Gene Review:
FMR1 - fragile X mental retardation 1
Homo sapiens
Synonyms:
FMRP, FRAXA, Fragile X mental retardation protein 1, MGC87458, POF, ...
Zhong,
Ju,
Nelson,
Dobkin,
Brown,
Loesch,
Huggins,
Hagerman,
Bardoni,
Castets,
Huot,
Schenck,
Adinolfi,
Corbin,
Pastore,
Khandjian,
Mandel,
Menon,
Gibson,
Pastore,
Menon,
Leroux,
White,
Reiss,
Hagerman,
Leavitt,
Farzin,
Jacquemont,
Greco,
Brunberg,
Tassone,
Hessl,
Harris,
Zhang,
Jardini,
Gane,
Ferranti,
Ruiz,
Leehey,
Grigsby,
Hagerman,
Tassone,
Beilina,
Carosi,
Albertosi,
Bagni,
Li,
Glover,
Bentley,
Hagerman,
Bardoni,
Schenck,
Mandel,
- Intragenic loss of function mutations demonstrate the primary role of FMR1 in fragile X syndrome. Lugenbeel, K.A., Peier, A.M., Carson, N.L., Chudley, A.E., Nelson, D.L. Nat. Genet. (1995)
- Fragile-X syndrome and myotonic dystrophy: parallels and paradoxes. Tapscott, S.J., Klesert, T.R., Widrow, R.J., Stöger, R., Laird, C.D. Curr. Opin. Genet. Dev. (1998)
- Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Hagerman, R.J., Leavitt, B.R., Farzin, F., Jacquemont, S., Greco, C.M., Brunberg, J.A., Tassone, F., Hessl, D., Harris, S.W., Zhang, L., Jardini, T., Gane, L.W., Ferranti, J., Ruiz, L., Leehey, M.A., Grigsby, J., Hagerman, P.J. Am. J. Hum. Genet. (2004)
- Comparative frequency of fragile-X (FMR1) and creatine transporter (SLC6A8) mutations in X-linked mental retardation. Mandel, J.L. Am. J. Hum. Genet. (2004)
- Clonal determination by the fragile X (FMR1) and phosphoglycerate kinase (PGK) genes in hematological malignancies. Lee, S.T., McGlennen, R.C., Litz, C.E. Cancer Res. (1994)
- Essential role for KH domains in RNA binding: impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome. Siomi, H., Choi, M., Siomi, M.C., Nussbaum, R.L., Dreyfuss, G. Cell (1994)
- Frontostriatal deficits in fragile X syndrome: relation to FMR1 gene expression. Menon, V., Leroux, J., White, C.D., Reiss, A.L. Proc. Natl. Acad. Sci. U.S.A. (2004)
- Fragile X mental retardation protein levels increase following complex environment exposure in rat brain regions undergoing active synaptogenesis. Irwin, S.A., Christmon, C.A., Grossman, A.W., Galvez, R., Kim, S.H., DeGrush, B.J., Weiler, I.J., Greenough, W.T. Neurobiology of learning and memory. (2005)
- NF-Y, AP2, Nrf1 and Sp1 regulate the fragile X-related gene 2 (FXR2). Mahishi, L., Usdin, K. Biochem. J. (2006)
- Phenotypic variation and FMRP levels in fragile X. Loesch, D.Z., Huggins, R.M., Hagerman, R.J. Mental retardation and developmental disabilities research reviews. (2004)
- Drosophila fragile X-related gene regulates the MAP1B homolog Futsch to control synaptic structure and function. Zhang, Y.Q., Bailey, A.M., Matthies, H.J., Renden, R.B., Smith, M.A., Speese, S.D., Rubin, G.M., Broadie, K. Cell (2001)
- Fragile X mental retardation protein targets G quartet mRNAs important for neuronal function. Darnell, J.C., Jensen, K.B., Jin, P., Brown, V., Warren, S.T., Darnell, R.B. Cell (2001)
- Characterization of the full fragile X syndrome mutation in fetal gametes. Malter, H.E., Iber, J.C., Willemsen, R., de Graaff, E., Tarleton, J.C., Leisti, J., Warren, S.T., Oostra, B.A. Nat. Genet. (1997)
