Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2)

Human Molecular Genetics

Volumn 13, Issue 4, 2004, Pages 367-378

  Walz, Katherine ^a   Spencer, Corinne ^a   Kaasik, Krista ^a   Lee, Cheng C ^a   Lupski, James R ^a,b   Paylor, Richard ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b TEXAS CHILDREN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANIMAL BEHAVIOR; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BEHAVIOR DISORDER; CHROMOSOME 11; CHROMOSOME 17P; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CIRCADIAN RHYTHM; CONDITIONING; CONTROLLED STUDY; FEAR; FEMALE; GENE DELETION; GENE DOSAGE; GENE NUMBER; GENETIC ENGINEERING; HETEROZYGOSITY; HYPERACTIVITY; MALE; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; SMITH MAGENIS SYNDROME; SYNTENY;

ANIMALS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 17; DISEASE MODELS, ANIMAL; FEMALE; GENE DELETION; GENE DUPLICATION; HUMANS; MALE; MENTAL DISORDERS; MICE; MICE, INBRED C57BL; MODELS, GENETIC; SYNDROME;

ANIMALIA;

EID: 1242330479     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddh044     Document Type: Article

References (30)

1. Inoue, K. and Lupski, J.R. (2003) Genetics and genomics of behavioral and psychiatric disorders. Curr. Opin. Genet. Dev., 13, 303-309.
2. Shaffer, L.G., Ledbetter, D.H. and Lupski, J.R. (2001) Molecular Cytogenetics of contiguous genes syndromes: mechanisms and consequences of gene dosage imbalance. In The Metabolic and Molecular Bases of Inherited Disease, 8th edn, Vol. I. McGraw-Hill, New York, pp. 1291-1327.
3. Greenberg, F., Guzzetta, V., Montes de Oca-Luna, R., Magenis, R.E., Smith, A.C., Richter, S.F., Kondo, I., Dobyns, W.B., Patel, P.I. and Lupski, J.R. (1991) Molecular analysis of the Smith - Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p 11.2). Am. J. Hum. Genet., 49, 1207-1218.
4. Greenberg, F., Lewis, R.A., Potocki, L., Glaze, D., Parke, J., Killian, J., Murphy, M.A., Williamson, D., Brown, F., Dutton, R. et al. (1996) Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2). Am. J. Med. Genet., 62, 247-254.
5. Colley, A.F., Leversha, L.E., Voullaire, L.E. and Rogers, J.G. (1990) Five cases demonstrating the distinctive behavioral features of chromosome deletion 17(p11.2p11.2) (Smith-Magenis Syndrome). J. Pediatr. Child Health, 26, 17-21.
6. Dykens, E.M., Finucane, B.M. and Gayley, C. (1997) Cognitive and behavioral profiles in persons with Smith-Magenis syndrome. J. Autism Dev. Disord., 27, 203-211.
7. Smith, A.C., Dykens, E. and Greenberg, F. (1998) Behavioral phenotype of Smith-Magenis syndrome (del 17p11.2). Am. J. Med. Genet., 81, 179-185.
8. Finucane, B.M., Konar, D., Haas-Givler, B., Kurtz, M.B. and Scott, C.I. Jr (1994) The spasmodic upper-body squeeze: a characteristic behavior in Smith-Magenis syndrome. Dev. Med. Child Neurol., 36, 78-83.
9. Smith, A.C., Dykens, E. and Greenberg, F. (1998) Sleep disturbance in Smith-Magenis syndrome (del 17 p11.2). Am. J. Med. Genet., 81, 186-191.
10. Potocki, L., Glaze, D., Tan, D.X., Park, S.S., Kashork, C.D., Shaffer, L.G., Reiter, R.J. and Lupski, J.R. (2000) Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome. J. Med. Genet., 37, 428-433.
11. De Leersnyder, H., De Blois, M.C., Claustrat, B., Romana, S., Albrecht, U., Von Kleist-Retzow, J.C., Delobel, B., Viot, G., Lyonnet, S., Vekemans, M. and Munnich, A. (2001) Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome. J. Pediatr., 139, 111-116.
12. De Leersnyder, H., de Blois, M.C., Vekemans, M., Sidi, D., Villain, E., Kindermans, C. and Munnich, A. (2001) beta(1)-adrenergic antagonists improve sleep and behavioral disturbances in a circadian disorder, Smith-Magenis syndrome. J. Med. Genet., 38, 586-590.
