Dystrophin Dp71: The Smallest but Multifunctional Product of the Duchenne Muscular Dystrophy Gene

摘要: Dystrophin Dp71 is expressed in all tissues, with the exception of skeletal muscle, and main Duchenne muscular dystrophy (DMD) gene product brain. As full-length dystrophin does associates dystroglycans, sarcoglycans, dystrobrevins, syntrophins, accessory proteins to form dystrophin-associated protein complex (DAPC) non-muscle tissues. Although it has been nearly 20 years since discovery Dp71, its study become relevant only recently due direct involvement two DMD non-muscular phenotypes: cognitive impairment abnormal retinal physiology. In this review, we describe historical background experimental models developed for study. Additionally, present discuss evidence supporting participation different cellular processes, including cell adhesion, water homeostasis, division, nuclear architecture. The functional diversity attributed formation Dp71-containing DAPC numerous types subcellular compartments, plasma membrane nucleus, as well capability work scaffold proper clustering anchoring structural signaling envelope inner membrane.