Erbb4 mutations that disrupt the neuregulin-erbb4 pathway cause amyotrophic lateral sclerosis type 19

American Journal of Human Genetics

Volumn 93, Issue 5, 2013, Pages 900-905

  Takahashi, Yuji ^a   Fukuda, Yoko ^a   Yoshimura, Jun ^b   Toyoda, Atsushi ^c   Kurppa, Kari ^d,e   Moritoyo, Hiroyoko ^f   Belzil, Veronique V ^g   Dion, Patrick A ^g,h   Higasa, Koichiro ^b   Doi, Koichiro ^b   Ishiura, Hiroyuki ^a   Mitsui, Jun ^a   Date, Hidetoshi ^a   Ahsan, Budrul ^a   Matsukawa, Takashi ^a   Ichikawa, Yaeko ^a   Moritoyo, Takashi ^f   Ikoma, Mayumi ⁱ   Hashimoto, Tsukasa ⁱ   Kimura, Fumiharu ^j   Murayama, Shigeo ^k   Onodera, Osamu ^l   Nishizawa, Masatoyo ^l   Yoshida, Mari ^m   Atsuta, Naoki ⁿ   Sobue, Gen ⁿ   Cals, Ja ^o   Fifita, Jennifer A ^p,q,r   Williams, Kelly L ^p,q,r   Blair, Ian P ^p,q,r   Nicholson, Garth A ^p,q   Gonzalez Perez, Paloma ^s   Brown, Robert H ^s   Nomoto, Masahiro ^f   Elenius, Klaus ^d,t   Rouleau, Guy A ^g,u,v   Fujiyama, Asao ^c   Morishita, Shinichi ^b   Goto, Jun ^a   Tsuji, Shoji ^a,w   more..

^a UNIVERSITY OF TOKYO   (Japan)

^b UNIVERSITY OF TOKYO   (Japan)

^c NATIONAL INSTITUTE OF GENETICS   (Japan)

^d UNIVERSITY OF TURKU   (Finland)

^e Turku Doctoral Programme of Biomedical Sciences   (Finland)

^f EHIME UNIVERSITY HOSPITAL   (Japan)

^g UNIVERSITY OF MONTREAL   (Canada)

^h UNIVERSITÉ DE MONTRÉAL   (Canada)

ⁱ National Hospital Organization Ehime Medical Center   (Japan)

^j OSAKA MEDICAL COLLEGE   (Japan)

^k Tokyo Metropolitan Institute of Gerontology   (Japan)

^l Niigata University   (Japan)

^m AICHI MEDICAL UNIVERSITY   (Japan)

ⁿ NAGOYA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^o Japanese Consortium for Amyotrophic Lateral Sclerosis Research   (Japan)

^p ANZAC RESEARCH INSTITUTE   (Australia)

^q UNIVERSITY OF SYDNEY   (Australia)

^r MACQUARIE UNIVERSITY   (Australia)

^s UNIVERSITY OF MASSACHUSETTS MEDICAL SCHOOL   (United States)

^t TURKU UNIVERSITY HOSPITAL   (Finland)

^u MCGILL UNIVERSITY   (Canada)

^v MCGILL UNIVERSITY   (Canada)

^w UNIVERSITY OF TOKYO HOSPITAL   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID; EPIDERMAL GROWTH FACTOR RECEPTOR 4; NEU DIFFERENTIATION FACTOR; PROTEIN TYROSINE KINASE;

AGED; AMINO ACID SUBSTITUTION; AMYOTROPHIC LATERAL SCLEROSIS; ARTICLE; AUTOPHOSPHORYLATION; AUTOSOMAL DOMINANT INHERITANCE; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CLINICAL FEATURE; COGNITIVE DEFECT; GENE MUTATION; GENE SEQUENCE; GENOME; HUMAN; JAPANESE; LINKAGE ANALYSIS; MOTONEURON; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN DOMAIN;

EID: 84890439549     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.09.008     Document Type: Article

References (21)

