FRG1

FRG1
Identifiers
AliasesFRG1, FRG1A, FSG1, FSHD region gene 1
External IDsOMIM: 601278; MGI: 893597; GeneCards: FRG1
Available structures
PDBOrtholog search: PDBe RCSB
Orthologs
DatabasesNCBI: entry; OMA: entry
SpeciesHumanMouse
Entrez

2483

14300

Ensembl

ENSG00000275145
ENSG00000283153
ENSG00000109536
ENSG00000283630

ENSMUSG00000031590

UniProt

Q14331

P97376

RefSeq (mRNA)

NM_004477

NM_013522

RefSeq (protein)

NP_004468

NP_038550

Location (UCSC)Chr 4: 189.94 – 189.96 MbChr 8: 41.85 – 41.87 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Protein FRG1 is an actin-bundling protein[5] that in humans is encoded by the FRG1 gene.[6][7]

This gene maps to a location 100 kb centromeric of the repeat units on chromosome 4q35 which are deleted in facioscapulohumeral muscular dystrophy (FSHD). It is evolutionarily conserved[8] and has related sequences on multiple human chromosomes but DNA sequence analysis did not reveal any homology to known genes. In vivo studies demonstrate the encoded protein is localized to the nucleolus.[7] Mice that overexpress FRG1 display facioscapulohumeral muscular dystrophy. Gabellili et al. suggest that human facioscapulohumeral muscular dystrophy results from overexpression of FRG1 in "skeletal muscle, which leads to abnormal alternative splicing of specific pre-mRNAs."[9] This result has been replicated in tadpoles.[10]

References

  1. ^ a b c ENSG00000283153, ENSG00000109536, ENSG00000283630 GRCh38: Ensembl release 89: ENSG00000275145, ENSG00000283153, ENSG00000109536, ENSG00000283630 – Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000031590 – Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Liu, Qian; Jones, Takako Iida; Tang, Vivian W.; Brieher, William M.; Jones, Peter L. (2010-04-01). "Facioscapulohumeral muscular dystrophy region gene-1 (FRG-1) is an actin-bundling protein associated with muscle-attachment sites". Journal of Cell Science. 123 (7): 1116–1123. doi:10.1242/jcs.058958. ISSN 0021-9533. PMC 2844320. PMID 20215405.
  6. ^ van Deutekom JC, Lemmers RJ, Grewal PK, van Geel M, Romberg S, Dauwerse HG, Wright TJ, Padberg GW, Hofker MH, Hewitt JE, Frants RR (Jun 1997). "Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35". Hum Mol Genet. 5 (5): 581–90. doi:10.1093/hmg/5.5.581. PMID 8733123.
  7. ^ a b "Entrez Gene: FRG1 FSHD region gene 1".
  8. ^ Grewal, Prabhjit K.; Carim Todd, Laura; Van Der Maarel, Silvere; Frants, Rune R.; Hewitt, Jane E. (1998-08-17). "FRG1, a gene in the FSH muscular dystrophy region on human chromosome 4q35, is highly conserved in vertebrates and invertebrates". Gene. 216 (1): 13–19. doi:10.1016/S0378-1119(98)00334-5. ISSN 0378-1119. PMID 9714712.
  9. ^ Gabellini, Davide; D'Antona, Giuseppe; Moggio, Maurizio; Prelle, Alessandro; Zecca, Chiara; Adami, Raffaella; Angeletti, Barbara; Ciscato, Patrizia; Pellegrino, Maria Antonietta; Bottinelli, Roberto; Green, Michael R. (February 2006). "Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1". Nature. 439 (7079): 973–977. Bibcode:2006Natur.439..973G. doi:10.1038/nature04422. ISSN 1476-4687. PMID 16341202. S2CID 4427465.
  10. ^ Hanel, Meredith L.; Wuebbles, Ryan D.; Jones, Peter L. (June 2009). "Muscular dystrophy candidate gene FRG1 is critical for muscle development". Developmental Dynamics. 238 (6): 1502–1512. doi:10.1002/dvdy.21830. ISSN 1058-8388. PMC 2964887. PMID 19097195.

Further reading


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