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Annexin A6 modifies muscular dystrophy by mediating sarcolemmal repair

by Vo, Andy H. , Palmer, Abraham A. , Holley-Cuthrell, Jenan , Heydemann, Ahlke , Demonbreun, Alexis R. , Swanson, Kaitlin E. , Eskin, Ascia , Nelson, Stanley F. , Swaggart, Kayleigh A. , Kim, Ellis Y. , McNally, Elizabeth M. , Squire, Kevin , Fahrenbach, John P. , Chen, Zugen

in Abdominal Muscles - pathology / Alternative Splicing - genetics / animal models / Animals / Annexin A6 - genetics / Annexin A6 - metabolism / Annexins / Biological Sciences / Cardiomyopathy / Cell membranes / Chromosomes / Chromosomes, Mammalian - genetics / Disease Susceptibility / Dyes / Dystrophy / exons / Gene mapping / Genes, Modifier / Genetic Variation / Genomes / Genomics / heart / Heart ventricles / Heart Ventricles - pathology / image analysis / Intracellular Space - metabolism / Laser damage / loci / Membranes / Membranes - pathology / Mice / Mice, Inbred C57BL / modifiers (genes) / Muscles / Muscular dystrophies / Muscular dystrophy / Muscular Dystrophy, Animal - genetics / Muscular Dystrophy, Animal - pathology / Mutation / Organ Size / phenotypic variation / Protein Transport / Proteins / Quantitative trait loci / Quantitative Trait Loci - genetics / RNA / Sarcolemma - metabolism / Sarcolemma - pathology / sequence analysis / Sprains and strains / Wound Healing - genetics

2014

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Annexin A6 modifies muscular dystrophy by mediating sarcolemmal repair

2014

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Annexin A6 modifies muscular dystrophy by mediating sarcolemmal repair

2014

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Journal Article

Annexin A6 modifies muscular dystrophy by mediating sarcolemmal repair

Vo, Andy H.,

Palmer, Abraham A.,

Holley-Cuthrell, Jenan,

Heydemann, Ahlke,

Demonbreun, Alexis R.,

Swanson, Kaitlin E.,

Eskin, Ascia,

Nelson, Stanley F.,

Swaggart, Kayleigh A.,

Kim, Ellis Y.,

McNally, Elizabeth M.,

Squire, Kevin,

Fahrenbach, John P.,

Chen, Zugen

2014

Overview

Many monogenic disorders, including the muscular dystrophies, display phenotypic variability despite the same disease-causing mutation. To identify genetic modifiers of muscular dystrophy and its associated cardiomyopathy, we used quantitative trait locus mapping and whole genome sequencing in a mouse model. This approach uncovered a modifier locus on chromosome 11 associated with sarcolemmal membrane damage and heart mass. Whole genome and RNA sequencing identified Anxa6 , encoding annexin A6, as a modifier gene. A synonymous variant in exon 11 creates a cryptic splice donor, resulting in a truncated annexin A6 protein called ANXA6N32. Live cell imaging showed that annexin A6 orchestrates a repair zone and cap at the site of membrane disruption. In contrast, ANXA6N32 dramatically disrupted the annexin A6-rich cap and the associated repair zone, permitting membrane leak. Anxa6 is a modifier of muscular dystrophy and membrane repair after injury.

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Publisher

National Academy of Sciences,National Acad Sciences

Subject

Abdominal Muscles - pathology

/ Alternative Splicing - genetics

/ animal models

/ Animals

/ Annexin A6 - genetics

/ Annexin A6 - metabolism

/ Annexins