Attenuated spread of X-inactivation in an X;autosome translocation.

Proc Natl Acad Sci U S A

Developmental Epigenetics, Medical Research Council Clinical Sciences Center, Imperial College Faculty of Medicine, Hammersmith Hospital, DuCane Road, London W12 ONN, United Kingdom.

Published: May 2006

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.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1472509PMC
http://dx.doi.org/10.1073/pnas.0602021103DOI Listing

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