The DNA sequence of the human X chromosome.
Nature
; 434(7031): 325-37, 2005 Mar 17.
Article
en En
| MEDLINE
| ID: mdl-15772651
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.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Análisis de Secuencia de ADN
/
Evolución Molecular
/
Genómica
/
Cromosomas Humanos X
Límite:
Animals
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Female
/
Humans
/
Male
Idioma:
En
Revista:
Nature
Año:
2005
Tipo del documento:
Article
País de afiliación:
Reino Unido