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Volumn 23, Issue 6, 2009, Pages 281-290

A simple PCR-based genotyping method for M105I mutation of alpha-SNAP enhances the study of early pathological changes in hyh phenotype

Author keywords

ACRS PCR; alpha SNAP; Genotyping; hyh mouse; Napa; SNAREs

Indexed keywords

ALPHA SOLUBLE N ETHYLMALEIMIDE SENSITIVE FUSION ATTACHMENT PROTEIN; BRAIN PROTEIN; HYDROCEPHALUS WITH HOP GAIT PROTEIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

EID: 70350393131     PISSN: 08908508     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mcp.2009.07.002     Document Type: Article
Times cited : (15)

References (52)
  • 1
    • 0025359065 scopus 로고
    • SNAPs, a family of NSF attachment proteins involved in intracellular membrane fusion in animals and yeast
    • Clary D.O., Griff I.C., and Rothman J.E. SNAPs, a family of NSF attachment proteins involved in intracellular membrane fusion in animals and yeast. Cell 61 (1990) 709-721
    • (1990) Cell , vol.61 , pp. 709-721
    • Clary, D.O.1    Griff, I.C.2    Rothman, J.E.3
  • 2
    • 0030992881 scopus 로고    scopus 로고
    • The roles of NSF, SNAPs and SNAREs during membrane fusion
    • Woodman P.G. The roles of NSF, SNAPs and SNAREs during membrane fusion. Biochim Biophys Acta 1357 (1997) 155-172
    • (1997) Biochim Biophys Acta , vol.1357 , pp. 155-172
    • Woodman, P.G.1
  • 3
    • 0031815854 scopus 로고    scopus 로고
    • Soluble NSF-attachment proteins
    • Stenbeck G. Soluble NSF-attachment proteins. Int J Biochem Cell Biol 30 (1998) 573-577
    • (1998) Int J Biochem Cell Biol , vol.30 , pp. 573-577
    • Stenbeck, G.1
  • 4
  • 5
    • 0037187768 scopus 로고    scopus 로고
    • NSF ATPase and alpha-/beta-SNAPs disassemble the AMPA receptor-PICK1 complex
    • Hanley J.G., Khatri L., Hanson P.I., and Ziff E.B. NSF ATPase and alpha-/beta-SNAPs disassemble the AMPA receptor-PICK1 complex. Neuron 34 (2002) 53-67
    • (2002) Neuron , vol.34 , pp. 53-67
    • Hanley, J.G.1    Khatri, L.2    Hanson, P.I.3    Ziff, E.B.4
  • 8
    • 26444433186 scopus 로고    scopus 로고
    • Dynamics of SNARE assembly and disassembly during sperm acrosomal exocytosis
    • De Blas G.A., Roggero C.M., Tomes C.N., and Mayorga L.S. Dynamics of SNARE assembly and disassembly during sperm acrosomal exocytosis. PLoS Biol 3 (2005) e323
    • (2005) PLoS Biol , vol.3
    • De Blas, G.A.1    Roggero, C.M.2    Tomes, C.N.3    Mayorga, L.S.4
  • 10
    • 15544372858 scopus 로고    scopus 로고
    • Exocytosis of lung surfactant: from the secretory vesicle to the air-liquid interface
    • Dietl P., and Haller T. Exocytosis of lung surfactant: from the secretory vesicle to the air-liquid interface. Annu Rev Physiol 67 (2005) 595-621
    • (2005) Annu Rev Physiol , vol.67 , pp. 595-621
    • Dietl, P.1    Haller, T.2
  • 11
    • 0033583068 scopus 로고    scopus 로고
    • alpha-soluble N-ethylmaleimide-sensitive factor attachment protein is expressed in pancreatic beta cells and functions in insulin but not gamma-aminobutyric acid secretion
    • Nagamatsu S., Watanabe T., Nakamichi Y., Yamamura C., Tsuzuki K., and Matsushima S. alpha-soluble N-ethylmaleimide-sensitive factor attachment protein is expressed in pancreatic beta cells and functions in insulin but not gamma-aminobutyric acid secretion. J Biol Chem 274 (1999) 8053-8060
    • (1999) J Biol Chem , vol.274 , pp. 8053-8060
    • Nagamatsu, S.1    Watanabe, T.2    Nakamichi, Y.3    Yamamura, C.4    Tsuzuki, K.5    Matsushima, S.6
  • 12
    • 33749261425 scopus 로고    scopus 로고
    • A ubiquitous membrane fusion protein alpha SNAP: a potential therapeutic target for cancer, diabetes and neurological disorders?
