The DNA sequence and comparative analysis of human chromosome 5

Article

关键词: HUMAN-GENOME;    GENE;    REGION;    MOUSE;    MAP;    RECOMBINATION;    EVOLUTION;    ELEMENTS;    CLUSTER;    DOMAIN;   

DOI  :  10.1038/nature02919

来源: SCIE

【 摘 要 】

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.

【 授权许可】

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