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Sunday driver gene headed the wrong way in inherited muscle diseases

Gene encodes protein that regulates formation and maintenance of muscle tissue

2014-03-27
(Press-News.org) Skeletal muscle cells with unevenly spaced nuclei, or nuclei in the wrong location, are telltale signs of such inherited muscle diseases as Emery-Dreifuss muscular dystrophy, which occurs in one out of every 100,000 births, and centronuclear myopathy, which affects one out of every 50,000 infants.

What goes wrong during myogenesis, the formation and maintenance of muscle tissue, to produce these inherited muscle diseases?

Research using the fruit fly Drosophila melanogaster has implicated the gene known as Sunday Driver (Syd) as a novel regulator of myogenesis. The fruit fly studies showed that Syd encodes a protein, the transport adapter Syd, which interacts with cortical factors that enable the motor protein Dynein to pull muscle nuclei into place.

The scientists, who are based at Weill Cornell Graduate School of Medical Sciences and the Sloan Kettering Institute of Memorial Sloan-Kettering Cancer Center, both in New York City, mutated the Syd gene in embryonic and larval muscles of the fruit fly. As a result, the nuclei in the fly's muscle cells were unevenly spaced and clustered.

The scientists also determined that JNK (c-Jun N-terminal kinase) signaling was essential for correct intracellular organization. In the absence of JNK signaling, Syd and Dynein proteins were restricted to the space surrounding the cell nucleus. While overactive JNK signaling allowed the correct transport of Syd and Dynein to the cell cortex at the muscle ends, it prevented their downstream functions that work to pull muscle nuclei into proper position. These defects could be rescued by expression of JIP3 (JNK Interacting Protein 3), the mammalian homolog of Drosophila Syd, suggesting that these cellular activities are conserved from flies to humans and highlighting the utility of Drosophila as a model organism to elucidate key features of human disease.

Most important, during locomotion assays, the larvae with defective Syd protein and abnormally positioned nuclei were weak crawlers, mimicking disease states in humans. While muscle-specific depletion of Syd reduced muscle output, locomotion was rescued by expression of mammalian JIP3, suggesting that muscle cell nuclear position and muscle force generation are functionally linked in muscle disease.

INFORMATION: Abstract:

"Sunday Driver (Syd/JIP3) and JNK Signaling are Required for Myogenesis and Muscle Function." Victoria K. Schulman1,2, Eric S. Folker2, Mary K. Baylies1,2. 1) Weill Cornell Graduate School of Medical Sciences, New York, NY; 2) Sloan-Kettering Institute, New York, NY.

Link: http://abstracts.genetics-gsa.org/cgi-bin/dros14s/showdetail.pl?absno=14531108

ABOUT GSA: Founded in 1931, the Genetics Society of America (GSA) is the professional scientific society for genetics researchers and educators. The Society's more than 5,000 members worldwide work to deepen our understanding of the living world by advancing the field of genetics, from the molecular to the population level. GSA promotes research and fosters communication through a number of GSA-sponsored conferences including regular meetings that focus on particular model organisms. GSA publishes two peer-reviewed, peer-edited scholarly journals: GENETICS, which has published high quality original research across the breadth of the field since 1916, and G3: Genes|Genomes|Genetics, an open-access journal launched in 2011 to disseminate high quality foundational research in genetics and genomics. The society also has a deep commitment to education and fostering the next generation of scholars in the field. For more information about GSA, please visit http://www.genetics-gsa.org. Also follow GSA on Facebook at facebook.com/GeneticsGSA and on Twitter@GeneticsGSA.


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[Press-News.org] Sunday driver gene headed the wrong way in inherited muscle diseases
Gene encodes protein that regulates formation and maintenance of muscle tissue