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Nature. 2005 Sep 22;437(7058):551-5.

DNA sequence and analysis of human chromosome 18.

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  • 1Broad Institute of MIT and Harvard, 320 Charles Street, Cambridge, Massachusetts 02141, USA.

Erratum in

  • Nature. 2005 Dec 1;438(7068):696. O'Neill, Keith [added].


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.

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