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Theses and Dissertations

Characterizing the role of CECR1 in cat eye syndrome by using mouse models Open Access

Descriptions

Other title
Subject/Keyword
CECR1
mouse
cat eye syndrome
Type of item
Thesis
Degree grantor
University of Alberta
Author or creator
Yang, Fang
Supervisor and department
Heather McDermid (Biological Sciences)
Examining committee member and department
Roseline Godbout (Oncology)
Andrew Waskiewicz (Biological Sciences)
Department
Department of Biological Sciences
Specialization

Date accepted
2010-04-15T19:36:43Z
Graduation date
2010-06
Degree
Master of Science
Degree level
Master's
Abstract
CECR1 (cat eye syndrome chromosome region, candidate 1) is located on chromosome 22q11.2. Duplication of this region results in the human disorder cat eye syndrome (CES), which includes a variety of heart defects. CECR1 is suggested to be dosage sensitive, based on a predicted role in controlling extracellular adenosine level during development, and thus may be responsible for some of the CES features, including heart abnormalities. Animal models were established to study the effect of overexpressing CECR1 in hearts. Abnormal phenotypes in hearts were not detected in zebrafish embryos overexpressing zebrafish cecr1. Thinner right ventricular walls and atrioventricular (AV) valve disorganization were observed in embryos of the transgenic mouse line FVB/N-Tg(MHC-hCECR1), which expressed human CECR1 specifically in cardiac muscle. The observed phenotypes were not typical of patients with CES; however, disrupted adenosine level resulting from increased adenosine deaminase activity might be responsible for the phenotypes.
Language
English
Rights
License granted by Fang Yang (fy3@ualberta.ca) on 2010-04-15T19:31:35Z (GMT): Permission is hereby granted to the University of Alberta Libraries to reproduce single copies of this thesis and to lend or sell such copies for private, scholarly or scientific research purposes only. Where the thesis is converted to, or otherwise made available in digital form, the University of Alberta will advise potential users of the thesis of the above terms. The author reserves all other publication and other rights in association with the copyright in the thesis, and except as herein provided, neither the thesis nor any substantial portion thereof may be printed or otherwise reproduced in any material form whatsoever without the author's prior written permission.
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