    • Andreeva A.V., Kutuzov M.A., and Voyno-Yasenetskaya T.A. A ubiquitous membrane fusion protein alpha SNAP: a potential therapeutic target for cancer, diabetes and neurological disorders?. Expert Opin Ther Targets 10 (2006) 723-733
    • (2006) Expert Opin Ther Targets , vol.10 , pp. 723-733
    • Andreeva, A.V.1    Kutuzov, M.A.2    Voyno-Yasenetskaya, T.A.3
  • 13
    • 0026692898 scopus 로고
    • The yeast SEC17 gene product is functionally equivalent to mammalian alpha-SNAP protein
    • Griff I.C., Schekman R., Rothman J.E., and Kaiser C.A. The yeast SEC17 gene product is functionally equivalent to mammalian alpha-SNAP protein. J Biol Chem 267 (1992) 12106-12115
    • (1992) J Biol Chem , vol.267 , pp. 12106-12115
    • Griff, I.C.1    Schekman, R.2    Rothman, J.E.3    Kaiser, C.A.4
  • 15
    • 0037697285 scopus 로고    scopus 로고
    • Defining the SNARE complex binding surface of alpha-SNAP: implications for SNARE complex disassembly
    • Marz K.E., Lauer J.M., and Hanson P.I. Defining the SNARE complex binding surface of alpha-SNAP: implications for SNARE complex disassembly. J Biol Chem 278 (2003) 27000-27008
    • (2003) J Biol Chem , vol.278 , pp. 27000-27008
    • Marz, K.E.1    Lauer, J.M.2    Hanson, P.I.3
  • 16
    • 0029058496 scopus 로고
    • Distinct domains of syntaxin are required for synaptic vesicle fusion complex formation and dissociation
    • Kee Y., Lin R.C., Hsu S.C., and Scheller R.H. Distinct domains of syntaxin are required for synaptic vesicle fusion complex formation and dissociation. Neuron 14 (1995) 991-998
    • (1995) Neuron , vol.14 , pp. 991-998
    • Kee, Y.1    Lin, R.C.2    Hsu, S.C.3    Scheller, R.H.4
  • 18
  • 19
    • 1442360430 scopus 로고    scopus 로고
    • The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate
    • Chae T.H., Kim S., Marz K.E., Hanson P.I., and Walsh C.A. The hyh mutation uncovers roles for alpha Snap in apical protein localization and control of neural cell fate. Nat Genet 36 (2004) 264-270
    • (2004) Nat Genet , vol.36 , pp. 264-270
    • Chae, T.H.1    Kim, S.2    Marz, K.E.3    Hanson, P.I.4    Walsh, C.A.5
  • 20
    • 0025313185 scopus 로고
    • Hydrocephalus with hop gait (hyh): a new mutation on chromosome 7 in the mouse
    • Bronson R.T., and Lane P.W. Hydrocephalus with hop gait (hyh): a new mutation on chromosome 7 in the mouse. Brain Res Dev Brain Res 54 (1990) 131-136
    • (1990) Brain Res Dev Brain Res , vol.54 , pp. 131-136
    • Bronson, R.T.1    Lane, P.W.2
  • 21
    • 1242297053 scopus 로고    scopus 로고
    • The gene for soluble N-ethylmaleimide sensitive factor attachment protein alpha is mutated in hydrocephaly with hop gait (hyh) mice
    • Hong H.K., Chakravarti A., and Takahashi J.S. The gene for soluble N-ethylmaleimide sensitive factor attachment protein alpha is mutated in hydrocephaly with hop gait (hyh) mice. Proc Natl Acad Sci U S A 101 (2004) 1748-1753
    • (2004) Proc Natl Acad Sci U S A , vol.101 , pp. 1748-1753
    • Hong, H.K.1    Chakravarti, A.2    Takahashi, J.S.3
  • 22
    • 33745179874 scopus 로고    scopus 로고
    • Heterogeneous expression of hydrocephalic phenotype in the hyh mice carrying a point mutation in alpha-SNAP
    • Batiz L.F., Paez P., Jimenez A.J., Rodriguez S., Wagner C., Perez-Figares J.M., et al. Heterogeneous expression of hydrocephalic phenotype in the hyh mice carrying a point mutation in alpha-SNAP. Neurobiol Dis 23 (2006) 152-168