1. Al-Chalabi, A., Jones, A., Troakes, C., King, A., Al-Sarraj, S., and van den Berg, L.H. (2012). The genetics and neuropathology of amyotrophic lateral sclerosis. Acta Neuropathol. 124, 339-352
2. Andersen, P.M., and Al-Chalabi, A. (2011). Clinical genetics of amyotrophic lateral sclerosis: what do we really know? Nat Rev Neurol 7, 603-615
3. Takahashi, Y., Seki, N., Ishiura, H., Mitsui, J., Matsukawa, T., Kishino, A., Onodera, O., Aoki, M., Shimozawa, N., Murayama, S., et al. (2008). Development of a highthroughput microarray-based resequencing system for neurological disorders and its application to molecular genetics of amyotrophic lateral sclerosis. Arch. Neurol. 65, 1326-1332
4. Ishiura, H., Takahashi, Y., Mitsui, J., Yoshida, S., Kihira, T., Kokubo, Y., Kuzuhara, S., Ranum, L.P., Tamaoki, T., Ichikawa, Y., et al. (2012). C9ORF72 repeat expansion in amyotrophic lateral sclerosis in the Kii peninsula of Japan. Arch. Neurol. 69,1154-1158
5. Li, H., and Durbin, R. (2009). Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754-1760
6. Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N.,Marth, G.,Abecasis,G.,andDurbin, R.;1000GenomeProject Data Processing Subgroup. (2009). The Sequence Alignment/ Map format and SAMtools. Bioinformatics 25, 2078-2079
7. Robinson, J.T., Thorvaldsdóttir, H., Winckler, W., Guttman, M., Lander, E.S., Getz, G., and Mesirov, J.P. (2011). Integrative genomics viewer. Nat. Biotechnol. 29, 24-26
8. Fukuda, Y., Nakahara, Y., Date, H., Takahashi, Y., Goto, J., Miyashita, A., Kuwano, R., Adachi, H., Nakamura, E., and Tsuji, S. (2009). SNP HiTLink: a high-throughput linkage analysis system employing dense SNP data. BMC Bioinformatics 10, 121
9. Gudbjartsson, D.F., Thorvaldsson, T., Kong, A., Gunnarsson, G., and Ingolfsdottir, A. (2005). Allegro version 2. Nat. Genet. 37, 1015-1016
10. Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M.A., Bender, D., Maller, J., Sklar, P., de Bakker, P.I., Daly, M.J., and Sham, P.C. (2007). PLINK: a tool set for wholegenome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559-575
11. Kong, A., Frigge, M.L., Masson, G., Besenbacher, S., Sulem, P., Magnusson, G., Gudjonsson, S.A., Sigurdsson, A., Jonasdottir, A., Jonasdottir, A., et al. (2012). Rate of de novo mutations and the importance of father's age to disease risk. Nature 488,471-475
12. Sanders, S.J., Murtha, M.T., Gupta, A.R., Murdoch, J.D., Raubeson, M.J., Willsey, A.J., Ercan-Sencicek, A.G., DiLullo, N.M., Parikshak, N.N., Stein, J.L., et al. (2012). De novo mutations revealed by whole-exome sequencing are strongly associated with autism. Nature 485, 237-241
13. Plowman, G.D., Green, J.M., Culouscou, J.M., Carlton, G.W., Rothwell, V.M., and Buckley, S. (1993). Heregulin induces tyrosine phosphorylation of HER4/p180erbB4. Nature 366, 473-475
14. Carpenter, G. (2003). ErbB-4: mechanism of action and biology. Exp. Cell Res. 284, 66-77
15. Sundvall, M., Korhonen, A., Vaparanta, K., Anckar, J., Halkilahti, K., Salah, Z., Aqeilan, R.I., Palvimo, J.J., Sistonen, L., and Elenius, K. (2012). Protein inhibitor of activated STAT3 (PIAS3) protein promotes SUMOylation and nuclear sequestration of the intracellular domain of ErbB4 protein. J. Biol. Chem. 287, 23216-23226
16. Pearson, R.J., Jr., and Carroll, S.L. (2004). ErbB transmembrane tyrosine kinase receptors are expressed by sensory and motor neurons projecting into sciatic nerve. J. Histochem. Cytochem. 52, 1299-1311
17. Gassmann, M., Casagranda, F., Orioli, D., Simon, H., Lai, C., Klein, R., and Lemke, G. (1995). Aberrant neural and cardiac development in mice lacking the ErbB4 neuregulin receptor. Nature 378, 390-394
18. Golub, M.S., Germann, S.L., and Lloyd, K.C.K. (2004). Behavioral characteristics of a nervous system-specific erbB4 knockout mouse. Behav. Brain Res. 153, 159-170
19. Wolpowitz, D., Mason, T.B., Dietrich, P., Mendelsohn, M., Talmage, D.A., and Role, L.W. (2000). Cysteine-rich domain isoforms of the neuregulin-1 gene are required for maintenance of peripheral synapses. Neuron 25, 79-91
20. Yang, X., Arber, S.,William, C., Li, L., Tanabe, Y., Jessell, T.M., Birchmeier, C., and Burden, S.J. (2001). Patterning of muscle acetylcholine receptor gene expression in the absence of motor innervation. Neuron 30, 399-410
21. Song, F., Chiang, P., Wang, J., Ravits, J., and Loeb, J.A. (2012). Aberrant neuregulin 1 signaling in amyotrophic lateral sclerosis. J. Neuropathol. Exp. Neurol. 71, 104-115