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Atrx Regulates H3.3 Incorporation And Gene Expression At G-Rich Ancestral Pseudoautosomal Genes, Michael A. Levy
Atrx Regulates H3.3 Incorporation And Gene Expression At G-Rich Ancestral Pseudoautosomal Genes, Michael A. Levy
Electronic Thesis and Dissertation Repository
Mutations in the ATRX gene cause alpha thalassaemia mental retardation, X linked, or can enable cancer progression. ATRX encodes a Swi2/Snf2 chromatin remodeling protein involved in deposition of the histone variant H3.3 at telomeres and pericentromeric heterochromatin. The aim of this study was to determine the role of ATRX in the regulation of gene expression. I identified the ancestral pseudoautosomal region (aPAR) genes as some of the most downregulated genes throughout forebrain development. The PARs are homologous regions located at the ends of the X and Y chromosomes, and are rich in repetitive sequences and GC content. However, mouse PAR …
The Chromatin Remodeling Protein Atrx In Development And Maintenance Of Mouse Skeletal Tissues, Lauren A. Solomon
The Chromatin Remodeling Protein Atrx In Development And Maintenance Of Mouse Skeletal Tissues, Lauren A. Solomon
Electronic Thesis and Dissertation Repository
Alpha-thalassemia X-linked mental retardation (ATR-X) syndrome is a rare genetic disorder associated with severe developmental delay, mental retardation and craniofacial dysmorphism. This syndrome is caused by mutations in the ATRX gene which encodes a member of the SWI/SNF family of chromatin remodeling proteins. ATR-X patients exhibit dwarfism and skeletal defects, including hand and foot deformities. I hypothesized that the skeletal deformities in ATR-X syndrome are due to a direct role of ATRX in the development of the skeleton. My objective was to characterise skeletal phenotypes observed in three animal models conditionally deficient for ATRX in different skeletal tissues. Mice lacking …
Regulation Of Imprinted Genes In The Brain By The Atrx Chromatin Remodeling Protein, Kristin D. Kernohan
Regulation Of Imprinted Genes In The Brain By The Atrx Chromatin Remodeling Protein, Kristin D. Kernohan
Electronic Thesis and Dissertation Repository
Alpha-thalassemia mental retardation, X-linked (ATRX) is a SWI/SNF-like chromatin remodeling protein, enriched at heterochromatic regions of the genome. Disruption of ATRX in humans causes a neurodevelopmental disorder known as ATR‐X Syndrome, and has been linked to paediatric neuronal cancers, suggesting an important role for ATRX in the regulation of chromatin structure in the developing brain. At the outset of this study direct ATRX target genes had not yet been identified. This thesis identifies imprinted genes as targets of ATRX in the developing brain, and explores the mechanism of ATRX regulation at these sites, using the H19/Igf2 imprinted domain as a …