FMR1
出典: フリー百科事典『ウィキペディア（Wikipedia）』 (2021/01/24 01:19 UTC 版)
FMR1（fragile X mental retardation 1）は、FMRP（fragile X mental retardation protein）と呼ばれるタンパク質をコードするヒトの遺伝子である[5][6]。FMRPは脳に最も一般的に存在し、正常な認知発達と女性の生殖機能に必要不可欠である。この遺伝子の変異は脆弱X症候群、知的障害、早発卵巣不全、自閉症、パーキンソン病、発達遅滞や他の認知障害を引き起こす[7]。FMR1の前変異（premutation）と関係した広範囲にわたる臨床表現型は、世界中で200万人以上に影響を与えている[8]。
- ^ a b c GRCh38: Ensembl release 89: ENSG00000102081 - Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000000838 - Ensembl, May 2017
- ^ Human PubMed Reference:
- ^ Mouse PubMed Reference:
- ^ “Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome”. Cell 65 (5): 905–14. (May 1991). doi:10.1016/0092-8674(91)90397-H. PMID 1710175.
- ^ “Characterization and localization of the FMR-1 gene product associated with fragile X syndrome”. Nature 363 (6431): 722–4. (June 1993). doi:10.1038/363722a0. PMID 8515814.
- ^ "Fragile X Mental Retardation" The Human Gene Compendium
- ^ “FMR1 Premutation: Basic Mechanisms and Clinical Involvement”. Cerebellum 15 (5): 543–5. (October 2016). doi:10.1007/s12311-016-0808-7. PMID 27338822.
- ^ a b “Localization of FMRP-associated mRNA granules and requirement of microtubules for activity-dependent trafficking in hippocampal neurons”. Genes, Brain, and Behavior 4 (6): 350–9. (August 2005). doi:10.1111/j.1601-183X.2005.00128.x. PMID 16098134.
- ^ “Altered synaptic plasticity in a mouse model of fragile X mental retardation”. Proceedings of the National Academy of Sciences of the United States of America 99 (11): 7746–50. (May 2002). doi:10.1073/pnas.122205699. PMC: 124340. PMID 12032354.
- ^ “Metabotropic glutamate receptors trigger postsynaptic protein synthesis”. Proceedings of the National Academy of Sciences of the United States of America 90 (15): 7168–71. (August 1993). doi:10.1073/pnas.90.15.7168. PMC: 47097. PMID 8102206.
- ^ “Dendritic spines elongate after stimulation of group 1 metabotropic glutamate receptors in cultured hippocampal neurons”. Proceedings of the National Academy of Sciences of the United States of America 99 (3): 1639–44. (February 2002). doi:10.1073/pnas.032681099. PMC: 122243. PMID 11818568.
- ^ a b “Fragile X mental retardation protein is translated near synapses in response to neurotransmitter activation”. Proceedings of the National Academy of Sciences of the United States of America 94 (10): 5395–400. (May 1997). doi:10.1073/pnas.94.10.5395. PMC: 24689. PMID 9144248.
- ^ “Local functions for FMRP in axon growth cone motility and activity-dependent regulation of filopodia and spine synapses”. Molecular and Cellular Neurosciences 32 (1–2): 37–48. (2006). doi:10.1016/j.mcn.2006.02.001. PMID 16631377.
- ^ “Purified recombinant Fmrp exhibits selective RNA binding as an intrinsic property of the fragile X mental retardation protein”. The Journal of Biological Chemistry 273 (25): 15521–7. (June 1998). doi:10.1074/jbc.273.25.15521. PMID 9624140.
- ^ “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”. Cell 77 (1): 33–9. (April 1994). doi:10.1016/0092-8674(94)90232-1. PMID 8156595.
- ^ “Evidence that fragile X mental retardation protein is a negative regulator of translation”. Human Molecular Genetics 10 (4): 329–38. (February 2001). doi:10.1093/hmg/10.4.329. PMID 11157796.
- ^ a b “Dynamic translational and proteasomal regulation of fragile X mental retardation protein controls mGluR-dependent long-term depression”. Neuron 51 (4): 441–54. (August 2006). doi:10.1016/j.neuron.2006.07.005. PMID 16908410.
- ^ a b “The fragile X syndrome protein represses activity-dependent translation through CYFIP1, a new 4E-BP”. Cell 134 (6): 1042–54. (September 2008). doi:10.1016/j.cell.2008.07.031. PMID 18805096.
- ^ “Dysregulated metabotropic glutamate receptor-dependent translation of AMPA receptor and postsynaptic density-95 mRNAs at synapses in a mouse model of fragile X syndrome”. The Journal of Neuroscience 27 (20): 5338–48. (May 2007). doi:10.1523/JNEUROSCI.0937-07.2007. PMID 17507556.
- ^ “The fragile X syndrome protein FMRP associates with BC1 RNA and regulates the translation of specific mRNAs at synapses”. Cell 112 (3): 317–27. (February 2003). doi:10.1016/S0092-8674(03)00079-5. PMID 12581522.
