Scientific Publications

DNA sequence and analysis of human chromosome 8.

Publication TypeJournal Article
AuthorsNusbaum, C., Mikkelsen TS, Zody MC, Asakawa S., Taudien S., Garber M., Kodira CD, Schueler MG, Shimizu A., Whittaker CA, Chang JL, Cuomo CA, Dewar K., FitzGerald MG, Yang X., Allen NR, Anderson S., Asakawa T., Blechschmidt K., Bloom T., Borowsky ML, Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley KT, Dorris L 3rd, Engels R., Glöckner G., Hafez N., Hagopian DS, Hall JL, Ishikawa SK, Jaffe DB, Kamat A., Kudoh J., Lehmann R., Lokitsang T., MacDonald P., Major JE, Matthews CD, Mauceli E., Menzel U., Mihalev AH, Minoshima S., Murayama Y., Naylor JW, Nicol R., Nguyen C., O'Leary SB, O'Neill K., Parker SC, Polley A., Raymond CK, Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith CL, Sneddon TP, Talamas JA, Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young SK, Zeng Q., Zimmer AR, Rosenthal A., Birren BW, Platzer M., Shimizu N., and Lander E. S.
AbstractThe International Human Genome Sequencing Consortium (IHGSC) recently completed a sequence of the human genome. 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 approximately 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 selection--these include the major defensin (DEF) gene cluster and MCPH1, 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.
Year of Publication2006
JournalNature
Volume439
Issue7074
Pages331-5
Date Published (YYYY/MM/DD)2006/01/19
ISSN Number0028-0836
DOI10.1038/nature04406
PubMedhttp://www.ncbi.nlm.nih.gov/pubmed/16421571?dopt=Abstract