Fukutin is a eukaryotic protein necessary for the maintenance of muscle integrity, corticalhistogenesis, and normal ocular development. Mutations in the fukutin gene have been shown to result in Fukuyama congenital muscular dystrophy (FCMD) characterised by brain malformation - one of the most common autosomal-recessive disorders in Japan.[5] In humans this protein is encoded by the FCMDgene (also named FKTN), located on chromosome9q31.[6][7][8] Human fukutin exhibits a length of 461 amino acids and a predicted molecular mass of 53.7 kDa.
Although its function is mostly unknown, fukutin is a putative transmembrane protein that is ubiquitously expressed, although at higher levels in skeletal muscle, heart and brain.[9] It is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of α-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development.[7] Fukutin is expressed in the mammalian retina and is located in the Golgi complex of retinal neurons.[10]
^ abcGRCh38: Ensembl release 89: ENSG00000106692 - Ensembl, May 2017
^ abcGRCm38: Ensembl release 89: ENSMUSG00000028414 - Ensembl, May 2017
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Kobayashi K, Shimizu T, Arai K, Nakamura Y, Fukui T, Toda T, Matsumura K, Imamura M, Takeda S, Kondo M, Sasaki J, Kurahashi H, Kano H, Misaki K, Tachikawa M, Murakami T, Sunada Y, Fujikado T, Terashima T (2003). "Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development". Hum. Mol. Genet. 12 (12): 1449–1459. doi:10.1093/hmg/ddg153. PMID 12783852.
^Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T, Sakai M, Tomita I, Origuchi Y, Suzuki M (November 1993). "Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33". Nat. Genet. 5 (3): 283–6. doi:10.1038/ng1193-283. PMID 8275093. S2CID 21435748.
^Hayashi YK, Ogawa M, Tagawa K, Noguchi S, Ishihara T, Nonaka I, Arahata K (July 2001). "Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy". Neurology. 57 (1): 115–21. doi:10.1212/wnl.57.1.115. PMID 11445638. S2CID 86733816.
^Haro, C., Uribe, M.L., Quereda, C., Cruces, J. and Martín-Nieto, J. (2018) Expression in retinal neurons of fukutin and FKRP, the protein products of two dystroglycanopathy-causative genes. Molecular Vision 24, 43-58.
^Murakami T, Hayashi YK, Noguchi S, et al. (November 2006). "Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness". Ann. Neurol. 60 (5): 597–602. CiteSeerX10.1.1.515.1578. doi:10.1002/ana.20973. PMID 17036286.
Further reading
Matsumoto H, Noguchi S, Sugie K, et al. (2004). "Subcellular localization of fukutin and fukutin-related protein in muscle cells". J. Biochem. 135 (6): 709–12. doi:10.1093/jb/mvh086. PMID 15213246.
Puckett RL, Moore SA, Winder TL, et al. (2009). "Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation". Neuromuscul. Disord. 19 (5): 352–6. doi:10.1016/j.nmd.2009.03.001. PMC2698593. PMID 19342235.
Chung W, Winder TL, LeDuc CA, et al. (2009). "Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families". Prenat. Diagn. 29 (6): 560–9. doi:10.1002/pd.2238. PMC2735827. PMID 19266496.
Percival JM, Froehner SC (2007). "Golgi complex organization in skeletal muscle: a role for Golgi-mediated glycosylation in muscular dystrophies?". Traffic. 8 (3): 184–94. doi:10.1111/j.1600-0854.2006.00523.x. PMID 17319799. S2CID 20568065.
Toda T (1999). "[Fukutin, a novel protein product responsible for Fukuyama-type congenital muscular dystrophy]". Seikagaku. 71 (1): 55–61. PMID 10067123.
Toda T, Kobayashi K, Kondo-Iida E, et al. (2000). "The Fukuyama congenital muscular dystrophy story". Neuromuscul. Disord. 10 (3): 153–9. doi:10.1016/S0960-8966(99)00109-1. PMID 10734260. S2CID 20382548.
Kimura K, Wakamatsu A, Suzuki Y, et al. (2006). "Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes". Genome Res. 16 (1): 55–65. doi:10.1101/gr.4039406. PMC1356129. PMID 16344560.
Cotarelo RP, Valero MC, Prados B, et al. (2008). "Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome". Clin. Genet. 73 (2): 139–45. doi:10.1111/j.1399-0004.2007.00936.x. hdl:10261/81951. PMID 18177472. S2CID 21991461.
