The DNA sequence and comparative analysis of human chromosome 20
The DNA sequence and comparative analysis of human chromosome 20
复制标题
DOI：
10.1038/414865a
复制
发表时间：
2001-12-20
期刊：
影响因子：
64.8
通讯作者：
Rogers, J
中科院分区：
文献类型：
--
作者：
Deloukas, P;Matthews, LH;Rogers, J
人类20号染色体的完整序列由59,187,298个碱基对组成，占常染DNA的99.4%。一个26兆碱基的重叠群(Mb)横跨整个短臂，5个重叠群由总计320kb的间隙隔开，横跨这个中部着丝粒染色体的长臂。在该长臂的着丝粒周围区域还确定了另外234,339bp的序列。我们注释了该序列中的727个基因和168个假基因。其中约有%的基因有一个59和39的非翻译区和一个完整的开放阅读框。对20号染色体的序列与另外两种脊椎动物小鼠和河豚的全基因组鸟枪序列数据进行比较分析，提供了一种独立的基因注释效率的衡量标准，并表明这种分析可能占到所有编码外显子的95%以上，几乎所有的基因。
The finished sequence of human chromosome 20 comprises 59,187,298 base pairs (bp) and represents 99.4% of the euchromatic DNA. A single contig of 26 megabases (Mb) spans the entire short arm, and five contigs separated by gaps totalling 320 kb span the long arm of this metacentric chromosome. An additional 234,339 bp of sequence has been determined within the pericentromeric region of the long arm. We annotated 727 genes and 168 pseudogenes in the sequence. About 64% of these genes have a 59 and a 39 untranslated region and a complete open reading frame. Comparative analysis of the sequence of chromosome 20 to whole-genome shotgun-sequence data of two other vertebrates, the mouse Mus musculus and the puffer fish Tetraodon nigroviridis, provides an independent measure of the efficiency of gene annotation, and indicates that this analysis may account for more than 95% of all coding exons and almost all genes.