The spreading of X-inactivation into autosomal material of an X;autosome translocation: evidence for a difference between autosomal and X-chromosomal DNA

Article Abstract:

Evidence for variation between X-chromosomal and autosomal DNA has come from research which found spread of X-inactivation to autosomal material of an X;autosome translocation. Transcriptional activity of autosomal and X-linked loci going across an inactive translocation in a phenotypically normal female with a 46,X,der(X)t(X;4)(q22;q24) karyotype has been investigated. Results show, in general, that genes known to escape inactivation on normal inactive X chromosomes exist. The fact that 30% of tested autosomal genes, a large part, did not undergo inactivation could be thought to show that autosomal material does not have X chromosome-specific features associated with spreading and/or maintenance of inactivation.

Analysis, DNA, Gene expression

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Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1

Article Abstract:

Turner syndrome, a complex human phenotype associated with complete or partial monosomy X, is discussed. A locus or loci for this syndrome likely exists at Xp11.2-p22.1 and results of the study of 28 apparently nonmosaic subjects with partial deletion of Xp can be used for genetic counseling of those with partial monosomy X.

Canada, Planning, Usage, Genetic aspects, Chromosome mapping, Chromosome abnormalities, Genetic counseling, Turner syndrome

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X-chromosome inactivation spreads itself: effects in autosomes

Article Abstract:

X-chromosome inactivation, which spreads itself, has a mechanism which has remained for the most part a mystery. Investigating the effects on autosomes has shed some light on the mystery. New insight has come from a report of a female with an unbalanced X;autosome translocation that involved the autosome 4q.

United Kingdom, Editorial, Cellular signal transduction

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