title: The DNA sequence of the human X chromosome.
abstract: 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.
authors.affiliation: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK. mtr@sanger.ac.uk
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mesh_terms: D000818:Animals; D000951:Antigens, Neoplasm / Q000235:genetics; D002503:Centromere / Q000235:genetics; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics; D020451:Contig Mapping; D003434:Crossing Over, Genetic / Q000235:genetics; D004303:Dosage Compensation, Genetic; D019143:Evolution, Molecular; D005260:Female; D008040:Genetic Linkage / Q000235:genetics; D005826:Genetics, Medical; D023281:Genomics; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D012313:RNA / Q000235:genetics; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics; D017422:Sequence Analysis, DNA; D012689:Sequence Homology, Nucleic Acid; D013737:Testis / Q000378:metabolism
chemical_list: D000951:Antigens, Neoplasm; D012313:RNA