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.
Highlights
The Duchenne muscular dystrophy (DMD) gene is one of the largest genes in the human genome, spanning over 2400 kb on the X-chromosome
The DMD gene exhibits a highly complex arrangement of seven alternative promoters, which drive the expression of three full length Dp427 isoforms, Dp427c, Dp427m and Dp427p, and four shorter isoforms, Dp260, Dp140, Dp116 and Dp71 [7]
These findings indicated that the dystrophin‐associated protein complex (DAPC) formed by Dp116 is critical for the growth 5
Summary
The Duchenne muscular dystrophy (DMD) gene is one of the largest genes in the human genome, spanning over 2400 kb on the X-chromosome. The DMD gene exhibits a highly complex arrangement of seven alternative promoters, which drive the expression of three full length Dp427 isoforms, Dp427c, Dp427m and Dp427p, and four shorter isoforms, Dp260, Dp140, Dp116 and Dp71 [7]. The expression of Dp71 is ubiquitous in cells, the expression of other dystrophin isoforms is tissue-specific, with Dp427m expressed in skeletal and cardiac muscles, Dp427c in neurons of the cortex, Dp427p in cerebellar Purkinje neurons, Dp260 in retina, Dp140 in brain and kidney tissues, and Dp116 in Schwann cells [7]. Dp260 deficiency is associated with electroretinogram abnormalities [8,9]; Dp140 is involved in cerebral development and blood flow regulation [10,11]; and Dp71 has multiple physiological roles in cellular processes, including cell adhesion and cell division [12]. Lines indicate represent Duchenne muscular dystrophy exons splicing and the patterns.
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