KMeyeDB: Keio Mutation Database for Eye Disease

MutationV iew

Genes Constructed on a Graphical Distributed Database
SystemShinsei Minoshima
Susumu Mitsuyama
Saho Ohno
mituyama@dmb.med.keio.ac.jp
saho@dmb.med.keio.ac.jp
Takashi Kawamura
Nobuyoshi Shimizu

mino@dmb.med.keio.ac.jp

kawamura@dmb.med.keio.ac.jp

shimizu@dmb.med.keio.ac.jp

Department of Molecular Biology, Keio University School of Medicine
35 Shinanomachi, Shinjuku-ku, Tokyo, 160-8582 Japan.

More than 4,300 human diseases have been identi ed to be inheritable. To date, 1,400 disease locihave been mapped to particular chromosomal regions and almost 800 disease-causing genes and theassociated 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 eachmutation 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 beused to classify the cases (Fig. 1A). PCR primer information to amplify various regions of thegene is also shown (Fig. 1B and D).
(v) Zoom-in allows to display the nucleotide sequence on which exact mutation is indicated andchange 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 tothe founders and quali ed curators of locus-speci c mutation databases on a collaborative basis toestablish a world-wide distributed database system for disease gene mutations. The KMeyeDB andMutationView will be demonstrated at the meeting.
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Figure 1: Various windows of KMeyeDB constructed on MutationView. Here, mutation data of themyocilin gene (MYOC) causing a type of glaucoma are shown. A. Classify window: One of 4 items,Mutation Frequency, Mutation Type, Median Age at Diagnosis and Ethnic Origin, can be used toclassify data by clicking corresponding buttons. B. PCR detail window: Primer sequences and reaction
condition are shown. C: Mutation detail window: Sequences of normal and mutation alleles are shownwith restriction sites. D: Gene structure window: Classi ed mutations by Ethnic Origin are shownwith PCR primers.

Acknowledgements
This work has been carried out in collaboration with Chi Co., Ltd. This work was supported in partby a Grant-in-Aid for Scienti c Research on Priority Areas from the Ministry of Education, Science,Sports and Culture of Japan and a fund for the \Research for the Future" Program from the Japan
Society for the Promotion of Science (JSPS).

References[1] Minoshima, S., Mitsuyama, S., Ohno, S., Kawamura, T. and Shimizu, N., Keio Mutation
Database for Eye Disease Genes (KMeyeDB), Nucleic Acids Res., in press.
[2] Minoshima, S., Mitsuyama, S., Ohno, S., Kawamura, T. and Shimizu, N., MutationView: A
Distributed Database for Human Disease Gene Mutations, Genome Informatics 1997, UniversalAcademy Press, 244{245, 1997.
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