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J Biosci
2017 Jun 01;422:345-353. doi: 10.1007/s12038-017-9681-x.
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Current status and future prospect of FSHD region gene 1.
Hansda AK, Tiwari A, Dixit M.
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FSHD region gene 1 (FRG1), as the name suggests, is the primary candidate gene for fascioscapulohumeral muscular dystrophy disease. It seemingly affects muscle physiology in normal individuals but in FSHD, where it is found to be highly upregulated, might be involved in disruption of face, scapula and humeral skeletal muscle. Literature on FRG1, reviewed from 1996 to 2016, reveals that it is primarily associated with muscle development and maintenance. Approximately 75% of FSHD patients also show vascular abnormalities indicating that FRG1 might have some part to play in these abnormalities. Research involving vasculature in X. laevis larvae shows that FRG1 positively affects normal vasculature. Few of the well-established angiogenic regulators seem to get affected by abnormal expression level of FRG1. Its primary localization in sub nuclear structures like Cajal bodies and nuclear speckles indicates regulation of the above-mentioned factors by transcriptional and post-transcriptional machineries, but in-depth studies need to be done to conclude a clear statement. In this review, we have attempted to present all the work done on FRG1, all the lacunas which need to be unraveled, and hypothesized a model for our readers to get an insight into its molecular mechanism.
Adams,
Roles of fascin in cell adhesion and motility.
2004, Pubmed
Adams,
Roles of fascin in cell adhesion and motility.
2004,
Pubmed Altschul,
Basic local alignment search tool.
1990,
Pubmed Arnould,
The I-CreI meganuclease and its engineered derivatives: applications from cell modification to gene therapy.
2011,
Pubmed Berman,
The Protein Data Bank.
2000,
Pubmed Chen,
Decreased proliferation kinetics of mouse myoblasts overexpressing FRG1.
2011,
Pubmed Chevalier,
Homing endonucleases: structural and functional insight into the catalysts of intron/intein mobility.
2001,
Pubmed Clark,
Analysis of the organisation and localisation of the FSHD-associated tandem array in primates: implications for the origin and evolution of the 3.3 kb repeat family.
1996,
Pubmed Cross,
FGF and VEGF function in angiogenesis: signalling pathways, biological responses and therapeutic inhibition.
2001,
Pubmed Edwards,
Fascins, a family of actin bundling proteins.
1995,
Pubmed
,
Xenbase Feeney,
FHL1 reduces dystrophy in transgenic mice overexpressing FSHD muscular dystrophy region gene 1 (FRG1).
2015,
Pubmed Ferri,
Direct interplay between two candidate genes in FSHD muscular dystrophy.
2015,
Pubmed Flower,
The lipocalin protein family: structure and function.
1996,
Pubmed Gabellini,
Inappropriate gene activation in FSHD: a repressor complex binds a chromosomal repeat deleted in dystrophic muscle.
2002,
Pubmed Gabellini,
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1.
2006,
Pubmed Gabriëls,
Nucleotide sequence of the partially deleted D4Z4 locus in a patient with FSHD identifies a putative gene within each 3.3 kb element.
1999,
Pubmed Geng,
DUX4 activates germline genes, retroelements, and immune mediators: implications for facioscapulohumeral dystrophy.
2012,
Pubmed Grewal,
FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates.
1998,
Pubmed Grewal,
Recent amplification of the human FRG1 gene during primate evolution.
1999,
Pubmed Hanel,
Facioscapulohumeral muscular dystrophy (FSHD) region gene 1 (FRG1) is a dynamic nuclear and sarcomeric protein.
2011,
Pubmed Hanel,
Muscular dystrophy candidate gene FRG1 is critical for muscle development.
2009,
Pubmed
,
Xenbase Kim,
A gene expression map for Caenorhabditis elegans.
2001,
Pubmed Korc,
The role of fibroblast growth factors in tumor growth.
2009,
Pubmed Kureishy,
Fascins, and their roles in cell structure and function.
2002,
Pubmed Lecroisey,
The C. elegans dense body: anchoring and signaling structure of the muscle.
2007,
Pubmed Liu,
Facioscapulohumeral muscular dystrophy region gene-1 (FRG-1) is an actin-bundling protein associated with muscle-attachment sites.
2010,
Pubmed Lunt,
44th ENMC International Workshop: Facioscapulohumeral Muscular Dystrophy: Molecular Studies 19-21 July 1996, Naarden, The Netherlands.
1998,
Pubmed Moerman,
Sarcomere assembly in C. elegans muscle.
2006,
Pubmed Nahabedian,
Bending amplitude - a new quantitative assay of C. elegans locomotion: identification of phenotypes for mutants in genes encoding muscle focal adhesion components.
2012,
Pubmed Neguembor,
FSHD muscular dystrophy region gene 1 binds Suv4-20h1 histone methyltransferase and impairs myogenesis.
2013,
Pubmed
,
Xenbase Olwin,
Role of FGFs in skeletal muscle and limb development.
1994,
Pubmed Ori,
XHas2 activity is required during somitogenesis and precursor cell migration in Xenopus development.
2006,
Pubmed
,
Xenbase Osborne,
Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy.
2007,
Pubmed Padberg,
On the significance of retinal vascular disease and hearing loss in facioscapulohumeral muscular dystrophy.
1995,
Pubmed Rappsilber,
Large-scale proteomic analysis of the human spliceosome.
2002,
Pubmed Sancisi,
Altered Tnnt3 characterizes selective weakness of fast fibers in mice overexpressing FSHD region gene 1 (FRG1).
2014,
Pubmed Sun,
Facioscapulohumeral muscular dystrophy region gene 1 is a dynamic RNA-associated and actin-bundling protein.
2011,
Pubmed
,
Xenbase van Deutekom,
Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35.
1996,
Pubmed van Koningsbruggen,
FRG1P-mediated aggregation of proteins involved in pre-mRNA processing.
2007,
Pubmed van Koningsbruggen,
FRG1P is localised in the nucleolus, Cajal bodies, and speckles.
2004,
Pubmed Wallace,
RNA interference improves myopathic phenotypes in mice over-expressing FSHD region gene 1 (FRG1).
2011,
Pubmed Wuebbles,
FSHD region gene 1 (FRG1) is crucial for angiogenesis linking FRG1 to facioscapulohumeral muscular dystrophy-associated vasculopathy.
2009,
Pubmed
,
Xenbase
