的R15S突变导致一个中国家庭患先天性珊瑚状白内障。R15S与野生型γD-晶状体蛋白具有相似的特性，但其预测的疏水性增加和假定的磷酸化位点可能导致蛋白质聚集，进而引起晶状体混浊。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4733/2722711/6feec8972297/mv-v15-1521-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4733/2722711/6feec8972297/mv-v15-1521-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4733/2722711/6feec8972297/mv-v15-1521-f2.jpg

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Mol Vis. 2008 Mar 4;14:378-86.
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A novel deletion variant of gammaD-crystallin responsible for congenital nuclear cataract.一种导致先天性核性白内障的新型γD-晶状体蛋白缺失变异体。
在中国一个家族中分别鉴定出与先天性白内障和虹膜缺损相关的两个致病基因突变。
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