- ^ “Fragile X protein controls the efficacy of mRNA transport in Drosophila neurons”. Molecular and Cellular Neurosciences 39 (2): 170–9. (October 2008). doi:10.1016/j.mcn.2008.06.012. PMID 18655836.
- ^ “Technical Standards and Guidelines for Fragile X”. American College of Medical Genetics (2000年10月2日). 2013年3月29日閲覧。
- ^ “Sequencing the unsequenceable: expanded CGG-repeat alleles of the fragile X gene”. Genome Research 23 (1): 121–8. (January 2013). doi:10.1101/gr.141705.112. PMC: 3530672. PMID 23064752.
- ^ “Repeat instability during DNA repair: Insights from model systems”. Crit. Rev. Biochem. Mol. Biol. 50 (2): 142–67. (2015). doi:10.3109/10409238.2014.999192. PMC: 4454471. PMID 25608779.
- ^ a b “A chromatin-dependent role of the fragile X mental retardation protein FMRP in the DNA damage response”. Cell 157 (4): 869–81. (May 2014). doi:10.1016/j.cell.2014.03.040. PMC: 4038154. PMID 24813610.
- ^ “The Fragile X Protein and Genome Function”. Mol. Neurobiol. 56 (1): 711–721. (May 2018). doi:10.1007/s12035-018-1122-9. PMID 29796988.
- ^ a b Garber, Kathryn B.; Visootsak, Jeannie; Warren, Stephen T. (2008-06). “Fragile X syndrome”. European journal of human genetics: EJHG 16 (6): 666–672. doi:10.1038/ejhg.2008.61. ISSN 1018-4813. PMC: 4369150. PMID 18398441.
- ^ Bailey, Donald B.; Raspa, Melissa; Olmsted, Murrey; Holiday, David B. (2008-08-15). “Co-occurring conditions associated with FMR1 gene variations: findings from a national parent survey”. American Journal of Medical Genetics. Part A 146A (16): 2060–2069. doi:10.1002/ajmg.a.32439. ISSN 1552-4833. PMID 18570292.
- ^ Hagerman, Randi; Hagerman, Paul (2013-08). “Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome”. The Lancet. Neurology 12 (8): 786–798. doi:10.1016/S1474-4422(13)70125-X. ISSN 1474-4465. PMC: 3922535. PMID 23867198.
- ^ “The FMR1 gene as regulator of ovarian recruitment and ovarian reserve”. Obstetrical & Gynecological Survey 65 (8): 523–30. (August 2010). doi:10.1097/OGX.0b013e3181f8bdda. PMID 20955631.
- ^ “CGG repeat sizing in the FMR1 gene in Indian women with premature ovarian failure”. Reproductive Biomedicine Online 19 (2): 281–6. (August 2009). doi:10.1016/s1472-6483(10)60086-7. PMID 19712568.
- ^ “Intermediate and premutation FMR1 alleles in women with occult primary ovarian insufficiency”. Fertility and Sterility 92 (2): 464–70. (August 2009). doi:10.1016/j.fertnstert.2008.07.007. PMID 18973899.
- ^ Gleicher, Norbert; Weghofer, Andrea; Lee, Irene H.; Barad, David H. (2010-12-16). “FMR1 genotype with autoimmunity-associated polycystic ovary-like phenotype and decreased pregnancy chance”. PloS One 5 (12): e15303. doi:10.1371/journal.pone.0015303. ISSN 1932-6203. PMC: 3002956. PMID 21179569.
- ^ a b “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”. Proceedings of the National Academy of Sciences of the United States of America 98 (15): 8844–9. (July 2001). doi:10.1073/pnas.151231598. PMC: 37523. PMID 11438699.
- ^ a b c “82-FIP, a novel FMRP (fragile X mental retardation protein) interacting protein, shows a cell cycle-dependent intracellular localization”. Human Molecular Genetics 12 (14): 1689–98. (July 2003). doi:10.1093/hmg/ddg181. PMID 12837692.
- ^ a b “Specific sequences in the fragile X syndrome protein FMR1 and the FXR proteins mediate their binding to 60S ribosomal subunits and the interactions among them”. Molecular and Cellular Biology 16 (7): 3825–32. (July 1996). doi:10.1128/mcb.16.7.3825. PMC: 231379. PMID 8668200.
- ^ a b “The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2”. The EMBO Journal 14 (21): 5358–66. (November 1995). doi:10.1002/j.1460-2075.1995.tb00220.x. PMC: 394645. PMID 7489725.
- ^ “Isolation of an FMRP-associated messenger ribonucleoprotein particle and identification of nucleolin and the fragile X-related proteins as components of the complex”. Molecular and Cellular Biology 19 (12): 7925–32. (December 1999). doi:10.1128/mcb.19.12.7925. PMC: 84877. PMID 10567518.
- ^ “A novel RNA-binding nuclear protein that interacts with the fragile X mental retardation (FMR1) protein”. Human Molecular Genetics 8 (13): 2557–66. (December 1999). doi:10.1093/hmg/8.13.2557. PMID 10556305.
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