DNA sequence and analysis of human chromosome 18
DNA sequence and analysis of human chromosome 18
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DOI：
10.1038/nature03983
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发表时间：
2005-09-22
期刊：
影响因子：
64.8
通讯作者：
Lander, ES
中科院分区：
文献类型：
--
作者：
Nusbaum, C;Zody, MC;Lander, ES
18 号染色体似乎具有所有人类染色体中最低的基因密度，并且是三体个体能够存活到足月的仅有的三个染色体之一(1)。还有许多源自 18 号染色体三体性和非整倍性的遗传性疾病。在这里，我们报告了人类 18 号染色体的完整序列和基因注释，这将有助于更好地了解该染色体的正常和疾病生物学。尽管18号染色体上的蛋白质编码基因密度较低，但我们发现哺乳动物中进化保守的非蛋白质编码序列的比例接近全基因组平均水平。将这种分析扩展到整个人类基因组，我们发现保守的非蛋白质编码序列的密度在很大程度上与基因密度不相关。这对于非蛋白质编码序列元件的性质和作用具有重要意义。
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(1). 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.