    • (2006) Neurobiol Dis , vol.23 , pp. 152-168
    • Batiz, L.F.1    Paez, P.2    Jimenez, A.J.3    Rodriguez, S.4    Wagner, C.5    Perez-Figares, J.M.6
  • 25
    • 0141960107 scopus 로고    scopus 로고
    • Cellular mechanisms involved in the stenosis and obliteration of the cerebral aqueduct of hyh mutant mice developing congenital hydrocephalus
    • Wagner C., Batiz L.F., Rodriguez S., Jimenez A.J., Paez P., Tome M., et al. Cellular mechanisms involved in the stenosis and obliteration of the cerebral aqueduct of hyh mutant mice developing congenital hydrocephalus. J Neuropathol Exp Neurol 62 (2003) 1019-1040
    • (2003) J Neuropathol Exp Neurol , vol.62 , pp. 1019-1040
    • Wagner, C.1    Batiz, L.F.2    Rodriguez, S.3    Jimenez, A.J.4    Paez, P.5    Tome, M.6
  • 27
    • 58749087548 scopus 로고    scopus 로고
    • Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia
    • Ferland R.J., Batiz L.F., Neal J., Lian G., Bundock E., Lu J., et al. Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia. Hum Mol Genet 18 (2009) 497-516
    • (2009) Hum Mol Genet , vol.18 , pp. 497-516
    • Ferland, R.J.1    Batiz, L.F.2    Neal, J.3    Lian, G.4    Bundock, E.5    Lu, J.6
  • 28
    • 0025752980 scopus 로고
    • Application of natural and amplification created restriction sites for the diagnosis of PKU mutations
    • Eiken H.G., Odland E., Boman H., Skjelkvale L., Engebretsen L.F., and Apold J. Application of natural and amplification created restriction sites for the diagnosis of PKU mutations. Nucleic Acids Res 19 (1991) 1427-1430
    • (1991) Nucleic Acids Res , vol.19 , pp. 1427-1430
    • Eiken, H.G.1    Odland, E.2    Boman, H.3    Skjelkvale, L.4    Engebretsen, L.F.5    Apold, J.6
  • 29
    • 0028922293 scopus 로고
    • Multiplex genotype determination at a DNA sequence polymorphism cluster in the human immunoglobulin heavy-chain region
    • Li H., and Hood L. Multiplex genotype determination at a DNA sequence polymorphism cluster in the human immunoglobulin heavy-chain region. Genomics 26 (1995) 199-206
    • (1995) Genomics , vol.26 , pp. 199-206
    • Li, H.1    Hood, L.2
  • 30
    • 0025754172 scopus 로고
    • Diagnosis of genetic disease by primer-specified restriction map modification, with application to cystic fibrosis and retinitis pigmentosa
    • Sorscher E.J., and Huang Z. Diagnosis of genetic disease by primer-specified restriction map modification, with application to cystic fibrosis and retinitis pigmentosa. Lancet 337 (1991) 1115-1118
    • (1991) Lancet , vol.337 , pp. 1115-1118
    • Sorscher, E.J.1    Huang, Z.2
  • 31
    • 0026788309 scopus 로고
    • Rapid diagnosis of beta-thalassemia mutations in Chinese by naturally and amplified created restriction sites
    • Chang J.G., Chen P.H., Chiou S.S., Lee L.S., Perng L.I., and Liu T.C. Rapid diagnosis of beta-thalassemia mutations in Chinese by naturally and amplified created restriction sites. Blood 80 (1992) 2092-2096
    • (1992) Blood , vol.80 , pp. 2092-2096
    • Chang, J.G.1    Chen, P.H.2    Chiou, S.S.3    Lee, L.S.4    Perng, L.I.5    Liu, T.C.6
  • 32
    • 0242524316 scopus 로고    scopus 로고
    • A PCR-mutagenesis strategy for rapid detection of mutations in codon 634 of the ret proto-oncogene related to MEN 2A
