A candidate model for Angelman syndrome in the mouse

Mammalian Genome

Volumn 8, Issue 7, 1997, Pages 472-478

  Cattanach, Bruce M ^a   Barr, J A ^a   Beechey, C V ^a   Martin, J ^b   Noebels, J ^c   Jones, J ^a  

^a MRC MAMMALIAN GENETICS UNIT   (United Kingdom)

^b ROYAL LONDON HOSPITAL   (United Kingdom)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIGEN; SM NUCLEAR ANTIGENS; SMALL NUCLEAR RIBONUCLEOPROTEIN;

ANEUPLOIDY; ANIMAL; ANIMAL BEHAVIOR; ARTICLE; BRAIN; DISEASE MODEL; ELECTROENCEPHALOGRAPHY; EMBRYO; FEMALE; GENE TRANSLOCATION; GENETICS; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; HUMAN; MALE; METHODOLOGY; MOUSE; MOUSE MUTANT; NEWBORN; OBESITY; ORGAN SIZE; PATERNITY; PATHOPHYSIOLOGY; PHENOTYPE; PHYSIOLOGY;

ANEUPLOIDY; ANGELMAN SYNDROME; ANIMALS; ANIMALS, NEWBORN; AUTOANTIGENS; BEHAVIOR, ANIMAL; BRAIN; DISEASE MODELS, ANIMAL; ELECTROENCEPHALOGRAPHY; EMBRYO; FEMALE; GENOMIC IMPRINTING; HUMANS; MALE; MICE; MICE, MUTANT STRAINS; OBESITY; ORGAN SIZE; PATERNITY; PHENOTYPE; RIBONUCLEOPROTEINS, SMALL NUCLEAR; TRANSLOCATION, GENETIC;

ANIMALIA;

EID: 0031177936     PISSN: 09388990     EISSN: None     Source Type: Journal    
DOI: 10.1007/s003359900479     Document Type: Article

References (40)

