The DNA sequence of the human X chromosome

Article

关键词: LINKED MENTAL-RETARDATION;    MAMMALIAN Y-CHROMOSOME;    HUMAN GENOME SEQUENCE;    INACTIVATION CENTER;    REPEAT HYPOTHESIS;    GENE FAMILY;    EVOLUTION;    MUTATIONS;    REGION;    RNA;   

DOI  :  10.1038/nature03440

来源: SCIE

【 摘 要 】

The human X chromosome has a unique biology that was shaped by its evolution as the sex chromosome shared by males and females. We have determined 99.3% of the euchromatic sequence of the X chromosome. Our analysis illustrates the autosomal origin of the mammalian sex chromosomes, the stepwise process that led to the progressive loss of recombination between X and Y, and the extent of subsequent degradation of the Y chromosome. LINE1 repeat elements cover one-third of the X chromosome, with a distribution that is consistent with their proposed role as way stations in the process of X-chromosome inactivation. We found 1,098 genes in the sequence, of which 99 encode proteins expressed in testis and in various tumour types. A disproportionately high number of mendelian diseases are documented for the X chromosome. Of this number, 168 have been explained by mutations in 113 X-linked genes, which in many cases were characterized with the aid of the DNA sequence.

【 授权许可】

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