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X inactivation in female mammals involves transcriptional silencing of an entire chromosome in response to a cis-acting noncoding RNA, the X inactive-specific transcript (Xist). Xist can also inactivate autosomal sequences, for example, in X;autosome translocations; but here, silencing appears to be relatively inefficient. This variation has been attributed to either attenuated spreading of Xist RNA at the onset of X inactivation or inefficient maintenance of autosomal silencing. Evidence to date has favored the latter. Here, we demonstrate attenuated spreading of Xist RNA at the onset of X inactivation in the T(X;4)37H X;autosome translocation. Our findings provide direct evidence that underlying chromosome/chromatin features can disrupt spreading of the primary inactivating signal.

Original publication




Journal article


Proc Natl Acad Sci U S A

Publication Date





7706 - 7711


Animals, Cell Line, Chromosomes, Mammalian, Female, Gene Silencing, Histones, Humans, In Situ Hybridization, Fluorescence, Long Interspersed Nucleotide Elements, Lysine, Mice, RNA, Long Noncoding, RNA, Untranslated, Translocation, Genetic, X Chromosome, X Chromosome Inactivation