- A point mutation in the FMR-1 gene associated with fragile X mental retardation. De Boulle, K., Verkerk, A.J., Reyniers, E., Vits, L., Hendrickx, J., Van Roy, B., Van den Bos, F., de Graaff, E., Oostra, B.A., Willems, P.J. Nat. Genet. (1993)
- Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease? Hedrich, K., Pramstaller, P.P., Stübke, K., Hiller, A., Kabakci, K., Purmann, S., Kasten, M., Scaglione, C., Schwinger, E., Volkmann, J., Kostic, V., Vieregge, P., Martinelli, P., Abbruzzese, G., Klein, C., Zühlke, C. Mov. Disord. (2005)
- Fragile X Mental Retardation protein determinants required for its association with polyribosomal mRNPs. Mazroui, R., Huot, M.E., Tremblay, S., Boilard, N., Labelle, Y., Khandjian, E.W. Hum. Mol. Genet. (2003)
- Molecular cloning of spermidine/spermine N1-acetyltransferase from the periimplantation porcine uterus by messenger ribonucleic acid differential display: temporal and conceptus-modulated gene expression. Green, M.L., Blaeser, L.L., Simmen, F.A., Simmen, R.C. Endocrinology (1996)
- Molecular basis and diagnosis of neurogenetic disorders. Müller, U., Graeber, M.B., Haberhausen, G., Köhler, A. J. Neurol. Sci. (1994)
- Deletion of all CGG repeats plus flanking sequences in FMR1 does not abolish gene expression. Grønskov, K., Hjalgrim, H., Bjerager, M.O., Brøndum-Nielsen, K. Am. J. Hum. Genet. (1997)
- A Drosophila fragile X protein interacts with components of RNAi and ribosomal proteins. Ishizuka, A., Siomi, M.C., Siomi, H. Genes Dev. (2002)
- A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein. Bardoni, B., Schenck, A., Mandel, J.L. Hum. Mol. Genet. (1999)
- Highly conserved 3' UTR and expression pattern of FXR1 points to a divergent gene regulation of FXR1 and FMR1. Coy, J.F., Sedlacek, Z., Bächner, D., Hameister, H., Joos, S., Lichter, P., Delius, H., Poustka, A. Hum. Mol. Genet. (1995)
- Occupancy and synergistic activation of the FMR1 promoter by Nrf-1 and Sp1 in vivo. Smith, K.T., Coffee, B., Reines, D. Hum. Mol. Genet. (2004)
- High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome. Hornstra, I.K., Nelson, D.L., Warren, S.T., Yang, T.P. Hum. Mol. Genet. (1993)
- Elevated FMR1 mRNA in premutation carriers is due to increased transcription. Tassone, F., Beilina, A., Carosi, C., Albertosi, S., Bagni, C., Li, L., Glover, K., Bentley, D., Hagerman, P.J. RNA (2007)
- Transcription, translation and fragile X syndrome. Garber, K., Smith, K.T., Reines, D., Warren, S.T. Curr. Opin. Genet. Dev. (2006)
- The fragile X syndrome d(CGG)n nucleotide repeats form a stable tetrahelical structure. Fry, M., Loeb, L.A. Proc. Natl. Acad. Sci. U.S.A. (1994)
- The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals. Eberhart, D.E., Malter, H.E., Feng, Y., Warren, S.T. Hum. Mol. Genet. (1996)
- The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2. Zhang, Y., O'Connor, J.P., Siomi, M.C., Srinivasan, S., Dutra, A., Nussbaum, R.L., Dreyfuss, G. EMBO J. (1995)