Vuillaumier-Barrot S, Quijano-Roy S, Bouchet-Seraphin C, et al. (2009). "Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype". Neuromuscul. Disord. 19 (3): 182–8. doi:10.1016/j.nmd.2008.12.005. PMID 19179078. S2CID 207264089.
Yamamoto T, Kawaguchi M, Sakayori N, et al. (2006). "Intracellular binding of fukutin and alpha-dystroglycan: relation to glycosylation of alpha-dystroglycan". Neurosci. Res. 56 (4): 391–9. doi:10.1016/j.neures.2006.08.009. PMID 17005282. S2CID 53172961.
Yoshioka M (2009). "Phenotypic spectrum of Fukutinopathy: most severe phenotype of Fukutinopathy". Brain Dev. 31 (6): 419–22. doi:10.1016/j.braindev.2008.07.012. PMID 18834683. S2CID 6864803.
Manzini MC, Gleason D, Chang BS, et al. (2008). "Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East". Hum. Mutat. 29 (11): E231–41. doi:10.1002/humu.20844. PMC2577713. PMID 18752264.
Perry JR, Stolk L, Franceschini N, et al. (2009). "Meta-analysis of genome-wide association data identifies two loci influencing age at menarche". Nat. Genet. 41 (6): 648–650. doi:10.1038/ng.386. PMC2942986. PMID 19448620.
Godfrey C, Escolar D, Brockington M, et al. (2006). "Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy". Ann. Neurol. 60 (5): 603–10. doi:10.1002/ana.21006. PMID 17044012.
Godfrey C, Clement E, Mein R, et al. (2007). "Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan". Brain. 130 (Pt 10): 2725–35. doi:10.1093/brain/awm212. PMID 17878207.
Saredi S, Ruggieri A, Mottarelli E, et al. (2009). "Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement". Muscle Nerve. 39 (6): 845–8. doi:10.1002/mus.21271. PMID 19396839. S2CID 32373751.
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. PMC528928. PMID 15489334.
Mercuri E, Messina S, Bruno C, et al. (2009). "Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study". Neurology. 72 (21): 1802–9. doi:10.1212/01.wnl.0000346518.68110.60. PMID 19299310. S2CID 9429271.
Arimura T, Hayashi YK, Murakami T, et al. (2009). "Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy". Circ. J. 73 (1): 158–61. doi:10.1253/circj.CJ-08-0722. PMID 19015585.
External links
GeneReviews/NCBI/NIH/UW entry on Congenital Muscular Dystrophy Overview
fukutin, eukaryotic, protein, necessary, maintenance, muscle, integrity, cortical, histogenesis, normal, ocular, development, mutations, fukutin, gene, have, been, shown, result, fukuyama, congenital, muscular, dystrophy, fcmd, characterised, brain, malformati. Fukutin is a eukaryotic protein necessary for the maintenance of muscle integrity cortical histogenesis and normal ocular development Mutations in the fukutin gene have been shown to result in Fukuyama congenital muscular dystrophy FCMD characterised by brain malformation one of the most common autosomal recessive disorders in Japan 5 In humans this protein is encoded by the FCMD gene also named FKTN located on chromosome 9q31 6 7 8 Human fukutin exhibits a length of 461 amino acids and a predicted molecular mass of 53 7 kDa FKTNIdentifiersAliasesFKTN CMD1X FCMD LGMD2M MDDGA4 MDDGB4 MDDGC4 fukutin LGMDR13External IDsOMIM 607440 MGI 2179507 HomoloGene 31402 GeneCards FKTNGene location Human Chr Chromosome 9 human 1 Band9q31 2Start105 558 122 bp 1 End105 653 820 bp 1 Gene location Mouse Chr Chromosome 4 mouse 2 Band4 B2 4 28 74 cMStart53 713 998 bp 2 End53 777 890 bp 2 RNA expression patternBgeeHumanMouse ortholog Top expressed inAchilles tendongerminal epitheliumRegion I of hippocampus properstromal cell of endometriumbody of pancreascorpus callosumrectumganglionic eminencesural nerveislet of LangerhansTop expressed inseminal vesiculainterventricular septumtrigeminal ganglionolfactory epitheliumspermatocytesubstantia nigraanterior horn of spinal cordnucleus accumbensseminiferous tubulemyocardium of ventricleMore reference expression dataBioGPSn aGene ontologyMolecular functiontransferase activity protein bindingCellular componentintegral component of membrane Golgi