The Role of histone variant macroH2A1 in muscle physiology and pathophysiology

MacroH2A1.1 is one of the least understood histone variants and structural components of chromatin. Generated by alternative splicing, macroH2A1.1 differs from the other macroH2A1 isoform in its capacity to bind NAD+-derived metabolites in vitro. This observation intrigued us to speculate that macro...

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Detalles Bibliográficos
Autor: Posavec, Melanija
Tipo de recurso: tesis doctoral
Estado:Versión publicada
Fecha de publicación:2014
País:España
Institución:CBUC, CESCA
Repositorio:TDR. Tesis Doctorales en Red
OAI Identifier:oai:www.tdx.cat:10803/316789
Acceso en línea:http://hdl.handle.net/10803/316789
Access Level:acceso abierto
Palabra clave:Histones
Nucleosome
Chromatin
macroH2A1.1
macroH2A1.2
Splicing isoforms
Exon
NAD+ metabolismo
Epigenética
Nucleosoma
Variante de histona
Splicing alternativo
Músculo esquelético
Fibras oxidativas
Fibras glucolíticas
Atrofia muscular
616.7
Descripción
Sumario:MacroH2A1.1 is one of the least understood histone variants and structural components of chromatin. Generated by alternative splicing, macroH2A1.1 differs from the other macroH2A1 isoform in its capacity to bind NAD+-derived metabolites in vitro. This observation intrigued us to speculate that macroH2A1.1 could link metabolic and epigenetic regulation. To test the importance of this observation, we turned to skeletal muscle as this tissue is expressing the highest levels of the metabolite-binding isoforms. We demonstrate a switch in macroH2A1 splicing from the metabolite non-binding isoform to macroH2A1.1 during normal myogenic differentiation. We demonstrate that macroH2A1.1 and partly the integrity of its metabolite-binding pocket are important for proper myoblast fusion and myotube maturation. We describe the altered bioenergetic and metabolic phenotype in macroH2A1.1-depleted cells and correlate it to transcriptional alterations of genes. These include genes encoding myosin heavy chain proteins, that are markers of muscle fibers differing in their metabolic function. Correspondingly, we demonstrate a shift in the fiber type composition of skeletal muscles from adult macroH2A1-deficient mice. Therefore, we suggest that macroH2A1.1 is one of the epigenetic factors that define the metabolic responsiveness of muscle relevant for whole body health and metabolic homeostasis. We further venture the speculation that the alterations in skeletal muscles of macroH2A1- deficient mice could contribute to their pre-diabetic phenotype.