Access the full text.
Sign up today, get DeepDyve free for 14 days.
W. Severt, T. Biber, X. Wu, N. Hecht, R. Delorenzo, E. Jakoi (1999)
The suppression of testis-brain RNA binding protein and kinesin heavy chain disrupts mRNA sorting in dendrites.Journal of cell science, 112 ( Pt 21)
J. Hodgkin, J. Zellan, D. Albertson (1994)
Identification of a candidate primary sex determination locus, fox-1, on the X chromosome of Caenorhabditis elegans.Development, 120 12
R. Page (1996)
TreeView: an application to display phylogenetic trees on personal computersComputer applications in the biosciences : CABIOS, 12 4
A. Craig, Ashkan Haghighat, Annie Yu, N. Sonenberg (1998)
Interaction of polyadenylate-binding protein with the eIF4G homologue PAIP enhances translationNature, 392
L. McCarthy, J. Terrett, Maria Davis, Catherine Knights, Angela Smith, R. Critcher, K. Schmitt, J. Hudson, N. Spurr, P. Goodfellow (1997)
A first-generation whole genome-radiation hybrid map spanning the mouse genome.Genome research, 7 12
G. Imbert, F. Saudou, G. Yvert, D. Devys, Y. Trottier, J. Garnier, C. Weber, J. Mandel, G. Cancel, N. Abbas, A. Dürr, O. Didierjean, G. Stevanin, Y. Agid, A. Brice (1996)
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeatsNature Genetics, 14
E. Storey, S. Forrest, Janet Shaw, P. Mitchell, R. Gardner (1999)
Spinocerebellar ataxia type 2: clinical features of a pedigree displaying prominent frontal-executive dysfunction.Archives of neurology, 56 1
T. Nechiporuk, D. Huynh, K. Figueroa, S. Sahba, A. Nechiporuk, S. Pulst (1998)
The mouse SCA2 gene: cDNA sequence, alternative splicing and protein expression.Human molecular genetics, 7 8
D. Mangus, N. Amrani, A. Jacobson (1998)
Pbp1p, a Factor Interacting withSaccharomyces cerevisiae Poly(A)-Binding Protein, Regulates PolyadenylationMolecular and Cellular Biology, 18
Gilles David, N. Abbas, G. Stevanin, A. Dürr, G. Yvert, G. Cancel, C. Weber, G. Imbert, F. Saudou, E. Antoniou, H. Drabkin, R. Gemmill, P. Giunti, A. Benomar, N. Wood, M. Ruberg, Y. Agid, J. Mandel, A. Brice (1997)
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansionNature Genetics, 17
H. Shibata, D. Huynh, S. Pulst (2000)
A novel protein with RNA-binding motifs interacts with ataxin-2.Human molecular genetics, 9 9
Magdalena Skipper, Catherine Milne, Jonathan Hodgkin (1999)
Genetic and molecular analysis of fox-1, a numerator element involved in Caenorhabditis elegans primary sex determination.Genetics, 151 2
O. Zhuchenko, J. Bailey, P. Bonnen, T. Ashizawa, D. Stockton, C. Amos, W. Dobyns, S. Subramony, H. Zoghbi, Cheng Lee (1997)
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channelNature Genetics, 15
Y. Kawaguchi, T. Okamoto, M. Taniwaki, M. Aizawa, M. Inoue, S. Katayama, H. Kawakami, Shigenobu Nakamura, M. Nishimura, I. Akiguchi, J. Kimura, S. Narumiya, A. Kakizuka (1994)
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1Nature Genetics, 8
Shinji Yue, H. Serra, H. Zoghbi, Harry Orr (2001)
The spinocerebellar ataxia type 1 protein, ataxin-1, has RNA-binding activity that is inversely affected by the length of its polyglutamine tract.Human molecular genetics, 10 1
K. Sanpei, H. Takano, S. Igarashi, Toshiya Sato, M. Oyake, H. Sasaki, A. Wakisaka, K. Tashiro, Y. Ishida, T. Ikeuchi, R. Koide, M. Saito, A. Sato, Toshihisa Tanaka, S. Hanyu, Y. Takiyama, M. Nishizawa, N. Shimizu, Y. Nomura, M. Segawa, K. Iwabuchi, I. Eguchi, Hirosato Tanaka, H. Takahashi, S. Tsuji (1996)
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECTNature Genetics, 14
D. Huynh, K. Figueroa, Nam Hoang, S. Pulst (2000)
Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or humanNature Genetics, 26
H. Orr, M. Chung, S. Banfi, T. Kwiatkowski, A. Servadio, A. Beaudet, A. McCall, L. Duvick, L. Ranum, H. Zoghbi (1993)
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1Nature Genetics, 4