membrane cis Golgi network Golgi apparatus endoplasmic reticulum nucleus membrane extracellular space integral component of Golgi membrane cytoplasmBiological processnegative regulation of JNK cascade protein glycosylation muscle organ development protein O linked mannosylation regulation of protein glycosylation nervous system development negative regulation of cell population proliferation protein O linked glycosylationSources Amigo QuickGOOrthologsSpeciesHumanMouseEntrez2218246179EnsemblENSG00000106692ENSMUSG00000028414UniProtO75072Q8R507RefSeq mRNA NM 001079802NM 001198963NM 006731NM 001351496NM 001351497NM 001351498NM 001351499NM 001351500NM 001351501NM 001351502NM 139309NM 001363126NM 001363127NM 001363128RefSeq protein NP 001073270NP 001185892NP 006722NP 001338425NP 001338426NP 001338427NP 001338428NP 001338429NP 001338430NP 001338431NP 647470NP 001350055NP 001350056NP 001350057Location UCSC Chr 9 105 56 105 65 MbChr 4 53 71 53 78 MbPubMed search 3 4 WikidataView Edit HumanView Edit MouseFukutin relatedIdentifiersSymbolFukutin relatedPfamPF04991InterProIPR009644Available protein structures Pfam structures ECOD PDBRCSB PDB PDBe PDBjPDBsumstructure summary Contents 1 Function 2 Clinical significance 3 See also 4 References 5 Further reading 6 External linksFunction EditAlthough its function is mostly unknown fukutin is a putative transmembrane protein that is ubiquitously expressed although at higher levels in skeletal muscle heart and brain 9 It is localized to the cis Golgi compartment where it may be involved in the glycosylation of a dystroglycan in skeletal muscle The encoded protein is thought to be a glycosyltransferase and could play a role in brain development 7 Fukutin is expressed in the mammalian retina and is located in the Golgi complex of retinal neurons 10 Clinical significance EditDefects in this gene are a cause of Fukuyama congenital muscular dystrophy FCMD Walker Warburg syndrome WWS limb girdle muscular dystrophy type 2M LGMD2M and dilated cardiomyopathy type 1X CMD1X 7 11 See also EditFukutin related proteinReferences Edit a b c GRCh38 Ensembl release 89 ENSG00000106692 Ensembl May 2017 a b c GRCm38 Ensembl release 89 ENSMUSG00000028414 Ensembl May 2017 Human PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Mouse PubMed Reference National Center for Biotechnology Information U S National Library of Medicine Kobayashi K Shimizu T Arai K Nakamura Y Fukui T Toda T Matsumura K Imamura M Takeda S Kondo M Sasaki J Kurahashi H Kano H Misaki K Tachikawa M Murakami T Sunada Y Fujikado T Terashima T 2003 Fukutin is required for maintenance of muscle integrity cortical histiogenesis and normal eye development Hum Mol Genet 12 12 1449 1459 doi 10 1093 hmg ddg153 PMID 12783852 Toda T Segawa M Nomura Y Nonaka I Masuda K Ishihara T Sakai M Tomita I Origuchi Y Suzuki M November 1993 Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31 33 Nat Genet 5 3 283 6 doi 10 1038 ng1193 283 PMID 8275093 S2CID 21435748 a b c Entrez Gene fukutin Online Mendelian Inheritance in Man OMIM 607440 Hayashi YK Ogawa M Tagawa K Noguchi S Ishihara T Nonaka I Arahata K July 2001 Selective deficiency of alpha dystroglycan in Fukuyama type congenital muscular dystrophy Neurology 57 1 115 21 doi 10 1212 wnl 57 1 115 PMID 11445638 S2CID 86733816 Haro C Uribe M L Quereda C Cruces J and Martin Nieto J 2018 Expression in retinal neurons of fukutin and FKRP the protein products of two dystroglycanopathy causative genes Molecular Vision 24 43 58 Murakami T Hayashi YK Noguchi S et al November 2006 Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness Ann Neurol 60 5 597 602 CiteSeerX 10 1 1 515 1578 doi 10 1002 ana 20973 PMID 17036286 Further reading EditMatsumoto H Noguchi S Sugie K et al 2004 Subcellular localization of fukutin and fukutin related protein in muscle cells J Biochem 135 6 709 12 doi 10 1093 jb mvh086 PMID 15213246 Puckett RL Moore SA Winder TL et al 2009 