NEIBank: Est Analysis and Bioinformatics for Ocular Geno

眼睛是一个复杂的系统，由各种发育起源的高度分化的组织组成。许多对眼睛功能至关重要的基因是组织特异性的，其中许多已知的基因与遗传性眼病有关。大多数人类表达基因只能通过表达序列标签（est）来了解。一个名为NEIBank的项目开始了，以提高EST的覆盖率，并为眼睛开发一个分子百科全书（http://neibank.nei.nih.gov）。许多人的眼睛（和耳朵）组织和重要的动物模型的组织现在已经被分析。最近增加了人类和小鼠泪腺、圆锥角膜、小鼠视网膜和RPE以及狗、兔和斑马鱼组织的几个文库。这项工作所产生的人类DNA资源已被用于创建含有13,000个非冗余人眼表达序列和6500个小鼠眼睛表达序列的cDNA微阵列。该数据库也是基因发现的重要来源。有几个基因正在进一步研究中，包括晶状体终末分化的标记物冷蛋白；PDGF-D，晶状体发育的重要有丝分裂原，分泌到房水中，也在视网膜外丛状层表达；视网膜结合蛋白：视网膜的候选类胡萝卜素结合蛋白；一种新的角膜特异性基因可能与干细胞群有关。利用“重组”技术正在开发这些基因功能的小鼠模型。

The eye is a complex system of highly differentiated tissues of various developmental origins. Many genes essential for eye function are tissue-specific and many of those known are associated with genetic eye diseases. The majority of human expressed genes are known only through expressed sequence tags (ESTs). A project called NEIBank was begun to improve the EST coverage and to develop a molecular encyclopedia for the eye (http://neibank.nei.nih.gov). Many human eye (and also ear)tissues and those of important animal models have now been analyzed. Recent additions are human and mouse lacrimal gland, keratoconus cornea, mouse retina and RPE and several libraries from dog, rabbit and zebrafish tissues. The human DNA resource generated by this work has been used to create cDNA microarrays with 13,000 non-redundant human eye expressed sequences and 6500 sequences from mouse eye. This database is also an important source of gene discovery. Several genes are under further investigation, including lengsin, a marker for terminal differentiation in the lens; PDGF-D, a important mitogen for lens development that is secreted into the aqueous humor and is also expressed in the outer plexiform layer of the retina; retbindin a candidate carotenoid binding protein of the retina; and a novel cornea-specific gene that may be associated with stem cell populations. Mouse models for the function of these genes are being developed using "recombineering" technology. A recent addition to the informatics tools for eye research is EyeBrowse, a dedicated genome browser for eye-expressed genes, produced in collaboration with CIT. http://eyebrowse.cit.nih.gov/genome/