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Published online before print February 8, 2001, 10.1101/gr.GR1547R
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Vol. 11, Issue 3, 422-435, March 2001

METHODS
Toward a Catalog of Human Genes and Proteins: Sequencing and Analysis of 500 Novel Complete Protein Coding Human cDNAs

Stefan Wiemann,1,12 Bernd Weil,1,2 Ruth Wellenreuther,1 Johannes Gassenhuber,1,2 Sabine Glassl,3 Wilhelm Ansorge,3 Michael Böcher,4 Helmut Blöcker,4 Stefan Bauersachs,5 Helmut Blum,5 Jürgen Lauber,6 Andreas Düsterhöft,6 Andreas Beyer,7 Karl Köhrer,7 Normann Strack,2 Hans-Werner Mewes,2 Birgit Ottenwälder,8 Brigitte Obermaier,8 Jens Tampe,9 Dagmar Heubner,10 Rolf Wambutt,10 Bernhard Korn,1,11 Michaela Klein,1 and Annemarie Poustka1

1 Molecular Genome Analysis, German Cancer Research Center, 69120 Heidelberg, Germany; 2 MIPS, GSF, 82152 Martinsried, Germany; 3 Biochemical Instrumentation, European Molecular Biology Laboratory, 69117 Heidelberg, Germany; 4 GBF-Genome Analysis, 38124 Braunschweig, Germany; 5 Genzentrum der LMU München, 81377 München, Germany; 6 QIAGEN GmbH, 40724 Hilden, Germany; 7 Biologisch-Medizinisches Forschungszentrum, Heinrich-Heine-Universität Düsseldorf, 40225 Düsseldorf, Germany; 8 MediGenomix GmbH, 82152 Martinsried, Germany; 9 Fraunhofer Gesellschaft, 80636 München, Germany; 10 AGOWA GmbH, 12489 Berlin, Germany; 11 Resource Center of the German Genome Project, 69120 Heidelberg, Germany

With the complete human genomic sequence being unraveled, the focus will shift to gene identification and to the functional analysis of gene products. The generation of a set of cDNAs, both sequences and physical clones, which contains the complete and noninterrupted protein coding regions of all human genes will provide the indispensable tools for the systematic and comprehensive analysis of protein function to eventually understand the molecular basis of man. Here we report the sequencing and analysis of 500 novel human cDNAs containing the complete protein coding frame. Assignment to functional categories was possible for 52% (259) of the encoded proteins, the remaining fraction having no similarities with known proteins. By aligning the cDNA sequences with the sequences of the finished chromosomes 21 and 22 we identified a number of genes that either had been completely missed in the analysis of the genomic sequences or had been wrongly predicted. Three of these genes appear to be present in several copies. We conclude that full-length cDNA sequencing continues to be crucial also for the accurate identification of genes. The set of 500 novel cDNAs, and another 1000 full-coding cDNAs of known transcripts we have identified, adds up to cDNA representations covering 2%-5 % of all human genes. We thus substantially contribute to the generation of a gene catalog, consisting of both full-coding cDNA sequences and clones, which should be made freely available and will become an invaluable tool for detailed functional studies.

[The sequence data described in this paper have been submitted to the EMBL database under the accession nos. given in Table 2.]

12 Corresponding author.

11:422-435 ©2001 by Cold Spring Harbor Laboratory Press  ISSN 1088-9051/01 $5.00
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