KIF1A, an axonal transporter of synaptic vesicles, is mutated in hereditary sensory and autonomic neuropathy type 2

American Journal of Human Genetics

Volumn 89, Issue 2, 2011, Pages 219-230

  Rivire, Jean Baptiste ^a,b,c   Ramalingam, Siriram ^a,b,c   Lavastre, Valérie ^a,b,c   Shekarabi, Masoud ^a,b,c   Holbert, Sébastien ^a,b,c   Lafontaine, Julie ^b   Srour, Myriam ^a,b,c   Merner, Nancy ^a,b,c   Rochefort, Daniel ^a,b,c   Hince, Pascale ^a,b,c   Gaudet, Rébecca ^a,b,c   Mes Masson, Anne Marie ^b   Baets, Jonathan ^d,e   Houlden, Henry ^f   Brais, Bernard ^a,b,c   Nicholson, Garth A ^g,h   Van Esch, Hilde ⁱ   Nafissi, Shahriar ^j   De Jonghe, Peter ^d,e   Reilly, Mary M ^f   Timmerman, Vincent ^d   Dion, Patrick A ^a,b,c   Rouleau, Guy A ^a,b,c,k   more..

^a UNIVERSITY OF MONTREAL   (Canada)

^b CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^c UNIVERSITÉ DE MONTRÉAL   (Canada)

^d DEPARTMENT OF PLANT SYSTEMS BIOLOGY   (Belgium)

^e ANTWERP UNIVERSITY HOSPITAL   (Belgium)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g Department of Microbiology and Infectious Diseases   (Australia)

^h University of Sydney   (Australia)

ⁱ UNIVERSITY OF LEUVEN   (Belgium)

^j TEHRAN UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^k UNIVERSITY OF MONTREAL   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN KINASE WNK1; SHORT HAIRPIN RNA;

ADOLESCENT; ALTERNATIVE RNA SPLICING; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHROMOSOME 2Q; CLINICAL FEATURE; CONSANGUINITY; EXON; GENE; GENE LOCUS; GENE SEQUENCE; HAPLOTYPE; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE II; HOMOZYGOSITY; HUMAN; HUMAN CELL; IMMUNODETECTION; KIF1A GENE; MAJOR CLINICAL STUDY; MALE; MOLECULAR PATHOLOGY; NERVE CELL; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PERIPHERAL NERVOUS SYSTEM; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; SYNAPSE VESICLE; TWO HYBRID SYSTEM;

EID: 80051663564     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.06.013     Document Type: Article

References (29)

