The DNA sequence and analysis of human chromosome 6

Article

关键词: GENETIC-VARIATION;    SEGMENTAL DUPLICATIONS;    MEIOTIC RECOMBINATION;    6P22.3 GENE;    LARGE-SCALE;    RNA GENES;    MAP;    SCHIZOPHRENIA;    MUTATIONS;    DYSBINDIN;   

DOI  :  10.1038/nature02055

来源: SCIE

【 摘 要 】

Chromosome 6 is a metacentric chromosome that constitutes about 6% of the human genome. The finished sequence comprises 166,880,988 base pairs, representing the largest chromosome sequenced so far. The entire sequence has been subjected to high-quality manual annotation, resulting in the evidence-supported identification of 1,557 genes and 633 pseudogenes. Here we report that at least 96% of the protein-coding genes have been identified, as assessed by multi-species comparative sequence analysis, and provide evidence for the presence of further, otherwise unsupported exons/ genes. Among these are genes directly implicated in cancer, schizophrenia, autoimmunity and many other diseases. Chromosome 6 harbours the largest transfer RNA gene cluster in the genome; we show that this cluster co-localizes with a region of high transcriptional activity. Within the essential immune loci of the major histocompatibility complex, we find HLA-B to be the most polymorphic gene on chromosome 6 and in the human genome.

【 授权许可】

Free