    • Roque M., Pusiol E., Perinetti H., Godoy C.P., and Mayorga L.S. A PCR-mutagenesis strategy for rapid detection of mutations in codon 634 of the ret proto-oncogene related to MEN 2A. BMC Med Genet 3 (2002) 4
    • (2002) BMC Med Genet , vol.3 , pp. 4
    • Roque, M.1    Pusiol, E.2    Perinetti, H.3    Godoy, C.P.4    Mayorga, L.S.5
  • 33
    • 0032832394 scopus 로고    scopus 로고
    • Restriction site insertion-PCR (RSI-PCR) for rapid discrimination and typing of closely related microbial strains
    • Daffonchio D., Borin S., Consolandi A., and Sorlini C. Restriction site insertion-PCR (RSI-PCR) for rapid discrimination and typing of closely related microbial strains. FEMS Microbiol Lett 180 (1999) 77-83
    • (1999) FEMS Microbiol Lett , vol.180 , pp. 77-83
    • Daffonchio, D.1    Borin, S.2    Consolandi, A.3    Sorlini, C.4
  • 34
    • 18944398969 scopus 로고    scopus 로고
    • A novel accurate amplification created restriction site method for determination of the wild type and the precore mutant hepatitis B virus variants
    • Amini-Bavil-Olyaee S., Sarrami-Forooshani R., Adeli A., Mahboudi F., Sabahi F., Nafisi H., et al. A novel accurate amplification created restriction site method for determination of the wild type and the precore mutant hepatitis B virus variants. J Virol Methods 127 (2005) 19-23
    • (2005) J Virol Methods , vol.127 , pp. 19-23
    • Amini-Bavil-Olyaee, S.1    Sarrami-Forooshani, R.2    Adeli, A.3    Mahboudi, F.4    Sabahi, F.5    Nafisi, H.6
  • 35
    • 0030611180 scopus 로고    scopus 로고
    • An assay for the Cpefat obesity mutation created with a modified primer
    • Walker J.A., and Truett G.E. An assay for the Cpefat obesity mutation created with a modified primer. Mamm Genome 8 (1997) 783-784
    • (1997) Mamm Genome , vol.8 , pp. 783-784
    • Walker, J.A.1    Truett, G.E.2
  • 36
    • 33847631675 scopus 로고    scopus 로고
    • A new molecular genetic diagnosis of the Btk(xid) mice
    • Takagi Y., Masui N., Yasuda M., and Ono S. A new molecular genetic diagnosis of the Btk(xid) mice. Exp Anim 56 (2007) 63-66
    • (2007) Exp Anim , vol.56 , pp. 63-66
    • Takagi, Y.1    Masui, N.2    Yasuda, M.3    Ono, S.4
  • 37
  • 39
  • 40
    • 10244227980 scopus 로고    scopus 로고
    • SNPicker: a graphical tool for primer picking in designing mutagenic endonuclease restriction assays
    • Niu T., and Hu Z. SNPicker: a graphical tool for primer picking in designing mutagenic endonuclease restriction assays. Bioinformatics 20 (2004) 3263-3265
    • (2004) Bioinformatics , vol.20 , pp. 3263-3265
    • Niu, T.1    Hu, Z.2
  • 41
    • 0642309748 scopus 로고    scopus 로고
    • SeqVISTA: a graphical tool for sequence feature visualization and comparison
    • Hu Z., Frith M., Niu T., and Weng Z. SeqVISTA: a graphical tool for sequence feature visualization and comparison. BMC Bioinformatics 4 (2003) 1
    • (2003) BMC Bioinformatics , vol.4 , pp. 1
    • Hu, Z.1    Frith, M.2    Niu, T.3    Weng, Z.4
  • 42
    • 0033990048 scopus 로고    scopus 로고
    • Primer3 on the WWW for general users and for biologist programmers
    • Rozen S., and Skaletsky H. Primer3 on the WWW for general users and for biologist programmers. Methods Mol Biol 132 (2000) 365-386
    • (2000) Methods Mol Biol , vol.132 , pp. 365-386
    • Rozen, S.1    Skaletsky, H.2
  • 44
    • 0014949207 scopus 로고
    • Cleavage of structural proteins during the assembly of the head of bacteriophage T4
    • Laemmli U.K. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 227 (1970) 680-685