1. Barr J, Jones J, Beechey C, Cattanach B (1993) Imprinting studies of the central region of mouse chromosome 7. Genet Res 61, 137-150
2. Beechey CV (1996) Maps of chromosome anomalies in the mouse. Mouse Genome 94, 74-96
3. Beechey CV, Ball S, Townsend S, Jones J (1997) The mouse Chromosome 7 distal imprinting domain maps to G bands F4/F5. Mamm Genome (in press)
4. Buiting K, Saitoh S, Gross S, Dittrich B, Schwartz S, Nicholls RD, Horsthemke B (1995) Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting centre on human chromosome 15. Nature Genet 9, 395-400
5. Butler MG, Palmer CG (1983) Parental origin of chromosome 15 deletion in Prader-Willi syndrome. The Lancet I, 1285-1286
6. Cattanach BM (1961) A chemically-induced variegated-type position effect in the mouse. Z Verebungsl 92, 165-182
7. Cattanach BM, Beechey CV (1997) Genomic imprinting in the mouse: possible final analysis. In Genomic Imprinting: Frontiers in Molecular Biology Vol. 18. W Reik and W.S. Surani (eds) (Oxford: IRL Press) in press
8. Cattanach BM, Barr JA, Evans EP, Burtenshaw M, Beechey CV, Leff SE, Brannan CI, Copeland N, Jenkins NA, Jones J (1992) A candidate mouse model for Prader-Willi syndrome which shows an absence of Snrpn expression. Nature Genet 2, 270-274
9. Clayton-Smith J (1992) Angelman's syndrome. Arch Dis Child 67, 889-890
10. Driscoll DJ, Waters MF, Williams CA, Zori RT, Glenn CC, Avidano KM, Nicholls RD (1992) A DNA methylation imprint, determined by the sex of the parent, distinguishes the Angelman and Prader-Willi syndromes, Genomics 13, 917-924
11. Friede RL (1989) Developmental Neuropathology (2nd ed) (Berlin: Springer-Verlag)
12. Glenn CC, Porter KA, Jong MTC, Nicholls RD, Driscoll DJ (1993) Functional imprinting and epigenetic modification of the human SNRPN gene. Hum Mol Genet 2, 2001-2005
13. Hamabe J, Kuroki Y, Imaizumi K, Sugimoto T, Fukushima Y, Yamaguchi A, Kumikawa Y, Niikawa N (1991) DNA deletion and its parental origin in Angelman syndrome patients. Am J Med Genet 41, 64-68
14. Holm VA, Cassidy SB, Butler MG, Hanchett J, Greenswag LR, Whitman BY, Greenberg F (1993) Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 91, 398-402
15. Jay V, Becker LE, Chan FW, Perry TLS (1991) Puppet-like syndrome of Angelman: a pathologic and neurochemical study. Neurology 41, 416-422
16. Knoll JHM, Nicholls RD, Magenis RE, Graham JM, Lalande M, Latt SA (1989) Angelman and Prader-Willi syndrome share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet 32, 285-290
17. Leff, SE, Brannan CI, Reed ML, Ozçelik T, Francke U, Copeland NG, Jenkins NA (1992) Maternal imprinting of the mouse Snrpn gene and conserved linkage homology with Prader-Willi syndrome region of humans. Nature Genet 2, 259-264
18. Malcolm S, Clayton-Smith J, Nichols M, Robb S, Webb T, Armour JAL, Jeffreys AJ, Pembrey ME (1991) Uniparental paternal disomy in Angelman's syndrome, Lancet 337, 694-697
19. Mascari MJ, Gottlieb W, Rogan PK, Butler MG, Waller DA, Armour JAL, Jeffreys AJ, Ladda RL, Nicholls RD (1992) The frequency of uniparental disomy in Prader-Willi syndrome. N Engl J Med 326, 1599-1607
20. Matsumoto A, Kumagai T, Miura K, Miyazaki S, Hayakawa C, Yamanaka T (1992) Epilepsy in Angelman syndrome associated with chromosome 15q deletion. Epilepsia 33, 1083-1090
21. Nicholls RD, Knoll JHM, Butler MG, Karam S, Lalande M (1989) Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature 342, 281-285
22. Nicholls RD, Gottlieb W, Russell LB, Davda M, Horsthemke B, Rinchik EM (1993) Evaluation of potential models for imprinted and nonimprinted components of human chromosome 15q11-q13 syndromes by fine-structure homology mapping in the mouse. Proc Nat Acad Sci USA 90, 2050-2054
23. Nicholls RD, Bailin T, Mascari MJ, Butler MG, Spritz RA (1996) Hypopigmentation in the Prader-Willi syndrome correlates with P gene deletion but not with haplotype of the hemizygous P allele. Am J Hum Genet 59 Suppl, A39
24. Noebels JL, Sidman RL (1979) Inherited epilepsy: spike-wave and focal motor seizures in the mutant mouse tottering. Science 204, 1334-1336
25. Pembrey M, Fennell SJ, Van Den Berghe J, Fitchett M, Summers D, Butler L, Clarke C, Griffiths M, Thompson E, Super M, Baraitser M (1989) The association of Angelman's syndrome with deletions with 15q11-13. J Med Genet 26, 73-77
26. Reed ML, Leff SE (1994) Maternal imprinting of human SNRPN, a gene deleted in Prader-Willi syndrome. Nature Genet 6, 163-167
27. A-receptor β3 subunit gene as the Angelman's syndrome gene. Lancet 341, 122-123
28. Reis A, Dittrich B, Greger V, Buiting K, Lalande M, Gillessen-Kaesback G, Anvret M, Horsthemke B (1994) Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet 54, 741-747
29. Robinson WP, Bottani A, Yagang X, Balakrishman J, Binkert F, Machler M, Prader A, Schinzel A (1991) Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients. Am J Hum Genet 49, 1219-1234
30. Searle AG, Beechey CV (1974) Position of T9H on Chr 7 and assignment to Chr 15. Mouse New Lett 50, 40
31. Searle AG, Beechey CV (1990) Genome imprinting phenomena on mouse chromosome 7. Genet Res 56, 237-244
32. Searle AG, Ford CE, Beechey CV (1971) Meiotic disjunction in mouse translocations and the determination of centromere position. Genet Res 18, 215-235
33. Smith A, Wiles C, Haan E, McGill J, Wallace G, Dixon J, Selby R, Colley A, Marks R, Trent RJ (1996) Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion. J Med Genet 33, 107-112
34. Snell GD (1946) An analysis of translocations in the mouse. Genetics 31, 151
35. Sugimoto T, Yasuhara A, Ohta T, Nishida N, Saitoh S, Hamabe J, Niikawa N (1992) Angelman syndrome in three siblings: characteristic epileptic seizures and ECoG abnormalities. Epilepsia 33, 1078-1082
36. Sutclifte JS, Nakao M, Christian S, Orstavik H, Tommerup N, Ledbetter DH, Beaudet AL (1994) Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region. Nature Genet 8, 52-58
37. Wagstaff J, Chaillet JR, Lalande M (1991) The GABA A receptor beta3 subunit gene: characterization of a human cDNA from chromosome 15q11q13 and mapping to a region of conserved synteny on mouse chromosome 7. Genomics 11, 1071-1078
38. Walsh RN, Cummins RA (1976) The open-field test: a critical review. Psychol Bull 83, 482-504
39. Wevrick R, Kerns JA, Francke U (1994) Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. Hum Mol Genet 3, 1877-1882
40. Williams CA, Zori RT, Stone JW, Gray BA, Cantu ES, Ostrer H (1990) Maternal origin of 15q11-13 deletions in Angelman syndrome suggests a role for genomic imprinting. Am J Med Genet 35, 350-353