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Molecular and phenotypic characterization of Cecr2 mouse models: implications for the role of mesenchymal/epithelial regulation in neural tube and renal development Open Access


Other title
Chromatin remodelling
Neural tube closure
Kidney development
Type of item
Degree grantor
University of Alberta
Author or creator
Fairbridge, Nicholas, A
Supervisor and department
Mcdermid, Heather (Biological Sciences)
Examining committee member and department
Pilgrim, David (Biological Sciences)
Wevrick, Rachel (Medical Genetics)
Hoodless, Pamela (Medical Genetics)
Godbout, Roseline (Oncology)
Department of Biological Sciences
Molecular Biology and Genetics
Date accepted
Graduation date
Doctor of Philosophy
Degree level
Embryogenesis is a crucial process during mammalian development that relies on a wide variety of genetic and epigenetic regulatory factors. Chromatin remodeling complexes are one such epigenetic means to control gene transcription through alteration of DNA-histone packaging. The developmental roles of chromatin remodelling protein CECR2 are determined through the characterization of Cecr2 mouse mutations. To this end, a new Cecr2tm1.1Hemc deletion allele is presented. Phenotypic examination of the Cecr2tm1.1Hemc mutation, alongside the founding Cecr2Gt45Bic allele, expands the Cecr2-associated mutant defects to include the neurulation-associated defects of midline facial clefts, encephaloceles, reduced adult brain weight, and caudal vertebrae malformations in addition to the prevalent exencephaly. The Cecr2 mutations on a FVB/N genetic background further develops a series of congenital abnormalities of the kidney and urinary tract. The expression of Cecr2 during renal development is in the condensing metanephric mesenchyme and the transient comma-shaped and S-shaped body epithelium of the developing nephrons. Similarities amongst the affected organ systems suggest an underlying defect in mesenchymal-epithelial transitions. Cecr2Gt45Bic homozygous mutants at the time of neurulation show a variety of transcriptional changes in both the BALB/c and FVB/N strains. Amongst the altered genes is an abundance of mesenchymal and epithelial transcription factors and developmental regulators. The affected transcripts cluster into enriched regions on chromosome 6A, 6F-G and chromosome 12B, which may indicate direct targets of CECR2 remodeling. The molecular and developmental roles of the candidate genes suggest CECR2 regulates a mesenchymal-associated gene network, whose misregulation results in the formation of cranial neural tube defects.
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 these terms. The author reserves all other publication and other rights in association with the copyright in the thesis and, except as herein before 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.
Citation for previous publication
Dawe, C. E., Kooistra, M. K., Fairbridge, N. A., Pisio, A. C., and McDermid, H. E. (2011). Role of chromatin remodeling gene Cecr2 in neurulation and inner ear development. Developmental Dynamics 240, 372-383.Fairbridge, N. A., Dawe, C. E., Niri, F. H., Kooistra, M. K., King-Jones, K., and McDermid, H. E. (2010). Cecr2 mutations causing exencephaly trigger misregulation of mesenchymal/ectodermal transcription factors. Birth Defects Res A Clin Mol Teratol. 88(8):619-25.Kooistra, M. K., Leduc, R. Y., Dawe, C. E., Fairbridge, N. A., Rasmussen, J. D., Man, J. H., Bujold, M., Juriloff, D. M., King-Jones, K., and McDermid, H. E. (2011). Strain-specific modifier genes of Cecr2-associated exencephaly in mice: genetic analysis and identification of differentially expressed candidate genes. Physiol Genomics 44, 35-46.

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