The DNA sequence of the human X chromosome
By M. Ross, D. Grafham, A. Coffey, S. Scherer, K. McLay, D. Muzny, M. Platzer, G. Howell, C. Burrows, C. Bird and 272 more. Nature, 2005
1,099 citations recorded by the source corpus.
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.
Subfields: Genetics, Molecular Biology, Plant Science
View Paper: https://www.semanticscholar.org/paper/e5794b21bbca2473bce878683ded4f977b4e4c79
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In Genetics
- Ian J. Deary
- Peter M. Visscher
- Paul Flicek
- Wendy Johnson
- D. Charlesworth
- B. Charlesworth
- Chris Tyler-Smith
- Michael R. Stratton
In Molecular Biology
- Suzanna Lewis
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- Ian J. Deary
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- Michael R. Stratton
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In Plant Science
- Paul Flicek
- Ian J. Deary
- Ewan Birney
- Peter M. Visscher
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- D. Charlesworth
- Heng Li
- Cédric Feschotte
Citations in the corpus
- A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation (2009, background): “The X chromosome is 155 Mb long and comprises approximately 5% of a haploid human genome 15 .”
- Genetic foundations of human intelligence (2009, background): “Moreover, many of the genes on the X chromosome do not appear to be polymorphic in the general population (Ross et al. 2005), suggesting that these genes could be involved in fundamental brain organization.”
- Assumption-Free Estimation of Heritability from Genome-Wide Identity-by-Descent Sharing between Full Siblings (2006, background): “We have ignored the contribution of the sex chromosomes to genome-wide IBD. In humans, the X chromosome accounts for 4% of genes and 5% of physical length [”
- EGASP: the human ENCODE Genome Annotation Assessment Project (2006, methodology): “We defined the sequences used for the EGASP experimental evaluation by taking advantage of the prior work of the HAVANA team [32], which had previously comprehensively annotated and released annotation for several human chromosomes [36-42].”
- The X chromosome in immune functions: when a chromosome makes the difference (2010, background): “The melanoma antigen (MAGE) family of genes, which are members of the cancer–testis antigen group, are, under normal conditions, exclusively expressed in the teste”
- Transposable elements and the epigenetic regulation of the genome (2007, background): “In support of this idea, the X chromosomes of many mammals, including humans, are rich in LINE elements, except in regions that are prone to escaping X inactivatio”