title: A male with two contiguous inactivation centers on a single X chromosome: study of X inactivation and XIST expression.
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.
authors.affiliation: INSERM U242, Marseille, France.
authors.forename: F
authors.initials: F
authors.lastname: Muscatelli
authors.forename: D
authors.initials: D
authors.lastname: Lena
authors.forename: M G
authors.initials: MG
authors.lastname: Mettei
authors.forename: M
authors.initials: M
authors.lastname: Fontes
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D001483:Base Sequence; D002478:Cells, Cultured; D002675:Child, Preschool; D004277:DNA, Single-Stranded; D004303:Dosage Compensation, Genetic; D005260:Female; D015870:Gene Expression; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D005810:Multigene Family; D016133:Polymerase Chain Reaction; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D014157:Transcription Factors / Q000235:genetics*; D014960:X Chromosome
chemical_list: D004277:DNA, Single-Stranded; D062085:RNA, Long Noncoding; D022661:RNA, Untranslated; D014157:Transcription Factors; C077885:XIST non-coding RNA