Information de reference pour ce titreAccession Number: | 00124336-201329040-00014.
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Author: | Levine, Timothy P. ,*; Daniels, Rachel D.; Gatta, Alberto T.; Wong, Louise H.; Hayes, Matthew J.
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Institution: | Department of Cell Biology, UCL Institute of Ophthalmology, Bath St, London EC1V 9EL, UK
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Title: | The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs.[Miscellaneous Article]
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Source: | Bioinformatics. 29(4):499-503, February 15, 2013.
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Abstract: | Motivation: Fronto-temporal dementia (FTD) and amyotrophic lateral sclerosis (ALS, also called motor neuron disease, MND) are severe neurodegenerative diseases that show considerable overlap at the clinical and cellular level. The most common single mutation in families with FTD or ALS has recently been mapped to a non-coding repeat expansion in the uncharacterized gene C9ORF72. Although a plausible mechanism for disease is that aberrant C9ORF72 mRNA poisons splicing, it is important to determine the cellular function of C9ORF72, about which nothing is known.
Results: Sensitive homology searches showed that C9ORF72 is a full-length distant homologue of proteins related to Differentially Expressed in Normal and Neoplasia (DENN), which is a GDP/GTP exchange factor (GEF) that activates Rab-GTPases. Our results suggest that C9ORF72 is likely to regulate membrane traffic in conjunction with Rab-GTPase switches, and we propose to name the gene and its product DENN-like 72 (DENNL72).
Supplementary information: Supplementary data are available at Bioinformatics online.
Contact: [email protected]
(C) Copyright Oxford University Press 2013.
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References: | Altschul, SF. et al. (1997) Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res., 25, 3389-3402.
Azzedine, H. et al. (2003) Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Am. J. Hum. Genet., 72, 1141-1153.
Baba, M. et al. (2006) Folliculin encoded by the BHD gene interacts with a binding protein, FNIP1, and AMPK, and is involved in AMPK and mTOR signaling. Proc. Natl Acad. Sci. USA, 103, 15552-15557.
Baba, M. et al. (2012) The folliculin-FNIP1 pathway deleted in human Birt-Hogg-Dube syndrome is required for murine B-cell development. Blood, 120, 1254-1261.
Behrends, C. et al. (2010) Network organization of the human autophagy system. Nature, 466, 68-76.
Brooks, ER. and Wallingford, JB. (2012) Control of vertebrate intraflagellar transport by the planar cell polarity effector Fuz. J. Cell Biol., 198, 37-45.
Carrasquillo, MM. et al. (2010) Genome-wide screen identifies rs646776 near sortilin as a regulator of progranulin levels in human plasma. Am. J. Hum. Genet., 87, 890-897.
Chou, KC. (2000) Prediction of tight turns and their types in proteins. Anal. Biochem., 286, 1-16.
DeJesus-Hernandez, M. et al. (2011) Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron, 72, 245-256.
Del Villar, K. and Miller, CA. (2004) Down-regulation of DENN/MADD, a TNF receptor binding protein, correlates with neuronal cell death in Alzheimer's disease brain and hippocampal neurons. Proc. Natl Acad. Sci. USA, 101, 4210-4215.
Dion, PA. et al. (2009) Genetics of motor neuron disorders: new insights into pathogenic mechanisms. Nat. Rev. Genet., 10, 769-782.
Frickey, T. and Lupas, A. (2004) CLANS: a Java application for visualizing protein families based on pairwise similarity. Bioinformatics, 20, 3702-3704.
Gerondopoulos, A. et al. (2012) BLOC-3 mutated in hermansky-pudlak syndrome is a Rab32/38 guanine nucleotide exchange factor. Curr. Biol., 22, 2135-2139.
Hadano, S. et al. (2010) Loss of ALS2/Alsin exacerbates motor dysfunction in a SOD1-expressing mouse ALS model by disturbing endolysosomal trafficking. PLoS One, 5, e9805.