13. Chen, K.-S., Manian, P., Koeuth, T., Potocki, L., Zhao, Q., Chinault, A.C., Lee, C.C. and Lupski, J.R. (1997) Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome. Nat. Genet., 17, 154-163.
14. Park, S.S., Stankiewicz, P., Bi, W., Shaw, C., Lehoczky, J., Dewar, K., Birren, B. and Lupski, J.R. (2002) Structure and evolution of the Smith-Magenis syndrome repeat gene clusters, SMS-REPs. Genome Res., 12, 729-738.
15. Potocki, L., Chen, K.-S., Park, S.S., Osterholm, D.E., Withers, M.A., Kimonis, V., Summers, A.M., Meschino, W.S., Anyane-Yeboa, K., Kashork, C.D., Shaffer, L.G. and Lupski, J.R. (2000) Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat. Genet., 24, 84-87.
16. Bi, W., Yan, J., Stankiewicz, P., Park, S.S., Walz, K., Boerkoel, C.F., Potocki, L., Shaffer, L.G., Devriendt, K., Nowaczyk, M.J., Inoue, K. and Lupski, J.R. (2002) Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse. Genome Res., 12, 713-728.
17. Walz, K., Caratini-Rivera, S., Bi, W., Fonseca, P., Mansouri, D.L., Lynch, J., Vogel, H., Noebels, J.L., Bradley, A. and Lupski, J.R. (2003) Modeling del(17)(p11.2p11.2) and dup(17)(p11.2p11.2) contiguous gene syndromes by chromosome engineering in mice: phenotypic consequences of gene dosage imbalance. Mol. Cell. Biol., 23, 3646-3655.
18. Schwartz, W.J. and Zimmerman, P. (1990) Circadian timekeeping in BALB/c and C57BL/6 inbred mouse strains. J. Neurosci., 11, 3685-3694.
19. Ogdie, M.N., Macphie, I.L., Minassian, S.L., Yang, M., Fisher, S.E., Francks, C., Cantor, R.M., McCracken, J.T., McGough, J.J., Nelson, S.F., Monaco, A.P. and Smalley, S.L. (2003) A genomewide scan for attention-deficit/hyperactivity disorder in an extended sample: suggestive linkage on 17p11. Am. J. Hum. Genet., 72, 1268-1279.
20. Cantwell, D.P. (1996) Attention deficit disorder: a review of the past 10 years. J. Am. Acad. Child Adolesc. Psychiat., 35, 978-987.
21. Swanson, J.M., Sergeant, J.A., Taylor, E., Sonuga-Barke, E.J., Jensen, P.S. and Cantwell, D.P. (1998) Attention-deficit hyperactivity disorder and hyperkinetic disorder. Lancet, 351, 429-433.
22. Weaver, D.R. (1998) The suprachiasmatic nucleus: a 25-year retrospective. J. Biol. Rhythms, 13, 100-112.
23. Lucas, R.E., Vlangos, C.N., Das, P., Patel, P.I. and Elsea, S.H. (2001) Genomic organization of the ∼1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis. Eur. J. Hum. Genet., 9, 892-902.
24. Takahashi, H., Umeda, N., Tsutsumi, Y., Fukumura, R., Ohkaze, H., Sujino, M., van der Horst, G., Yasui, A., Inouye, S.T., Fujimori, A., Ohhata, T., Araki, R. and Abe, M. (2003) Mouse dexamethasone-induced RAS protein 1 gene is expressed in a circadian rhythmic manner in the suprachiasmatic nucleus. Brain Res. Mol. Brain Res., 110, 1-6.
25. Slager, R.E., Newton, T.L., Vlangos, C.N., Finucane, B. and Elsea, S.H. (2003) Mutations in RAI1 associated with Smith-Magenis syndrome. Nat. Genet., 33, 466-468.
26. Sazuka, T., Tomooka, Y., Ikawa, Y., Noda, M. and Kumar, S. (1992) DRG: a novel developmentally regulated GTP-binding protein. Biochem. Biophys. Res. Commun., 189, 363-370.
27. Zhao, Q., Chen, K.-S., Bejjani, B.A. and Lupski, J.R. (1998) Cloning, genomic structure, and expression of mouse ring finger protein gene Znf179. Genomics, 49, 394-400.
28. Crawley, J.N. and Paylor, R. (1997). A proposed test battery and constellations of specific behavioral paradigms to investigate behavioral phenotypes of transgenic and knockout mice. Horm. Behav., 31, 197-211.
29. Paylor, R. and Crawley, J.N. (1997) Inbred strain differences in prepulse inhibition of the mouse startle response. Psychopharmacology, 132, 169-180.
30. Sokolove, P.G. and Bushell, W.N. (1978) The chi square periodogram: its utility for analysis of circadian rhythms. J. Theor. Biol., 72, 131-160.