DNA sequence and analysis of human chromosome 9

Article

关键词: HUMAN GENOME SEQUENCE;    BCR-ABL;    SEGMENTAL DUPLICATIONS;    GENE;    EVOLUTION;    REGION;    MAP;    CONSERVATION;    BOUNDARY;    RECEPTOR;   

DOI  :  10.1038/nature02465

来源: SCIE

【 摘 要 】

Chromosome 9 is highly structurally polymorphic. It contains the largest autosomal block of heterochromatin, which is heteromorphic in 6-8% of humans, whereas pericentric inversions occur in more than 1% of the population. The finished euchromatic sequence of chromosome 9 comprises 109,044,351 base pairs and represents >99.6% of the region. Analysis of the sequence reveals many intra- and interchromosomal duplications, including segmental duplications adjacent to both the centromere and the large heterochromatic block. We have annotated 1,149 genes, including genes implicated in male-to-female sex reversal, cancer and neurodegenerative disease, and 426 pseudogenes. The chromosome contains the largest interferon gene cluster in the human genome. There is also a region of exceptionally high gene and G + C content including genes paralogous to those in the major histocompatibility complex. We have also detected recently duplicated genes that exhibit different rates of sequence divergence, presumably reflecting natural selection.

【 授权许可】

Free