人类18号染色体的DNA序列及分析

DNA sequence and analysis of human chromosome 18.

作者信息

Nusbaum Chad, Zody Michael C, Borowsky Mark L, Kamal Michael, Kodira Chinnappa D, Taylor Todd D, Whittaker Charles A, Chang Jean L, Cuomo Christina A, Dewar Ken, FitzGerald Michael G, Yang Xiaoping, Abouelleil Amr, Allen Nicole R, Anderson Scott, Bloom Toby, Bugalter Boris, Butler Jonathan, Cook April, DeCaprio David, Engels Reinhard, Garber Manuel, Gnirke Andreas, Hafez Nabil, Hall Jennifer L, Norman Catherine Hosage, Itoh Takehiko, Jaffe David B, Kuroki Yoko, Lehoczky Jessica, Lui Annie, Macdonald Pendexter, Mauceli Evan, Mikkelsen Tarjei S, Naylor Jerome W, Nicol Robert, Nguyen Cindy, Noguchi Hideki, O'Leary Sinéad B, O'Neill Keith, Piqani Bruno, Smith Cherylyn L, Talamas Jessica A, Topham Kerri, Totoki Yasushi, Toyoda Atsushi, Wain Hester M, Young Sarah K, Zeng Qiandong, Zimmer Andrew R, Fujiyama Asao, Hattori Masahira, Birren Bruce W, Sakaki Yoshiyuki, Lander Eric S

机构信息

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

出版信息

Nature. 2005 Sep 22;437(7058):551-5. doi: 10.1038/nature03983.

DOI:10.1038/nature03983

PMID:16177791

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.

摘要

18号染色体似乎是所有人染色体中基因密度最低的，并且是仅有的三条三体个体能够存活至足月的染色体之一。此外，还有许多由18号染色体三体性和非整倍性引发的遗传疾病。在此，我们报告人类18号染色体的完整序列和基因注释，这将有助于更好地理解该染色体的正常生物学和疾病生物学。尽管18号染色体上蛋白质编码基因的密度较低，但我们发现哺乳动物中进化上保守的非蛋白质编码序列的比例接近全基因组平均水平。将这一分析扩展至整个人类基因组，我们发现保守的非蛋白质编码序列的密度与基因密度在很大程度上不相关。这对非蛋白质编码序列元件的性质和作用具有重要意义。