Unknown,Transcriptomics,Genomics,Proteomics

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Genomic profiling of a RYR1-deficient skeletal muscle


ABSTRACT: In differentiated skeletal muscle, intracellular Ca2+ concentrations rise dramatically upon membrane depolarization, constituting the link between excitation and contraction (EC). Transient rises in [Ca2+]i mainly emerge from Ca2+ released by the type 1 ryanodine receptor (RYR1) and, in non-adult muscle, by the inositol 1,4,5-triphosphate receptor (IP3R) of the sarcoplasmic reticulum (SR), the dominant Ca2+ store in skeletal muscle. While the IP3R-mediated, slow Ca2+ transients, have been implicated in cell signaling and development, RYR1’s non-contractile role(s) remain obscure. We used a homozygous mouse RyR1 knockout model (dyspedic) to investigate the effects of the absence of a functional RYR1 and, consequently, the lack of RyR1-mediated Ca2+ signaling during embryogenesis. While heterozygous mice of the model are undistinguishable from WT littermates, homozygous dyspedic mice die at birth from asphyxia, since their skeletal muscle does not support EC coupling. Furthermore, they display abnormal spine curvature, subcutaneous hematomas, small limbs, and enlarged neck. Skeletal muscles from front and hind limbs of dyspedic embryos (day E18.5) were subjected to microarray analyses, revealing 318 genes, significantly regulated by at least 50 % compared to control heterozygous littermates.

INSTRUMENT(S): Maxwell 16 Instrument (Cat. #AS2000, Promega, Madison, WI), Affymetrix Gene-Chip Scanner-3000-7G, Genechip Hybridization Oven-645 (Affymetrix); Geneechip Fluidics Station-450 (Affymetrix)

ORGANISM(S): Mus musculus

SUBMITTER: Dilyana Filipova 

PROVIDER: E-MTAB-3608 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress

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