The DNA sequence of the human X chromosome.
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.
Duke Scholars
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- Testis
- Sequence Homology, Nucleic Acid
- Sequence Analysis, DNA
- Repetitive Sequences, Nucleic Acid
- RNA
- Polymorphism, Single Nucleotide
- Male
- Humans
- Genomics
- Genetics, Medical
Citation
Published In
DOI
EISSN
Publication Date
Volume
Issue
Start / End Page
Location
Related Subject Headings
- Testis
- Sequence Homology, Nucleic Acid
- Sequence Analysis, DNA
- Repetitive Sequences, Nucleic Acid
- RNA
- Polymorphism, Single Nucleotide
- Male
- Humans
- Genomics
- Genetics, Medical