The dystrotelin, dystrophin and dystrobrevin superfamily: new paralogues and old isoforms

Hong, Jiman; Tan, Seang‐Lin; Hermanowski, Jane; Böhm, Sabrina; Pacheco, Sabrina; McCauley, Joanna; Greener, Marc; Hinits, Yaniv; Hughes, Simon M.; Sharpe, Paul T.; Roberts, Roland G.

doi:10.1186/1471-2164-8-19

Cited by 46 publications

(43 citation statements)

References 75 publications

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“…A similar myoseptal localization has been reported for other Integrin-adhesion complex mRNAs in the zebrafish embryo [34–36]. In addition, Dystroglycan complex proteins, also involved in cell-ECM adhesion, show transcript enrichment at the vertical myosepta similar to pxnb [37]. Intriguingly, local accumulation and translation of myosin mRNA has been demonstrated at sites of myoblast adhesion in culture in response to contractile forces [38].…”

Section: Resultssupporting

confidence: 63%

Evolution and Expression of Paxillin Genes in Teleost Fish

2016

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BackgroundPaxillin family proteins regulate intracellular signaling downstream of extracellular matrix adhesion. Tissue expression patterns and cellular functions of Paxillin proteins during embryo development remain poorly understood. Additionally, the evolution of this gene family has not been thoroughly investigated.ResultsThis report characterizes the evolution and expression of a novel Paxillin gene, called Paxillin-b, in Teleosts. Alignments indicate that Teleost Paxillin-a and Paxillin-b proteins are highly homologous to each other and to human Paxillin. Phylogenetic and synteny analyses suggest that these genes originated from the duplication of an ancestral Paxillin gene that was in a common ancestor of Teleosts and Tetrapods. Analysis of the spatiotemporal expression profiles of Paxillin-a and Paxillin-b using zebrafish revealed both overlapping and distinct domains for Paxillin-a and Paxillin-b during embryo development. Localization of zebrafish Paxillin orthologs expressed in mammalian cells demonstrated that both proteins localize to focal adhesions, similar to mammalian Paxillin. This suggests these proteins regulate adhesion-dependent processes in their endogenous tissues.ConclusionPaxillin-a and Paxillin-b were generated by duplication in Teleosts. These genes likely play similar roles as Paxillin genes in other organisms. This work provides a framework for functional investigation of Paxillin family members during development using the zebrafish as an in vivo model system.

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Section: Resultssupporting

confidence: 63%

Evolution and Expression of Paxillin Genes in Teleost Fish

2016

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“…It has been shown that the transcription factor HSF1 is essential to neurogenesis and spinogenesis in the dentate gyrus of the hippocampus and to the development of normal emotional and social behavior (Uchida et al 2011). As one of the most widely expressed isoforms of dystrophin (Jin et al 2007), Dp71 forms the dystrophin-associated protein complex (DAPC) in non-muscle tissues via association with dystroglycans, sarcoglycans, dystrobrevins, syntrophins, and accessory proteins. Mental retardation and retinal dysfunction are the two main phenotypes closely associated with Dp71 involved in DMD.…”

Section: Discussionmentioning

confidence: 99%

HSF1 functions as a transcription regulator for Dp71 expression

Tan

Zheng

et al. 2015

Cell Stress and Chaperones

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Heat shock factor 1 (HSF1) is one of the most important transcriptional molecules in the heat shock process; however, HSF1 can also regulate the expression of other proteins. Dystrophin Dp71 is one of the most widely expressed isoforms of the dystrophin gene family. In our experiments, we showed for the first time that HSF1 can function as a transcriptional factor for endogenous Dp71 expression in vivo and in vitro. We demonstrated that the messenger RNA (mRNA) and protein expression of Dp71 were significantly reduced in HSF1-knockout mice compared with wild-type mice in brain, lung, liver, spleen, and kidney. Overexpression of HSF1 significantly enhanced the mRNA and protein expression of Dp71 in HeLa cells. Inhibiting the expression of HSF1 in HeLa cells significantly reduced the expression of Dp71. By use of the EMSA technique, the chromatin immunoprecipitation assay, and the luciferase reporter system, we demonstrated that HSF1 can directly bind the HSE in the Dp71 promoter region. We concluded from our data that HSF1 functions as a transcriptional regulator of Dp71 expression.

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“…Western blot analysis of mouse trigeminal and sciatic nerves detected doublet bands in the region of 116 kDa [13]. In silico analysis found that additional 14 amino acids in human Dp116 [55]. Therefore, alternative activation of translation initiation codons is highly possible in Dp116 transcripts.…”

Section: Dp118 Produced By Activation Of An Alternative Translation Imentioning

confidence: 97%

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

Matsuo

Awano

Matsumoto

et al. 2017

Genes

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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.

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The dystrotelin, dystrophin and dystrobrevin superfamily: new paralogues and old isoforms

Cited by 46 publications

References 75 publications

Evolution and Expression of Paxillin Genes in Teleost Fish

Evolution and Expression of Paxillin Genes in Teleost Fish

HSF1 functions as a transcription regulator for Dp71 expression

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

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