    • (1970) Nature , vol.227 , pp. 680-685
    • Laemmli, U.K.1
  • 46
    • 0025305576 scopus 로고
    • Effects of primer-template mismatches on the polymerase chain reaction: human immunodeficiency virus type 1 model studies
    • Kwok S., Kellogg D.E., McKinney N., Spasic D., Goda L., Levenson C., et al. Effects of primer-template mismatches on the polymerase chain reaction: human immunodeficiency virus type 1 model studies. Nucleic Acids Res 18 (1990) 999-1005
    • (1990) Nucleic Acids Res , vol.18 , pp. 999-1005
    • Kwok, S.1    Kellogg, D.E.2    McKinney, N.3    Spasic, D.4    Goda, L.5    Levenson, C.6
  • 47
    • 22244463887 scopus 로고    scopus 로고
    • Ependymal denudation and alterations of the subventricular zone occur in human fetuses with a moderate communicating hydrocephalus
    • Dominguez-Pinos M.D., Paez P., Jimenez A.J., Weil B., Arraez M.A., Perez-Figares J.M., et al. Ependymal denudation and alterations of the subventricular zone occur in human fetuses with a moderate communicating hydrocephalus. J Neuropathol Exp Neurol 64 (2005) 595-604
    • (2005) J Neuropathol Exp Neurol , vol.64 , pp. 595-604
    • Dominguez-Pinos, M.D.1    Paez, P.2    Jimenez, A.J.3    Weil, B.4    Arraez, M.A.5    Perez-Figares, J.M.6
  • 49
    • 0034836584 scopus 로고    scopus 로고
    • Periventricular heterotopia may result from radial glial fiber disruption
    • Santi M.R., and Golden J.A. Periventricular heterotopia may result from radial glial fiber disruption. J Neuropathol Exp Neurol 60 (2001) 856-862
    • (2001) J Neuropathol Exp Neurol , vol.60 , pp. 856-862
    • Santi, M.R.1    Golden, J.A.2
  • 50
    • 0345550397 scopus 로고    scopus 로고
    • FAK deficiency in cells contributing to the basal lamina results in cortical abnormalities resembling congenital muscular dystrophies
    • Beggs H.E., Schahin-Reed D., Zang K., Goebbels S., Nave K.A., Gorski J., et al. FAK deficiency in cells contributing to the basal lamina results in cortical abnormalities resembling congenital muscular dystrophies. Neuron 40 (2003) 501-514
    • (2003) Neuron , vol.40 , pp. 501-514
    • Beggs, H.E.1    Schahin-Reed, D.2    Zang, K.3    Goebbels, S.4    Nave, K.A.5    Gorski, J.6
  • 51
    • 0037797434 scopus 로고    scopus 로고
    • Loss of Emx2 function leads to ectopic expression of Wnt1 in the developing telencephalon and cortical dysplasia
    • Ligon K.L., Echelard Y., Assimacopoulos S., Danielian P.S., Kaing S., Grove E.A., et al. Loss of Emx2 function leads to ectopic expression of Wnt1 in the developing telencephalon and cortical dysplasia. Development 130 (2003) 2275-2287
    • (2003) Development , vol.130 , pp. 2275-2287
    • Ligon, K.L.1    Echelard, Y.2    Assimacopoulos, S.3    Danielian, P.S.4    Kaing, S.5    Grove, E.A.6
  • 52
    • 44649195798 scopus 로고    scopus 로고
    • Zic deficiency in the cortical marginal zone and meninges results in cortical lamination defects resembling those in type II lissencephaly
    • Inoue T., Ogawa M., Mikoshiba K., and Aruga J. Zic deficiency in the cortical marginal zone and meninges results in cortical lamination defects resembling those in type II lissencephaly. J Neurosci 28 (2008) 4712-4725
    • (2008) J Neurosci , vol.28 , pp. 4712-4725
    • Inoue, T.1    Ogawa, M.2    Mikoshiba, K.3    Aruga, J.4


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