The DNA sequence and biological annotation of human chromosome 1
The DNA sequence and biological annotation of human chromosome 1
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DOI：
10.1038/nature04727
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发表时间：
2006-05-18
期刊：
影响因子：
64.8
通讯作者：
Bentley, DR
中科院分区：
文献类型：
--
作者：
Gregory, SG;Barlow, KF;Bentley, DR
每个人类染色体的参考序列为理解基因组功能、变异和进化提供了框架。在这里，我们报告完成的人类1号染色体的序列和生物学注释。1号染色体基因密集，有3，141个基因和991个假基因，许多编码序列重叠。1号染色体的重排和突变在癌症和许多其他疾病中普遍存在。序列变异的模式揭示了可能有助于人类适应性的特定基因中最近选择的信号，也揭示了没有明显功能的区域。精细规模的重组发生在沿着序列的不同强度的热点中，并且在基因附近富集。这些和其他人类生物学和1号染色体内编码的疾病的研究可以用高度准确的注释序列作为构成参考人类基因组的完整染色体序列集的一部分。
The reference sequence for each human chromosome provides the framework for understanding genome function, variation and evolution. Here we report the finished sequence and biological annotation of human chromosome 1. Chromosome 1 is gene-dense, with 3,141 genes and 991 pseudogenes, and many coding sequences overlap. Rearrangements and mutations of chromosome 1 are prevalent in cancer and many other diseases. Patterns of sequence variation reveal signals of recent selection in specific genes that may contribute to human fitness, and also in regions where no function is evident. Fine-scale recombination occurs in hotspots of varying intensity along the sequence, and is enriched near genes. These and other studies of human biology and disease encoded within chromosome 1 are made possible with the highly accurate annotated sequence, as part of the completed set of chromosome sequences that comprise the reference human genome.