Student Work

A Down Syndrome iPS Cell Line Expressing XIST as a Model For Studying Human Chromosome Inactivation

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Our lab has inserted an inducible XIST transgene into the third chromosome 21 in a Down Syndrome (DS) iPS cell line in order to correct for the trisomy, provide us with the first human model to explore the initiation of silencing of an entire human chromosome, and study the accumulation of heterochromatic marks and the formation of the compact Barr body. Our model is shown here to shut down and compact human chromosome 21 much like the naturally occurring process of X inactivation reported in female mice. Additional data indicates that the silencing of gene transcription is separate from the silencing of DNA repeats, and that gene silencing correlates with the accumulation of ubiquitin as a heterochromatic mark on the entire chromosome.

  • This report represents the work of one or more WPI undergraduate students submitted to the faculty as evidence of completion of a degree requirement. WPI routinely publishes these reports on its website without editorial or peer review.
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  • E-project-042313-221749
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  • 2013
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  • 2013-04-23
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