Open AccessJournal Article
Genetic evidence for the inactivation of a human autosomal locus attached to an inactive X chromosome.
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TLDR
Mouse-human cell hybrid clones retaining an inactive translocated chromosome involving the human X and 13 were isolated and genetic evidence for the spreading of inactivation into the autosomal segment in an inactive human X-autosome translocation is provided.Abstract:
Mouse-human cell hybrid clones retaining an inactive translocated chromosome involving the human X and 13 were isolated. Esterase D, a marker on the segment of chromosome 13 translocated to the X, was not expressed in these clones. These results provide genetic evidence for the spreading of inactivation into the autosomal segment in an inactive human X-autosome translocation.read more
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Retinoblastoma: clues to human oncogenesis.
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Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: Implications for X-Y interchange
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Mammalian X chromosome inactivation.
TL;DR: The initial step in mammalian sexual differentiation is based on the XX: XY chromosomal system, and a single X chromosome is active in the female soma so as to eliminate gross aneuploidy effects between males and females; this is the broad outline of mammalian X-chromosome regulation.
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Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X‐autosome translocations: A review of 122 cases
TL;DR: It is suggested that selection against cells with a late replicating translocated translocated X is driven predominantly by a functional disomy X, and that the efficiency of this process depends primarily on the position of the X break point, and hence the size of the noninactivated region.
Journal ArticleDOI
The Spreading of X Inactivation into Autosomal Material of an X;autosome Translocation: Evidence for a Difference between Autosomal and X-Chromosomal DNA
TL;DR: The findings are broadly consistent with the existence of genes known to escape inactivation on normal inactive X chromosomes, but the fact that a high proportion of tested autosomal genes escaped inactivation may indicate that autosomal material lacks X chromosome-specific features that are associated with the spreading and/or maintenance of inactivation.