"NEIBANK: EST Analysis and Bioinformatics for Ocular Genomics"

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。然而，迄今为止，许多眼部组织在促成dbEST的cDNA文库中表现不佳。为了解决这种情况，已经开始了一个项目，即NEIBANK，以改善人眼的无害环境技术的覆盖范围。构建了人类晶状体、睫状体/虹膜、RPE/脉络膜、视网膜和角膜的cDNA文库，并通过深度测序进行了检测。通常对每个非规范化库中的2000个克隆进行测序、分析和聚类。还创建了大鼠虹膜/睫状体/TM和视网膜的文库。已经鉴定出几个新的基因，包括Oculoglycan（一种眼睛特异性LRR蛋白，其基因定位与ARMD接近）、lengsin (LGS)（一种丰富的与谷氨酰胺合成酶相关的晶状体特异性转录物）、Oculospanin（一种新的四合蛋白，定位于chr17，接近疾病位点RP17）、Iris-derived growth factor （VEGF的亲戚）和许多其他基因。镜头和虹膜库已经标准化更深的序列。RPE文库已经产生了8000多个序列。到目前为止，大约20,000个眼部cDNA克隆，代表了大约10,000个单独的集群（潜在基因），已经在一个包含关键字和染色体定位数据的基于网络的数据库中进行了测序和组织。这种资源现在被用来制造用于眼部研究的微阵列。

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). However many eye tissues have been poorly represented in the cDNA libraries that have so far contributed to dbEST. To address this situation a project, NEIBANK, has been initiated to improve the EST coverage of the human eye. cDNA libraries for human lens, ciliary body/iris,RPE/choroid, retina and cornea have been constructed and examined by in-depth sequencing. Typically 2000 clones from each un-normalized library have been sequenced, analyzed and clustered. Libraries for rat iris/ciliary body/TM and retina have also been created. Several novel genes have been identified, including Oculoglycan (an eye-specific LRR protein whose gene maps close to ARMD), lengsin (LGS)(an abundant lens specific transcript related to glutamine synthestase), Oculospanin (a novel tetraspan that maps to chr17, close to the disease locus RP17), Iris-derived growth factor (a VEGF relative) and many others. Lens and iris libraries have been normalized for deeper sequence. The RPE library has produced over 8000 sequences. So far approximately 20,000 ocular cDNA clones, representing about 10,000 individual clusters (potential genes), have been sequenced and organized in a web-based database that contains keyword and chromosomal location data. This resource is now being used to create micro-arrays for ocular studies.