Further evidence of Fukutin mutations as a cause of childhood onset limb girdle muscular dystrophy without mental retardation Neuromuscul Disord 19 5 352 6 doi 10 1016 j nmd 2009 03 001 PMC 2698593 PMID 19342235 Chung W Winder TL LeDuc CA et al 2009 Founder Fukutin mutation causes Walker Warburg syndrome in four Ashkenazi Jewish families Prenat Diagn 29 6 560 9 doi 10 1002 pd 2238 PMC 2735827 PMID 19266496 Percival JM Froehner SC 2007 Golgi complex organization in skeletal muscle a role for Golgi mediated glycosylation in muscular dystrophies Traffic 8 3 184 94 doi 10 1111 j 1600 0854 2006 00523 x PMID 17319799 S2CID 20568065 Toda T 1999 Fukutin a novel protein product responsible for Fukuyama type congenital muscular dystrophy Seikagaku 71 1 55 61 PMID 10067123 Toda T Kobayashi K Kondo Iida E et al 2000 The Fukuyama congenital muscular dystrophy story Neuromuscul Disord 10 3 153 9 doi 10 1016 S0960 8966 99 00109 1 PMID 10734260 S2CID 20382548 Kimura K Wakamatsu A Suzuki Y et al 2006 Diversification of transcriptional modulation large scale identification and characterization of putative alternative promoters of human genes Genome Res 16 1 55 65 doi 10 1101 gr 4039406 PMC 1356129 PMID 16344560 Cotarelo RP Valero MC Prados B et al 2008 Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker Warburg syndrome Clin Genet 73 2 139 45 doi 10 1111 j 1399 0004 2007 00936 x hdl 10261 81951 PMID 18177472 S2CID 21991461 Vuillaumier Barrot S Quijano Roy S Bouchet Seraphin C et al 2009 Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype Neuromuscul Disord 19 3 182 8 doi 10 1016 j nmd 2008 12 005 PMID 19179078 S2CID 207264089 Yamamoto T Kawaguchi M Sakayori N et al 2006 Intracellular binding of fukutin and alpha dystroglycan relation to glycosylation of alpha dystroglycan Neurosci Res 56 4 391 9 doi 10 1016 j neures 2006 08 009 PMID 17005282 S2CID 53172961 Yoshioka M 2009 Phenotypic spectrum of Fukutinopathy most severe phenotype of Fukutinopathy Brain Dev 31 6 419 22 doi 10 1016 j braindev 2008 07 012 PMID 18834683 S2CID 6864803 Manzini MC Gleason D Chang BS et al 2008 Ethnically diverse causes of Walker Warburg syndrome WWS FCMD mutations are a more common cause of WWS outside of the Middle East Hum Mutat 29 11 E231 41 doi 10 1002 humu 20844 PMC 2577713 PMID 18752264 Perry JR Stolk L Franceschini N et al 2009 Meta analysis of genome wide association data identifies two loci influencing age at menarche Nat Genet 41 6 648 650 doi 10 1038 ng 386 PMC 2942986 PMID 19448620 Godfrey C Escolar D Brockington M et al 2006 Fukutin gene mutations in steroid responsive limb girdle muscular dystrophy Ann Neurol 60 5 603 10 doi 10 1002 ana 21006 PMID 17044012 Godfrey C Clement E Mein R et al 2007 Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan Brain 130 Pt 10 2725 35 doi 10 1093 brain awm212 PMID 17878207 Saredi S Ruggieri A Mottarelli E et al 2009 Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement Muscle Nerve 39 6 845 8 doi 10 1002 mus 21271 PMID 19396839 S2CID 32373751 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 PMC 528928 PMID 15489334 Mercuri E Messina S Bruno C et al 2009 Congenital muscular dystrophies with defective glycosylation of dystroglycan a population study Neurology 72 21 1802 9 doi 10 1212 01 wnl 0000346518 68110 60 PMID 19299310 S2CID 9429271 Arimura T Hayashi YK Murakami T et al 2009 Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy Circ J 73 1 158 61 doi 10 1253 circj CJ 08 0722 PMID 19015585 External links EditGeneReviews NCBI NIH UW entry on Congenital Muscular Dystrophy Overview LOVD mutation database FKTN This article incorporates text from the United States National Library of Medicine which is in the public domain This article on a gene on human chromosome 9 is a stub You can help Wikipedia by expanding it vte Retrieved from https en wikipedia org w index php title Fukutin amp oldid 1094198941, wikipedia, wiki, book, books, library,