- Rapid protein sequencing by tandem mass spectrometry and cDNA cloning of p20-CGGBP. A novel protein that binds to the unstable triplet repeat 5'-d(CGG)n-3' in the human FMR1 gene. Deissler, H., Wilm, M., Genç, B., Schmitz, B., Ternes, T., Naumann, F., Mann, M., Doerfler, W. J. Biol. Chem. (1997)
- The C terminus of fragile X mental retardation protein interacts with the multi-domain Ran-binding protein in the microtubule-organising centre. Menon, R.P., Gibson, T.J., Pastore, A. J. Mol. Biol. (2004)
- 82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization. Bardoni, B., Castets, M., Huot, M.E., Schenck, A., Adinolfi, S., Corbin, F., Pastore, A., Khandjian, E.W., Mandel, J.L. Hum. Mol. Genet. (2003)
- Fragile X mental retardation protein (FMRP) binds specifically to the brain cytoplasmic RNAs BC1/BC200 via a novel RNA-binding motif. Zalfa, F., Adinolfi, S., Napoli, I., Kühn-Hölsken, E., Urlaub, H., Achsel, T., Pastore, A., Bagni, C. J. Biol. Chem. (2005)
- Evidence that fragile X mental retardation protein is a negative regulator of translation. Laggerbauer, B., Ostareck, D., Keidel, E.M., Ostareck-Lederer, A., Fischer, U. Hum. Mol. Genet. (2001)
- AP-2alpha selectively regulates fragile X mental retardation-1 gene transcription during embryonic development. Lim, J.H., Booker, A.B., Luo, T., Williams, T., Furuta, Y., Lagutin, O., Oliver, G., Sargent, T.D., Fallon, J.R. Hum. Mol. Genet. (2005)
- Reduced mRNA for G3BP in fragile X cells: evidence of FMR1 gene regulation. Zhong, N., Ju, W., Nelson, D., Dobkin, C., Brown, W.T. Am. J. Med. Genet. (1999)
- Loss of FMR1 hypermethylation in somatic cell heterokaryons. Stoyanova, V., Rossetti, S., VAN Unen, L., Oostra, B.A., Hoogeveen, A.T. FASEB J. (2004)
- Gene structure and expression of the 5'-(CGG)(n)-3'-binding protein (CGGBP1). Naumann, F., Remus, R., Schmitz, B., Doerfler, W. Genomics (2004)
- A highly conserved protein family interacting with the fragile X mental retardation protein (FMRP) and displaying selective interactions with FMRP-related proteins FXR1P and FXR2P. Schenck, A., Bardoni, B., Moro, A., Bagni, C., Mandel, J.L. Proc. Natl. Acad. Sci. U.S.A. (2001)
- High prevalence of SLC6A8 deficiency in X-linked mental retardation. Rosenberg, E.H., Almeida, L.S., Kleefstra, T., deGrauw, R.S., Yntema, H.G., Bahi, N., Moraine, C., Ropers, H.H., Fryns, J.P., deGrauw, T.J., Jakobs, C., Salomons, G.S. Am. J. Hum. Genet. (2004)
- The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins. Tamanini, F., Kirkpatrick, L.L., Schonkeren, J., van Unen, L., Bontekoe, C., Bakker, C., Nelson, D.L., Galjaard, H., Oostra, B.A., Hoogeveen, A.T. Hum. Mol. Genet. (2000)
- Involvement of the X chromosome in non-Hodgkin lymphoma. McDonald, H.L., Gascoyne, R.D., Horsman, D., Brown, C.J. Genes Chromosomes Cancer (2000)
- Two new cases of FMR1 deletion associated with mental impairment. Hirst, M., Grewal, P., Flannery, A., Slatter, R., Maher, E., Barton, D., Fryns, J.P., Davies, K. Am. J. Hum. Genet. (1995)
- Alternative splicing in the fragile X gene FMR1. Verkerk, A.J., de Graaff, E., De Boulle, K., Eichler, E.E., Konecki, D.S., Reyniers, E., Manca, A., Poustka, A., Willems, P.J., Nelson, D.L. Hum. Mol. Genet. (1993)