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X-inactivation profile reveals extensive variability in X-linked gene expression in females
A comprehensive X-inactivation profile of the human X chromosome is presented, representing an estimated 95% of assayable genes in fibroblast-based test systems, and suggests a remarkable and previously unsuspected degree of expression heterogeneity among females. Expand
The human XIST gene: Analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus
Human XIST cDNAs containing at least eight exons and totaling 17 kb have been isolated and sequenced within the region on the X chromosome known to contain the X inactivation center, suggesting that XIST may function as a structural RNA within the nucleus. Expand
The DNA sequence of the human X chromosome
This 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. Expand
A gene from the region of the human X inactivation centre is expressed exclusively from the inactive X chromosome
This gene, called XIST (for Xi-specific transcripts), is a candidate for a gene either involved in or uniquely influenced by the process of X inactivation, and is described as an X-linked gene with a novel expression pattern. Expand
XIST RNA paints the inactive X chromosome at interphase: evidence for a novel RNA involved in nuclear/chromosome structure
Collective results indicate that XIST RNA may be an architectural element of the interphase chromosome territory, possibly a component of nonchromatin nuclear structure that specifically associates with Xi. Expand
Genomic and Genetic Definition of a Functional Human Centromere
The definition of centromeres of human chromosomes requires a complete genomic understanding of these regions. Toward this end, we report integration of physical mapping, genetic, and functionalExpand
Formation of de novo centromeres and construction of first-generation human artificial microchromosomes
This first-generation system for the construction of human artificial chromosomes should be suitable for dissecting the sequence requirements of human centromeres, as well as developing constructs useful for therapeutic applications. Expand
A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules
A gene has now been isolated from the critical region on Xp22.3 to which Kallmann's syndrome locus has been assigned: this gene escapes X inactivation, has a homologue on the Y chromosome, and shows an unusual pattern of conservation across species. Expand
Localization of the X inactivation centre on the human X chromosome in Xq13
An analysis of several rearranged human X chromosomes is reported and a minimal region of overlap is defined that is consistent with models invoking a single XIC and provide a molecular foothold for cloning and analysing the XIC region. Expand
X chromosome-inactivation patterns of 1,005 phenotypically unaffected females.
X-chromosome inactivation is widely believed to be random in early female development and to result in a mosaic distribution of cells, approximately half with the paternally derived X chromosomeExpand