An ENU-induced mutation of Nrg1 causes dilated pupils and a reduction in muscarinic receptors in the sphincter pupillae

PLoS ONE

Volumn 6, Issue 9, 2011, Pages

  Chen, Bing ^a   Li, Ke ^a   Zhang, Fenli ^a   Zhai, Guoqin ^a   Gong, Wen ^a   Qiang, Sujing ^a   Xue, Zhengfeng ^a  

^a YANGZHOU UNIVERSITY   (China)

Author keywords

[No Author keywords available]

Indexed keywords

EPIDERMAL GROWTH FACTOR; ETHYLNITROSOUREA; ISOPROTEIN; MESSENGER RNA; MUSCARINIC RECEPTOR; NEU DIFFERENTIATION FACTOR; NRG1 PROTEIN, MOUSE;

ALLELE; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; DP1 GENE; EXON; GENE; GENE MUTATION; HETEROZYGOTE; HOMOZYGOTE; INHERITANCE; MOUSE; MUTAGENESIS; MYDRIASIS; NONHUMAN; NRG1 GENE; NUCLEIC ACID BASE SUBSTITUTION; PENETRANCE; PHENOTYPE; PROTEIN DOMAIN; PROTEIN EXPRESSION; SEQUENCE ANALYSIS; SPHINCTER PUPILLAE MUSCLE; ANIMAL; C3H MOUSE; C57BL MOUSE; CHEMICALLY INDUCED DISORDER; DBA MOUSE; ENZYME IMMUNOASSAY; FEMALE; GENETICS; HUMAN; MALE; METABOLISM; MUTATION; NUCLEOTIDE SEQUENCE; PHYSIOLOGY; PUPIL DISEASE; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING;

MUS;

ANIMALS; DNA MUTATIONAL ANALYSIS; ETHYLNITROSOUREA; FEMALE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; IMMUNOENZYME TECHNIQUES; MALE; MICE; MICE, INBRED C3H; MICE, INBRED C57BL; MICE, INBRED DBA; MUTAGENESIS; MUTATION; NEUREGULIN-1; PHENOTYPE; PUPIL DISORDERS; RECEPTORS, MUSCARINIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICE SITES; RNA, MESSENGER;

EID: 80052898518     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0025176     Document Type: Article

References (24)

1. Justice MJ, Noveroske JK, Weber JS, Zheng B, Bradley A, (1999) Mouse ENU mutagenesis. Hum Mol Genet 8: 1955-1963.
2. Hrabé de Angelis MH, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, et al. (2000) Genome-wide, large-scale production of mutant mice by ENU mutagenesis. Nat Genet 25: 444-447.
3. Balling R, (2001) ENU mutagenesis: analyzing gene function in mice. Annu Rev Genomics Hum Genet 2: 463-492.
4. Nolan PM, Peters J, Strivens M, Rogers D, Hagan J, et al. (2000) A systematic, genome-wide, phenotype-driven mutagenesis programme for gene function studies in the mouse. Nat Genet 25: 440-443.
5. Thaung C, West K, Clark BJ, McKie L, Morgan JE, et al. (2002) Novel ENU-induced eye mutations in the mouse: models for human eye disease. Hum Mol Genet 11: 755-780.
6. Busfield SJ, Michnick DA, Chickering TW, Revett TL, Ma J, et al. (1997) Characterization of a neuregulin-related gene, Don-1, that is highly expressed in restricted regions of the cerebellum and hippocampus. Mol Cell Biol 17: 4007-4014.
7. Carraway KL 3rd, Weber JL, Unger MJ, Ledesma J, Yu N, et al. (1997) Neuregulin-2, a new ligand of ErbB3/ErbB4-receptor tyrosine kinases. Nature 387: 512-516.
8. Falls DL, (2003) Neuregulins: functions, forms, and signaling strategies. Exp Cell Res 284: 14-30.
9. Fischbach GD, Rosen KM, (1997) ARIA: a neuromuscular junction neuregulin. Annu Rev Neurosci 20: 429-458.
10. Harari D, Tzahar E, Romano J, Shelly M, Pierce JH, et al. (1999) Neuregulin-4: a novel growth factor that acts through the ErbB-4 receptor tyrosine kinase. Oncogene 18: 2681-2689.
11. Zhang D, Sliwkowski MX, Mark M, Frantz G, Akita R, et al. (1997) Neuregulin-3 (NRG3): a novel neural tissue-enriched protein that binds and activates ErbB4. Proc Natl Acad Sci U S A 94: 9562-9567.
12. Chen YJ, Johnson MA, Lieberman MD, Goodchild RE, Schobel S, et al. (2008) Type III neuregulin-1 is required for normal sensorimotor gating, memory-related behaviors, and corticostriatal circuit components. J Neurosci 28: 6872-6883.
13. Harrison PJ, Law AJ, (2006) Neuregulin 1 and schizophrenia: genetics, gene expression, and neurobiology. Biol Psychiatry 60: 132-140.
14. Steinthorsdottir V, Stefansson H, Ghosh S, Birgisdottir B, Bjornsdottir S, et al. (2004) Multiple novel transcription initiation sites for NRG1. Gene 342: 97-105.
15. Kramer R, Bucay N, Kane DJ, Martin LE, Tarpley JE, et al. (1996) Neuregulins with an Ig-like domain are essential for mouse myocardial and neuronal development. Proc Natl Acad Sci USA 93: 4833-4838.
16. Meyer D, Birchmeier C, (1995) Multiple essential functions of neuregulin in development. Nature 378: 386-390.
17. Wolpowitz D, Mason TB, Dietrich P, Mendelsohn M, Talmage DA, et al. (2000) Cysteine-rich domain isoforms of the neuregulin-1 gene are required for maintenance of peripheral synapses. Neuron 25: 79-91.
18. Matsui M, Motomura D, Karasawa H, Fujikawa T, Jiang J, et al. (2000) Multiple functional defects in peripheral autonomic organs in mice lacking muscarinic acetylcholine receptor gene for the M3 subtype. Proc Natl Acad Sci USA 97: 9579-9584.
19. Matsui M, Motomura D, Fujikawa T, Jiang J, Takahashi S, et al. (2002) Mice lacking M2 and M3 muscarinic acetylcholine receptors are devoid of cholinergic smooth muscle contractions but still viable. J Neurosci 22: 10627-10632.
20. Davis-Silberman N, Ashery-Padan R, (2008) Iris development in vertebrates; genetic and molecular considerations. Brain Res 1192: 17-28.
21. Pilar G, Nuñez R, McLennan IS, Meriney SD, (1987) Muscarinic and nicotinic synaptic activation of the developing chicken iris. J Neurosci 7: 3813-3826.
22. Hill CE, Klemm M, Edwards FR, Hirst GD, (1993) Sympathetic transmission to the dilator muscle of the rat iris. J Auton Nerv Syst 45: 107-123.
23. Falls DL, Rosen KM, Corfas G, Lane WS, Fischbach GD, (1993) ARIA, a protein that stimulates acetylcholine receptor synthesis, is a member of the neu ligand family. Cell 72: 801-815.
24. Sandrock AW Jr, Dryer SE, Rosen KM, Gozani SN, Kramer R, et al. (1997) Maintenance of acetylcholine receptor number by neuregulins at the neuromuscular junction in vivo. Science 276: 599-603.