Keywords:
DISEASE
;
DISEASES
;
GENE
;
GENES
;
PROTEIN
;
PROTEINS
;
RNA
;
DNA
;
recombination
;
tumour
;
BIOLOGY
;
SEQUENCE
;
chromosome
;
NUMBER
;
MUTATION
;
inactivation
;
REGION
;
MUTATIONS
;
EVOLUTION
;
DEGRADATION
;
CHROMOSOMES
;
GENE FAMILY
;
AID
;
HUMAN GENOME SEQUENCE
;
INACTIVATION CENTER
;
LINKED MENTAL-RETARDATION
;
MAMMALIAN Y-CHROMOSOME
;
REPEAT HYPOTHESIS
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
Type of Publication:
Journal article published
Deep Link:
http://www.dkfz.de/cgi-bin/sel?http://www.dkfz.de/PublicationManager/Show/ShowJournal.aspx%3fpublishedId=2598
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