|Publication Type||Journal Article|
|Year of Publication||2005|
|Authors||Nusbaum, 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, CHosage, 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, Lander, ES|
|Date Published||2005 Sep 22|
|Keywords||Aneuploidy, Animals, Chromosomes, Human, Pair 18, Conserved Sequence, CpG Islands, DNA, Exons, Expressed Sequence Tags, Genes, Genome, Human, Humans, Introns, Molecular Sequence Data, Sequence Analysis, DNA, Synteny|
Chromosome 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.