KMeyeDB: Keio Mutation Database for Eye Disease Genes Constructed on a Graphical Distributed Database System Mutation View

More than 4,300 human diseases have been identi ed to be inheritable. To date, 1,400 disease loci have been mapped to particular chromosomal regions and almost 800 disease-causing genes and the associated mutations have been identi ed. These mutation data are indispensable not only for basic study of gene functions but also for clinical medicine including DNA diagnosis and gene therapy. We have been collecting mutation data of various diseases. Here, we report KMeyeDB, a mutation database of human eye disease genes [1]. KMeyeDB has been constructed on a database software MutationView [2] which provides graphical data presentation and analysis as a smooth user-interface. At present, KMeyeDB covers mutation data of 16 di erent genes (RHO, RDS, PDE6A, PDE6B, ROM1, CNCG1, RP3, ABCR, RHOK, RB1, RS1, GSN, TGFBI, MYOC, CYP1B1, and CHM) for 18 eye diseases including retinitis pigmentosa, glaucoma, corneal dystrophy, choroideremia and others. The database software MutationView has the following features: (i) Chromosome ideograms are displayed to list diseases in the mapped regions. (ii) Human body is schematically shown to list diseases on the particular organ and/or tissues. (iii) OMIM, GDB and HGMD information can be retrieved for each disease with hyperlink. (iv) For the gene selected, the genomic and cDNA structures are graphically shown and various mutations are located on appropriate positions (Fig. 1D). Frequency and case number for each mutation are shown as a histogram. Other information such as mutation types, clinical symptoms, age of onset, or inheritance pattern is accompanied with individual mutation and can be used to classify the cases (Fig. 1A). PCR primer information to amplify various regions of the gene is also shown (Fig. 1B and D). (v) Zoom-in allows to display the nucleotide sequence on which exact mutation is indicated and change of the restriction sites due to mutation is analyzed (Fig. 1C). (vi) Entry of new mutation data is readily performed and analyzed with existing data, but modi cation of the data is permitted only to the quali ed curator of each disease gene. (vii) Since any data on WWW site with the same de ned format can be made accessible, MutationView will be able to coordinate many existing locus-speci c mutation databases as a distributed database. The KMeyeDB is accessible via http://www.dmb.med.keio.ac.jp with user ID and password, which are issued after application through the same URL. The software MutationView is made available to the founders and quali ed curators of locus-speci c mutation databases on a collaborative basis to establish a world-wide distributed database system for disease gene mutations. The KMeyeDB and MutationView will be demonstrated at the meeting.