"NEIBANK: EST Analysis and Bioinformatics for Ocular Genomics"

眼睛是一个由不同发育来源的高度分化的组织组成的复杂系统。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。大多数人类表达的基因都是通过表达序列标签(EST)才知道的。然而，到目前为止，许多眼组织在参与DBEST的cDNA文库中的代表性很差。为了解决这种情况，已经启动了一个名为NEIBANK的项目，以提高EST对人眼的覆盖率。构建了人晶状体、睫状体/虹膜、RPE/脉络膜、视网膜和角膜的cDNA文库，并进行了深度测序。通常，对每个非标准化文库中的2000个克隆进行了测序、分析和分类。还建立了大鼠虹膜/睫状体/TM和视网膜的文库。一些新的基因已经被发现，包括Oculoglycan(一种眼睛特异的LRR蛋白，其基因图谱接近ARMD)，Lengsin(Lgs)(与谷氨酰胺合成酶相关的丰富的晶状体特异性转录本)，Oculospanin(一种新的定位于chr17的新的Tetraspan，靠近疾病的RP17)，虹膜衍生的生长因子(一种VEGF的近亲)以及许多其他基因。镜头和虹膜资料库已被标准化，以获得更深层次的序列。RPE文库已经产生了8000多个序列。到目前为止，已经对大约20,000个代表大约10,000个个体簇(潜在基因)的眼睛cDNA克隆进行了测序，并将其组织到一个包含关键字和染色体位置数据的网络数据库中。这种资源现在正被用来制造用于眼科研究的微阵列。

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.