1. F.B. Axelrod Hereditary sensory and autonomic neuropathies. Familial dysautonomia and other HSANs Clin. Auton. Res. 12 Suppl 1 2002 I2 I14
2. M.J. Hilz Assessment and evaluation of hereditary sensory and autonomic neuropathies with autonomic and neurophysiological examinations Clin. Auton. Res. 12 Suppl 1 2002 I33 I43
3. R.G. Lafreniere, M.L. MacDonald, M.P. Dube, J. MacFarlane, M. O'Driscoll, B. Brais, S. Meilleur, R.R. Brinkman, O. Dadivas, T. Pape Study of Canadian Genetic Isolates Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates Am. J. Hum. Genet. 74 2004 1064 1073 (Pubitemid 38568977)
4. M. Shekarabi, N. Girard, J.B. Rivire, P. Dion, M. Houle, A. Toulouse, R.G. Lafrenire, F. Vercauteren, P. Hince, and J. Laganiere Mutations in the nervous system - Specific HSN2 exon of WNK1 cause hereditary sensory neuropathy type II J. Clin. Invest. 118 2008 2496 2505 (Pubitemid 351949777)
5. E. Einarsdottir, A. Carlsson, J. Minde, G. Toolanen, O. Svensson, G. Solders, G. Holmgren, D. Holmberg, and M. Holmberg A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception Hum. Mol. Genet. 13 2004 799 805 (Pubitemid 38515209)
6. Y. Indo, M. Tsuruta, Y. Hayashida, M.A. Karim, K. Ohta, T. Kawano, H. Mitsubuchi, H. Tonoki, Y. Awaya, and I. Matsuda Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis Nat. Genet. 13 1996 485 488 (Pubitemid 26256627)
7. A. Bouhouche, A. Benomar, N. Bouslam, T. Chkili, and M. Yahyaoui Mutation in the epsilon subunit of the cytosolic chaperonin-containing t-complex peptide-1 (Cct5) gene causes autosomal recessive mutilating sensory neuropathy with spastic paraplegia J. Med. Genet. 43 2006 441 443
8. S.A. Slaugenhaupt, A. Blumenfeld, S.P. Gill, M. Leyne, J. Mull, M.P. Cuajungco, C.B. Liebert, B. Chadwick, M. Idelson, and L. Reznik Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia Am. J. Hum. Genet. 68 2001 598 605 (Pubitemid 32202755)
9. I. Kurth, T. Pamminger, J.C. Hennings, D. Soehendra, A.K. Huebner, A. Rotthier, J. Baets, J. Senderek, H. Topaloglu, and S.A. Farrell Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy Nat. Genet. 41 2009 1179 1181
10. J.L. Dawkins, D.J. Hulme, S.B. Brahmbhatt, M. Auer-Grumbach, and G.A. Nicholson Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I Nat. Genet. 27 2001 309 312 (Pubitemid 32201853)
11. K. Verhoeven, P. De Jonghe, K. Coen, N. Verpoorten, M. Auer-Grumbach, J.M. Kwon, D. FitzPatrick, E. Schmedding, E. De Vriendt, and A. Jacobs Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy Am. J. Hum. Genet. 72 2003 722 727 (Pubitemid 36255971)
12. A. Rotthier, M. Auer-Grumbach, K. Janssens, J. Baets, A. Penno, L. Almeida-Souza, K. Van Hoof, A. Jacobs, E. De Vriendt, and B. Schlotter-Weigel Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I Am. J. Hum. Genet. 87 2010 513 522
13. C. Guelly, P.P. Zhu, L. Leonardis, L. Papić, J. Zidar, M. Schabhüttl, H. Strohmaier, J. Weis, T.M. Strom, and J. Baets Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I Am. J. Hum. Genet. 88 2011 99 105
14. T.J. Murray Congenital sensory neuropathy Brain 96 1973 387 394
15. M. Ota, R.D. Ellefson, E.H. Lambert, and P.J. Dyck Hereditary sensory neuropathy, type II. Clinical, electrophysiologic, histologic, and biochemical studies of a Quebec kinship Arch. Neurol. 29 1973 23 37
16. K. Roddier, T. Thomas, G. Marleau, A.M. Gagnon, M.J. Dicaire, A. St-Denis, I. Gosselin, A.M. Sarrazin, A. Larbrisseau, and M. Lambert Two mutations in the HSN2 gene explain the high prevalence of HSAN2 in French Canadians Neurology 64 2005 1762 1767 (Pubitemid 40695813)
17. A. Rotthier, J. Baets, E. De Vriendt, A. Jacobs, M. Auer-Grumbach, N. Lévy, N. Bonello-Palot, S.S. Kilic, J. Weis, and A. Nascimento Genes for hereditary sensory and autonomic neuropathies: A genotype-phenotype correlation Brain 132 2009 2699 2711
18. Y. Okada, H. Yamazaki, Y. Sekine-Aizawa, and N. Hirokawa The neuron-specific kinesin superfamily protein KIF1A is a unique monomeric motor for anterograde axonal transport of synaptic vesicle precursors Cell 81 1995 769 780
19. S. Purcell, B. Neale, K. Todd-Brown, L. Thomas, M.A. Ferreira, D. Bender, J. Maller, P. Sklar, P.I. de Bakker, M.J. Daly, and P.C. Sham PLINK: A tool set for whole-genome association and population-based linkage analyses Am. J. Hum. Genet. 81 2007 559 575 (Pubitemid 47330214)
20. A. Radonić, S. Thulke, I.M. Mackay, O. Landt, W. Siegert, and A. Nitsche Guideline to reference gene selection for quantitative real-time PCR Biochem. Biophys. Res. Commun. 313 2004 856 862 (Pubitemid 38050071)
21. K.J. Livak, and T.D. Schmittgen Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method Methods 25 2001 402 408 (Pubitemid 34164012)
22. Y. Yonekawa, A. Harada, Y. Okada, T. Funakoshi, Y. Kanai, Y. Takei, S. Terada, T. Noda, and N. Hirokawa Defect in synaptic vesicle precursor transport and neuronal cell death in KIF1A motor protein-deficient mice J. Cell Biol. 141 1998 431 441 (Pubitemid 28237091)
23. A.J. Otsuka, A. Jeyaprakash, J. García-Añoveros, L.Z. Tang, G. Fisk, T. Hartshorne, R. Franco, and T. Born The C. elegans unc-104 gene encodes a putative kinesin heavy chain-like protein Neuron 6 1991 113 122
24. F.F. Hamdan, J. Gauthier, Y. Araki, D.T. Lin, Y. Yoshizawa, K. Higashi, A.R. Park, D. Spiegelman, S. Dobrzeniecka, A. Piton S2D Group Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability Am. J. Hum. Genet. 88 2011 306 316
25. Y. Erlich, S. Edvardson, E. Hodges, S. Zenvirt, P. Thekkat, A. Shaag, T. Dor, G.J. Hannon, and O. Elpeleg Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis Genome Res. 21 2011 658 664
26. B.H. Lee, X. Min, C.J. Heise, B.E. Xu, S. Chen, H. Shu, K. Luby-Phelps, E.J. Goldsmith, and M.H. Cobb WNK1 phosphorylates synaptotagmin 2 and modulates its membrane binding Mol. Cell 15 2004 741 751 (Pubitemid 39194904)
27. R. Sato-Yoshitake, H. Yorifuji, M. Inagaki, and N. Hirokawa The phosphorylation of kinesin regulates its binding to synaptic vesicles J. Biol. Chem. 267 1992 23930 23936 (Pubitemid 23088206)
28. G. Morfini, G. Pigino, G. Szebenyi, Y. You, S. Pollema, and S.T. Brady JNK mediates pathogenic effects of polyglutamine-expanded androgen receptor on fast axonal transport Nat. Neurosci. 9 2006 907 916 (Pubitemid 43980505)
29. D.R. Klopfenstein, and R.D. Vale The lipid binding pleckstrin homology domain in UNC-104 kinesin is necessary for synaptic vesicle transport in Caenorhabditis elegans Mol. Biol. Cell 15 2004 3729 3739 (Pubitemid 38989710)