A male with two contiguous inactivation centers on a single X chromosome: study of X inactivation and XIST expression.
Hum Mol Genet
; 1(2): 115-9, 1992 May.
Article
em En
| MEDLINE
| ID: mdl-1301147
ABSTRACT
This report investigates the case of a patient with a duplication of the long arm of the X chromosome containing the putative X inactivation center (XIC) and the recently isolated XIST (X inactive-specific transcript) gene which is thought to play a role in the X inactivation process. Based on replication studies, a two-fold higher than normal phosphoglycerate kinase activity and absence of XIST expression, we conclude that the duplicated region is not subject to X-inactivation, despite the presence of two XICs. These results are discussed with respect to different models of X inactivation.
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Base de dados:
MEDLINE
Assunto principal:
Fatores de Transcrição
/
Cromossomo X
/
Mecanismo Genético de Compensação de Dose
/
RNA não Traduzido
Tipo de estudo:
Prognostic_studies
Limite:
Child, preschool
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Hum Mol Genet
Assunto da revista:
BIOLOGIA MOLECULAR
/
GENETICA MEDICA
Ano de publicação:
1992
Tipo de documento:
Article
País de afiliação:
França