The DNA sequence and comparative analysis of human chromosome 5
The DNA sequence and comparative analysis of human chromosome 5
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DOI：
10.1038/nature02919
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发表时间：
2004-09-16
期刊：
影响因子：
64.8
通讯作者：
Rubin, EM
中科院分区：
文献类型：
--
作者：
Schmutz, J;Martin, J;Rubin, EM
5号染色体是人类最大的染色体之一，含有大量的染色体内复制，但它具有最低的基因密度之一。这部分是由许多基因贫乏的区域，显示出显着程度的非编码保守与非哺乳类脊椎动物，这表明他们在功能上受到限制。总的来说，我们编译了1.777亿个碱基对的高度准确的成品序列，其中包含923个手动策划的蛋白质编码基因，包括原钙粘蛋白和白细胞介素基因家族。我们还完全测序了5号染色体特异性内部重复的大版本。这些重复是最近的进化事件，可能在人类生理变异中具有机械作用，因为这些区域的缺失是导致包括脊髓性肌萎缩症在内的衰弱性疾病的原因。
Chromosome 5 is one of the largest human chromosomes and contains numerous intrachromosomal duplications, yet it has one of the lowest gene densities. This is partially explained by numerous gene-poor regions that display a remarkable degree of noncoding conservation with non-mammalian vertebrates, suggesting that they are functionally constrained. In total, we compiled 177.7 million base pairs of highly accurate finished sequence containing 923 manually curated protein-coding genes including the protocadherin and interleukin gene families. We also completely sequenced versions of the large chromosome-5-specific internal duplications. These duplications are very recent evolutionary events and probably have a mechanistic role in human physiological variation, as deletions in these regions are the cause of debilitating disorders including spinal muscular atrophy.