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W</style></author><author><style face="normal" font="default" size="100%">Willard, Huntington F</style></author><author><style face="normal" font="default" size="100%">Wilson, Richard K</style></author><author><style face="normal" font="default" size="100%">Waterston, Robert H</style></author><author><style face="normal" font="default" size="100%">Rice, Catherine M</style></author><author><style face="normal" font="default" size="100%">Vaudin, Mark</style></author><author><style face="normal" font="default" size="100%">Coulson, Alan</style></author><author><style face="normal" font="default" size="100%">Nelson, David L</style></author><author><style face="normal" font="default" size="100%">Weinstock, George</style></author><author><style face="normal" font="default" size="100%">Sulston, John E</style></author><author><style face="normal" font="default" size="100%">Durbin, Richard</style></author><author><style face="normal" font="default" size="100%">Hubbard, Tim</style></author><author><style face="normal" font="default" size="100%">Gibbs, Richard A</style></author><author><style face="normal" font="default" size="100%">Beck, Stephan</style></author><author><style face="normal" font="default" size="100%">Rogers, Jane</style></author><author><style face="normal" font="default" size="100%">Bentley, David R</style></author></authors></contributors><titles><title><style face="normal" font="default" size="100%">The DNA sequence of the human X chromosome.</style></title><secondary-title><style face="normal" font="default" size="100%">Nature</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Nature</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Animals</style></keyword><keyword><style  face="normal" font="default" size="100%">Antigens, Neoplasm</style></keyword><keyword><style  face="normal" font="default" size="100%">Centromere</style></keyword><keyword><style  face="normal" font="default" size="100%">Chromosomes, Human, X</style></keyword><keyword><style  face="normal" font="default" size="100%">Chromosomes, Human, Y</style></keyword><keyword><style  face="normal" font="default" size="100%">Contig Mapping</style></keyword><keyword><style  face="normal" font="default" size="100%">Crossing Over, Genetic</style></keyword><keyword><style  face="normal" font="default" size="100%">Dosage Compensation, Genetic</style></keyword><keyword><style  face="normal" font="default" size="100%">Evolution, Molecular</style></keyword><keyword><style  face="normal" font="default" size="100%">Female</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Linkage</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetics, Medical</style></keyword><keyword><style  face="normal" font="default" size="100%">Genomics</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">Male</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword><keyword><style  face="normal" font="default" size="100%">Repetitive Sequences, Nucleic Acid</style></keyword><keyword><style  face="normal" font="default" size="100%">RNA</style></keyword><keyword><style  face="normal" font="default" size="100%">Sequence Analysis, DNA</style></keyword><keyword><style  face="normal" font="default" size="100%">Sequence Homology, Nucleic Acid</style></keyword><keyword><style  face="normal" font="default" size="100%">Testis</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2005</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2005 Mar 17</style></date></pub-dates></dates><volume><style face="normal" font="default" size="100%">434</style></volume><pages><style face="normal" font="default" size="100%">325-37</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;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.&lt;/p&gt;
</style></abstract><issue><style face="normal" font="default" size="100%">7031</style></issue><custom1><style face="normal" font="default" size="100%">&lt;p&gt;http://www.ncbi.nlm.nih.gov/pubmed/15772651?dopt=Abstract&lt;/p&gt;
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