1. Broad Institute of MIT and Harvard, 320 Charles St, Cambridge, Massachusetts 02141, USA
2. Department of Molecular Biology, Keio University School of Medicine, 35 Shinanomachi, Shinjuku-ku, Tokyo 160-8582, Japan
3. Genome Analysis, Institute of Molecular Biotechnology, Beutenbergstrasse 11, Jena 07745, Germany
4. National Human Genome Research Institute, National Institutes of Health, 50 South Drive Rm 5529, Bethesda, Maryland 20982, USA
5. HUGO Gene Nomenclature Committee (HGNC), The Galton Laboratory, Department of Biology, University College London, Wolfson House, 4 Stephenson Way, London NW1 2HE, UK
6. †Present addresses: MIT Center for Cancer Research, 77 Massachusetts Avenue E18-570, Cambridge, Massachusetts 02139, USA (C.A.W.); McGill University and Genome Quebec Innovation Centre, Montreal, Quebec H3A 1A4, Canada (K.D.); Department of Genetics and Pathology, Uppsala University, SE-751 85 Uppsala, Sweden (U.M.); Photon Medical Research Center, Hamamatsu University School of Medicine, Handayama, Hamamatsu, Shizuoka 431-3192, Japan (S.M.); Boston University Bioinformatics and Systems Biology Program, 24 Cummington St, Boston, Massachusetts 02215, USA (S.C.J.P.); TraitGenetics GmbH, Am Schwabeplan 1b, 06466 Gatersleben, Germany (A.P.); University Clinic for Child and Adolescent Psychiatry, University of Duisburg-Essen, Virchowstr. 174, 45147 Essen, Germany (K.R.); GSF-Forschungszentrum für Umwelt und Gesundheit, Ingolstädter Landstrae 1, 85674 Neuherberg, Germany (G.W.); Signature Diagnostics AG, Voltaireweg 4B, 14469 Potsdam, Germany (A.R.)

Correspondence to: Chad Nusbaum¹Nobuyoshi Shimizu² Correspondence and requests for materials should be addressed to C.N. (Email: chad@broad.mit.edu) or N.S. (Email: shimizu@dmb.med.keio.ac.jp). Accession numbers for all clones contributing to the finished sequence of human chromosome 8 can be found in Supplementary Table S2. The updated human chromosome 8 sequence can be accessed through GenBank accession number NC_000008.

The International Human Genome Sequencing Consortium (IHGSC) recently completed a sequence of the human genome¹. As part of this project, we have focused on chromosome 8. Although some chromosomes exhibit extreme characteristics in terms of length, gene content, repeat content and fraction segmentally duplicated, chromosome 8 is distinctly typical in character, being very close to the genome median in each of these aspects. This work describes a finished sequence and gene catalogue for the chromosome, which represents just over 5% of the euchromatic human genome. A unique feature of the chromosome is a vast region of 15 megabases on distal 8p that appears to have a strikingly high mutation rate, which has accelerated in the hominids relative to other sequenced mammals. This fast-evolving region contains a number of genes related to innate immunity and the nervous system, including loci that appear to be under positive selection²—these include the major defensin (DEF) gene cluster^{3, 4} and MCPH1 ^{5, 6}, a gene that may have contributed to the evolution of expanded brain size in the great apes. The data from chromosome 8 should allow a better understanding of both normal and disease biology and genome evolution.

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