Scientific Publications

DNA sequence and analysis of human chromosome 18.

Publication TypeJournal Article
AuthorsNusbaum, C., Zody MC, Borowsky ML, Kamal M., Kodira CD, Taylor TD, Whittaker CA, Chang JL, Cuomo CA, Dewar K., FitzGerald MG, Yang X., Abouelleil A., Allen NR, Anderson S., Bloom T., Bugalter B., Butler J., Cook A., DeCaprio D., Engels R., Garber M., Gnirke A., Hafez N., Hall JL, Norman CH, Itoh T., Jaffe DB, Kuroki Y., Lehoczky J., Lui A., MacDonald P., Mauceli E., Mikkelsen TS, Naylor JW, Nicol R., Nguyen C., Noguchi H., O'Leary SB, O'Neill K., Piqani B., Smith CL, Talamas JA, Topham K., Totoki Y., Toyoda A., Wain HM, Young SK, Zeng Q., Zimmer AR, Fujiyama A., Hattori M., Birren BW, Sakaki Y., and Lander E. S.
AbstractChromosome 18 appears to have the lowest gene density of any human chromosome and is one of only three chromosomes for which trisomic individuals survive to term. There are also a number of genetic disorders stemming from chromosome 18 trisomy and aneuploidy. Here we report the finished sequence and gene annotation of human chromosome 18, which will allow a better understanding of the normal and disease biology of this chromosome. Despite the low density of protein-coding genes on chromosome 18, we find that the proportion of non-protein-coding sequences evolutionarily conserved among mammals is close to the genome-wide average. Extending this analysis to the entire human genome, we find that the density of conserved non-protein-coding sequences is largely uncorrelated with gene density. This has important implications for the nature and roles of non-protein-coding sequence elements.
Year of Publication2005
JournalNature
Volume437
Issue7058
Pages551-5
Date Published (YYYY/MM/DD)2005/09/22
ISSN Number0028-0836
DOI10.1038/nature03983
PubMedhttp://www.ncbi.nlm.nih.gov/pubmed/16177791?dopt=Abstract