Harris, H. and Rubinsztein, DC. (2012) Control of autophagy as a therapy for neurodegenerative disease. Nat. Rev. Neurol., 8, 108-117.
Hayes, MJ. et al. (2011) Yeast homologues of three BLOC-1 subunits highlight KxDL proteins as conserved interactors of BLOC-1. Traffic, 12, 260-268.
Kinch, LN. and Grishin, NV. (2006) Longin-like folds identified in CHiPS and DUF254 proteins: vesicle trafficking complexes conserved in eukaryotic evolution. Protein Sci., 15, 2669-2674.
Lal, K. et al. (2005) Identification of a very large Rab GTPase family in the parasitic protozoan Trichomonas vaginalis. Mol. Biochem. Parasitol., 143, 226-235.
Linford, A. et al. (2012) Rab14 and its exchange factor FAM116 link endocytic recycling and adherens junction stability in migrating cells. Dev. Cell, 22, 952-966.
Marat, AL. et al. (2011) DENN domain proteins: regulators of Rab GTPases. J. Biol. Chem., 286, 13791-13800.
Miertzschke, M. et al. (2011) Structural analysis of the Ras-like G protein MglA and its cognate GAP MglB and implications for bacterial polarity. Embo. J., 30, 4185-4197.
Morris, HR. et al. (2012) Recent advances in the genetics of the ALS-FTLD complex. Curr. Neurol. Neurosci. Rep., 12, 243-250.
Neklesa, TK. and Davis, RW. (2009) A genome-wide screen for regulators of TORC1 in response to amino acid starvation reveals a conserved Npr2/3 complex. PLoS Genet., 5, e1000515.
Nookala, RK. et al. (2012) Crystal structure of folliculin reveals a hidDENN function in genetically inherited renal cancer. Open Biol., 2, 120071.
Prudencio, M. et al. (2012) Misregulation of human sortilin splicing leads to the generation of a nonfunctional progranulin receptor. Proc. Natl Acad. Sci. USA, 109, 21510-21515.
Renton, AE. et al. (2011) A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron, 72, 257-268.
Saito-Nakano, Y. et al. (2005) The diversity of Rab GTPases in Entamoeba histolytica. Exp. Parasitol., 110, 244-252.
Schlenker, O. et al. (2006) The structure of the mammalian signal recognition particle (SRP) receptor as prototype for the interaction of small GTPases with Longin domains. J. Biol. Chem., 281, 8898-8906.
Simon-Sanchez, J. et al. (2012) The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions. Brain, 135, 723-735.
Soding, J. (2005) Protein homology detection by HMM-HMM comparison. Bioinformatics, 21, 951-960.
Soding, J. et al. (2005) The HHpred interactive server for protein homology detection and structure prediction. Nucleic Acids Res., 33, W244-W248.
Todd, PK. and Paulson, HL. (2010) RNA-mediated neurodegeneration in repeat expansion disorders. Ann. Neurol., 67, 291-300.
Tsai, PC. et al. (2008) Afi1p functions as an Arf3p polarization-specific docking factor for development of polarity. J. Biol. Chem., 283, 16915-16927.
Wu, X. et al. (2011) Insights regarding guanine nucleotide exchange from the structure of a DENN-domain protein complexed with its Rab GTPase substrate. Proc. Natl Acad. Sci. USA, 108, 18672-18677.
Yoshimura, S. et al. (2010) Family-wide characterization of the DENN domain Rab GDP-GTP exchange factors. J. Cell. Biol., 191, 367-381.
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Language: | English.
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Document Type: | APPLICATIONS NOTES: STRUCTURAL BIOINFORMATICS.
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Journal Subset: | Life & Biomedical Sciences. Medical Humanities. Science.
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ISSN: | 1367-4803
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NLM Journal Code: | cw9, 9808944
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DOI Number: | https://dx.doi.org/10.1093/bioin...- ouverture dans une nouvelle fenêtre
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