R. Koide, T. Ikeuchi, O. Onodera, Hidetomo Tanaka, S. Igarashi, K. Endo, H. Takahashi, R. Kondo, A. Ishikawa, T. Hayashi, M. Saito, A. Tomoda, T. Miike, H. Naito, F. Ikuta, S. Tsuji (1994)
Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA)Nature Genetics, 6
G. Kozlov, J. Trempe, Kianoush Khaleghpour, Avak Kahvejian, I. Ekiel, K. Gehring (2001)
Structure and function of the C-terminal PABC domain of human poly(A)-binding proteinProceedings of the National Academy of Sciences of the United States of America, 98
I. Dunham, N. Shimizu, B. Roe, S. Chissoe, A. Hunt, J. Collins, R. Bruskiewich, D. Beare, M. Clamp, L. Smink, R. Ainscough, J. Almeida, A. Babbage, C. Bagguley, J. Bailey, K. Barlow, Kirsty Bates, O. Beasley, C. Bird, S. Blakey, A. Bridgeman, D. Buck, J. Burgess, W. Burrill, J. Burton, C. Carder, N. Carter, Y. Chen, G. Clark, S. Clegg, V. Cobley, C. Cole, R. Collier, R. Connor, D. Conroy, N. Corby, G. Coville, Antony Cox, Joy Davis, E. Dawson, P. Dhami, C. Dockree, S. Dodsworth, R. Durbin, A. Ellington, K. Evans, J. Fey, K. Fleming, L. French, A. Garner, J. Gilbert, Melanie Goward, D. Grafham, M. Griffiths, C. Hall, R. Hall, G. Hall-Tamlyn, R. Heathcott, Shuk-mei Ho, S. Holmes, S. Hunt, M. Jones, J. Kershaw, A. Kimberley, A. King, G. Laird, C. Langford, M. Leversha, C. Lloyd, D. Lloyd, I. Martyn, M. Mashreghi-mohammadi, L. Matthews, O. Mccann, J. McClay, S. McLaren, A. McMurray, S. Milne, B. Mortimore, C. Odell, R. Pavitt, A. Pearce, D. Pearson, B. Phillimore, S. Phillips, R. Plumb, H. Ramsay, Y. Ramsey, L. Rogers, M. Ross, C. Scott, H. Sehra, C. Skuce, S. Smalley, Michael Smith, C. Soderlund, L. Spragon, C. Steward, J. Sulston, R. Swann, M. Vaudin, Matthew Wall, J. Wallis, M. Whiteley, D. Willey, L. Williams, S. Williams, H. Williamson, T. Wilmer, L. Wilming, C. Wright, T. Hubbard, D. Bentley, Stephan Beck, J. Rogers, S. Minoshima, K. Kawasaki, Takashi Sasaki, S. Asakawa, J. Kudoh, A. Shintani, K. Shibuya, Y. Yoshizaki, N. Aoki, S. Mitsuyama, F. Chen, L. Chu, J. Crabtree, S. Deschamps, A. Do, T. Do, A. Dorman, F. Fang, Y. Fu, P. Hu, A. Hua, S. Kenton, H. Lai, H. Lao, Julian Lewis, S. Lewis, S. Lin, P. Loh, E. Malaj, Thach Nguyen, H. Pan, S. Phan, S. Qi, Y. Qian, L. Ray, Q. Ren, S. Shaull, D. Sloan, L. Song, Q. Wang, Yuhang Wang, Z. Wang, James White, D. Willingham, H. Wu, Ziyun Yao, M. Zhan, G. Zhang, J. Murray, N. Miller, P. Minx, R. Fulton, D. Johnson, G. Bemis, D. Bentley, H. Bradshaw, S. Bourne, M. Cordes, Zijin Du, L. Fulton, D. Goela, T. Graves, J. Hawkins, K. Hinds, K. Kemp, P. Latreille, Daniel Layman, P. Ozersky, T. Rohlfing, P. Scheet, C. Walker, A. Wamsley, Patricia Wohldmann, K. Pepin, J. Nelson, I. Korf, J. Bedell, L. Hillier, E. Mardis, R. Waterston, R. Wilson, B. Emanuel, T. Shaikh, Hiroki Kurahashi, S. Saitta, M. Budarf, H. McDermid, Alexander Johnson, A. Wong, B. Morrow, L. Edelmann, U. Kim, H. Shizuya, Melvin Simon, J. Dumanski, M. Peyrard, D. Kedra, E. Seroussi, I. Fransson, I. Tapia, C. Bruder, K. O'Brien (1999)
The DNA sequence of human chromosome 22Nature, 402
D. Huynh, M. Bigio, Diane Ho, S. Pulst (1999)
Expression of ataxin‐2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2Annals of Neurology, 45
Akhilesh Pandey, TU Agc, Francis Crick, La Spada (1991)
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophyNature, 352
M. Hattori, A. Fujiyama, T. Taylor, H. Watanabe, T. Yada, H. Park, A. Toyoda, K. Ishii, Y. Totoki, D. Choi, Y. Groner, E. Soeda, M. Ohki, T. Takagi, Y. Sakaki, S. Taudien, K. Blechschmidt, A. Polley, U. Menzel, J. Delabar, K. Kumpf, R. Lehmann, D. Patterson, K. Reichwald, A. Rump, M. Schillhabel, A. Schudy, W. Zimmermann, A. Rosenthal, J. Kudoh, K. Schibuya, K. Kawasaki, S. Asakawa, A. Shintani, T. Sasaki, K. Nagamine, S. Mitsuyama, S. Antonarakis, S. Minoshima, N. Shimizu, G. Nordsiek, K. Hornischer, P. Brant, M. Scharfe, O. Schon, A. Desario, J. Reichelt, G. Kauer, H. Blocker, J. Ramser, A. Beck, S. Klages, S. Hennig, L. Riesselmann, E. Dagand, T. Haaf, S. Wehrmeyer, K. Borzym, K. Gardiner, D. Nižetić, F. Francis, H. Lehrach, R. Reinhardt, M. Yaspo (2000)
