人类和小鼠GLC1A青光眼基因的特征分析与比较
Characterization and comparison of the human and mouse GLC1A glaucoma genes.
作者信息
Fingert J H, Ying L, Swiderski R E, Nystuen A M, Arbour N C, Alward W L, Sheffield V C, Stone E M
机构信息
Department of Ophthalmology, University of Iowa, Iowa City, Iowa 52242, USA.
出版信息
Genome Res. 1998 Apr;8(4):377-84. doi: 10.1101/gr.8.4.377.
Abstract
The GLC1A gene (which encodes the protein myocilin) has been associated with the development of primary open angle glaucoma. Bacterial artificial chromosomes containing the human GLC1A gene and its mouse ortholog were subcloned and sequenced to reveal the genomic structure of the genes. Comparison of the coding sequences of the human and mouse GLC1A genes revealed a high degree of amino acid homology (82%) and the presence of several conserved motifs in the predicted GLC1A proteins. The expression of GLC1A was examined by Northern blot analysis of RNA from adult human tissues. GLC1A expression was observed in 17 of 23 tissues tested, suggesting a wider range of expression than was recognized previously. The comparison of the human and mouse GLC1A genes suggests that the mouse may be a useful model organism in studying the molecular pathophysiology of glaucoma.
摘要
GLC1A基因（编码肌纤蛋白）与原发性开角型青光眼的发病有关。含有人类GLC1A基因及其小鼠同源基因的细菌人工染色体被亚克隆并测序，以揭示这些基因的基因组结构。人类和小鼠GLC1A基因编码序列的比较显示，预测的GLC1A蛋白具有高度的氨基酸同源性（82%），并且存在几个保守基序。通过对成人组织RNA进行Northern印迹分析来检测GLC1A的表达。在所检测的23种组织中的17种中观察到了GLC1A的表达，这表明其表达范围比之前认为的更广。人类和小鼠GLC1A基因的比较表明，小鼠可能是研究青光眼分子病理生理学的有用模式生物。
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