DNA sequence and analysis of human chromosome 18.

Abstract

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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@article{Nusbaum2005DNASA, title={DNA sequence and analysis of human chromosome 18.}, author={Chad Nusbaum and Michael C. Zody and Mark L. Borowsky and Michael Kamal and Chinnappa D. Kodira and Todd D. Taylor and Charles A. Whittaker and Jean L. Chang and Christina A Cuomo and Ken Dewar and Michael Fitzgerald and Xiaoping Yang and Amr Abouelleil and Nicole R Allen and Scott A. Anderson and Toby Bloom and Boris E Bugalter and Jonathan A. Butler and April Cook and David DeCaprio and Reinhard Engels and Manuel Garber and Andreas Gnirke and Nabil Hafez and Jennifer Hall and Catherine Hosage Norman and Takehiko Itoh and David B. Jaffe and Yoko Kuroki and Jessica A Lehoczky and Annie Lui and Pendexter Macdonald and Evan Mauceli and Tarjei S. Mikkelsen and Jerome W Naylor and Robert Nicol and Cindy Nguyen and Hideki Noguchi and Sinead B. O'Leary and K O'neill and Bruno Piqani and Cherylyn L Smith and Jessica A. Talamas and Kerri Topham and Yasushi Totoki and Atsushi Toyoda and Hester M. Wain and Sarah Young and Qiandong Zeng and Andrew R Zimmer and Asao Fujiyama and Masahira Hattori and Bruce W. Birren and Yoshiyuki Sakaki and Eric S. Lander}, journal={Nature}, year={2005}, volume={437 7058}, pages={551-5} }