FRG1

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FSHD region gene 1
Identifiers
Symbol(s) FRG1; FSG1
External IDs OMIM: 601278 MGI: 893597 HomoloGene: 3295
Orthologs
Human Mouse
Entrez 2483 14300
Ensembl n/a ENSMUSG00000031590
Uniprot n/a Q3V3M3
Refseq NM_004477 (mRNA)
NP_004468 (protein)		 NM_013522 (mRNA)
NP_038550 (protein)
Location n/a Chr 8: 42.9 - 42.92 Mb
Pubmed search [1] [2]

FSHD region gene 1, also known as FRG1, is a human gene.[1]

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 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.[1]

[edit] References

  1. ^ a b Entrez Gene: FRG1 FSHD region gene 1.

[edit] Further reading

  • Fisher J, Upadhyaya M (1997). "Molecular genetics of facioscapulohumeral muscular dystrophy (FSHD).". Neuromuscul. Disord. 7 (1): 55–62. PMID 9132141. 
  • van Deutekom JC, Lemmers RJ, Grewal PK, et al. (1997). "Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35.". Hum. Mol. Genet. 5 (5): 581–90. PMID 8733123. 
  • van Geel M, Heather LJ, Lyle R, et al. (1999). "The FSHD region on human chromosome 4q35 contains potential coding regions among pseudogenes and a high density of repeat elements.". Genomics 61 (1): 55–65. doi:10.1006/geno.1999.5942. PMID 10512680. 
  • Jurica MS, Licklider LJ, Gygi SR, et al. (2002). "Purification and characterization of native spliceosomes suitable for three-dimensional structural analysis.". RNA 8 (4): 426–39. PMID 11991638. 
  • Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. doi:10.1073/pnas.242603899. PMID 12477932. 
  • Gevaert K, Goethals M, Martens L, et al. (2004). "Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.". Nat. Biotechnol. 21 (5): 566–9. doi:10.1038/nbt810. PMID 12665801. 
  • van Koningsbruggen S, Dirks RW, Mommaas AM, et al. (2004). "FRG1P is localised in the nucleolus, Cajal bodies, and speckles.". J. Med. Genet. 41 (4): e46. PMID 15060122. 
  • Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMID 15489334. 
  • Andersen JS, Lam YW, Leung AK, et al. (2005). "Nucleolar proteome dynamics.". Nature 433 (7021): 77–83. doi:10.1038/nature03207. PMID 15635413. 
  • Gabellini D, D'Antona G, Moggio M, et al. (2006). "Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1.". Nature 439 (7079): 973–7. doi:10.1038/nature04422. PMID 16341202. 
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