The DNA sequence of human chromosome 21.Nature, 405 6784
S. Pulst, A. Nechiporuk, T. Nechiporuk, S. Gispert, Xiao-Ning Chen, Í. Lopes-Cendes, Susan Pearlman, S. Starkman, Guillermo Orozco-Díaz, A. Lunkes, P. Dejong, G. Rouleau, G. Auburger, J. Korenberg, C. Figueroa, S. Sahba (1996)
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2Nature Genetics, 14
Raymond Bandziulis, M. Swanson, G. Dreyfuss (1989)
RNA-binding proteins as developmental regulators.Genes & development, 3 4
M. Holmberg, C. Duyckaerts, A. Durr, G. Cancel, I. Gourfinkel‐An, P. Damier, B. Faucheux, Y. Trottier, E. Hirsch, Y. Agid, A. Brice (1998)
Spinocerebellar ataxia type 7 (SCA7): a neurodegenerative disorder with neuronal intranuclear inclusions.Human molecular genetics, 7 5
M. MacDonald, C. Ambrose, M. Duyao, R. Myers, Carol Lin, L. Srinidhi, G. Barnes, Sherryl Taylor, M. James, Nicolet Groot, Heather Macfarlane, B. Jenkins, M. Anderson, N. Wexler, J. Gusella, G. Bates, S. Baxendale, H. Hummerich, S. Kirby, M. North, S. Youngman, R. Mott, G. Zehetner, Z. Sedlacek, A. Poustka, A. Frischauf, H. Lehrach, A. Buckler, D. Church, L. Doucette-Stamm, M. O’Donovan, Laura Riba-Ramírez, Manish Shah, V. Stanton, S. Strobel, K. Draths, Jennifer Wales, P. Dervan, D. Housman, M. Altherr, R. Shiang, L. Thompson, T. Fielder, J. Wasmuth, D. Tagle, J. Valdes, Lon Elmer, M. Allard, L. Castilla, M. Swaroop, K. Blanchard, F. Collins, R. Snell, T. Holloway, Kathleen Gillespie, N. Datson, D. Shaw, P. Harper (1993)
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomesCell, 72
Human ataxin-2 contains a polyglutamine repeat that is expanded in patients with spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is highly conserved in evolution with orthologs in mouse, Caenorhabditis elegans, and Drosophila melanogaster. It interacts at its C-terminus with ataxin-2 binding protein 1, A2BP1. This study presents a highly conserved mouse ortholog of A2BP1, designated A2bp1. The amino acid sequence of the human and mouse protein is 97.6% identical. This remarkable degree of conservation supports the fact that these proteins have an important basic function in development and differentiation. Sequence analysis reveals the existence of RNA binding motifs. The A2bp1 transcript was found in various regions of the CNS including cerebellum, cerebral cortex, brain stem, and thalamus/hypothalamus. The A2bp1 protein was detected by immunocytochemistry in the CNS and connective tissue of the mouse embryo starting at stage E11, as well as in the heart at all stages. Mouse embryos showed varying expression of A2bp1 at all stages. Previous studies in other model systems had implicated the orthologs of ataxin-2 and A2BP1 in development. This study suggests a role for A2bp1 in embryogenesis as well as in the adult nervous system, possibly mediated by a function in RNA distribution or processing.
Mammalian Genome – Springer Journals
Published: Feb 18, 2014
Read and print from thousands of top scholarly journals.
Already have an account? Log in
Bookmark this article. You can see your Bookmarks on your DeepDyve Library.
To save an article, log in first, or sign up for a DeepDyve account if you don’t already have one.
Copy and paste the desired citation format or use the link below to download a file formatted for EndNote
Access the full text.
Sign up today, get DeepDyve free for 14 days.
All DeepDyve websites use cookies to improve your online experience. They were placed on your computer when you launched this website. You can change your cookie settings through your browser.