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Genes 2017, 8(10), 251; doi:10.3390/genes8100251

Dystrophin Dp116: A yet to Be Investigated Product of the Duchenne Muscular Dystrophy Gene

1
Department of Physical Therapy, Faculty of Rehabilitation, Kobe Gakuin University, Kobe 651-2180, Japan
2
Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan
3
Biomedical Analysis and Pathology Research Group, Discovery Science and Technology Department, Daiichi Sankyo RD Novare Co., Tokyo 134-8630, Japan
4
Department of Community Medicine and Social Healthcare Sciences, Kobe University Graduate School of Medicine, Kobe 650-0017, Japan
*
Author to whom correspondence should be addressed.
Received: 11 August 2017 / Revised: 25 September 2017 / Accepted: 26 September 2017 / Published: 1 October 2017
(This article belongs to the Section Human Genomics and Genetic Diseases)
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Abstract

The Duchenne muscular dystrophy (DMD) gene is one of the largest genes in the human genome. The gene exhibits a complex arrangement of seven alternative promoters, which drive the expression of three full length and four shorter isoforms. Dp116, the second smallest product of the DMD gene, is a Schwann cell-specific isoform encoded by a transcript corresponding to DMD exons 56–79, starting from a promoter/exon S1 within intron 55. The physiological roles of Dp116 are poorly understood, because of its extensive homology with other isoforms and its expression in specific tissues. This review summarizes studies on Dp116, focusing on clinical findings and alternative activation of the upstream translation initiation codon that is predicted to produce Dp118. View Full-Text
Keywords: dystrophin; isoform; Dp116; Dp118; Duchenne muscular dystrophy; Schwann cell dystrophin; isoform; Dp116; Dp118; Duchenne muscular dystrophy; Schwann cell
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Matsuo, M.; Awano, H.; Matsumoto, M.; Nagai, M.; Kawaguchi, T.; Zhang, Z.; Nishio, H. Dystrophin Dp116: A yet to Be Investigated Product of the Duchenne Muscular Dystrophy Gene. Genes 2017, 8, 251.

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