Title
A Down Syndrome iPS Cell Line Expressing XIST as a Model For Studying Human Chromosome Inactivation
Faculty Advisor
Adams, David S.
Center
UMMC / University of Massachusetts Medical Center
Sponsor
Dr. Jeanne Lawrence
Abstract
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.
Publisher
Worcester Polytechnic Institute
Date Accepted
April 2013
Major
Biology and Biotechnology
Project Type
Major Qualifying Project
Copyright Statement
All authors have granted to WPI a nonexclusive royalty-free license to distribute copies of the work, subject to other agreements. Copyright is held by the author or authors, with all rights reserved, unless otherwise noted.
Accessibility
Unrestricted
Advisor Department
Biology and Biotechnology