Mutation screening and association study of the UBE2H gene on chromosome 7q32 in autistic disorder

Psychiatric Genetics

Volumn 13, Issue 4, 2003, Pages 221-225

  Vourc'h, Patrick ^a   Martin, Isabelle ^a   Bonnet Brilhault, Frédérique ^a   Marouillat, Sylviane ^a   Barthélémy, Catherine ^a   Müh, Jean Pierre ^a   Andres, Christian ^a  

^a INSERM   (France)

Author keywords

Association study; Autistic disorder; Mutation screening; Single strand conformation polymorphism; UBE2H gene

Indexed keywords

DNA; PROTEASOME; RNA; UBIQUITIN CONJUGATING ENZYME; UBIQUITIN PROTEIN LIGASE;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; ANIMAL TISSUE; ARTICLE; AUTISM; CASE CONTROL STUDY; CHILD; CHROMOSOME 7Q; CONTROLLED STUDY; DIAGNOSTIC AND STATISTICAL MANUAL OF MENTAL DISORDERS; DNA SEQUENCE; EXON; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HAPPY PUPPET SYNDROME; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; NONHUMAN; PRIORITY JOURNAL; RAT; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE STRAND CONFORMATION POLYMORPHISM; UBE2H GENE; UBE3A GENE;

EID: 0346961702     PISSN: 09558829     EISSN: None     Source Type: Journal    
DOI: 10.1097/00041444-200312000-00005     Document Type: Article

References (44)

1. Aguilera M, Oliveros M, Martinez-Padron M, Barbas JA, Ferrus A (2000). Ariadne-1: a vital Drosophila gene is required in development and defines a new conserved family of ring-finger proteins. Genetics 155:1231-1244.
2. Ashley-Koch A, Wolpert CM, Menold MM, Zaeem L, Basu S, Donnelly SL, et al. (1999). Genetic studies of autistic disorder and chromosome 7. Genomics 61:227-236.
3. Bailey A, Le Couteur A, Gottesman I, Bolton P, Simonoff E, Yuzda E, et al. (1995). Autism as a strongly genetic disorder: evidence from a British twin study. Psychol Med 25:63-77.
4. Barrett S, Beck JC, Bernier R, Bisson E, Braun TA, Casavant TL, et al. (1999). An autosomal genomic screen for autism. Collaborative Linkage Study of Autism. Am J Med Genet 88:609-615.
5. Barthélémy C, Roux S, Adrien JL, Hameury L, Guérin P, Garreau B, et al. (1997). Validation of the Revised Behavior Summarized Evaluation Scale. J Autism Dev Disord 27:139-153.
6. Blagitko N, Schulz U, Schinzel AA, Ropers HH, Kalscheuer VM (1999). Gamma2-COP, a novel imprinted gene on chromosome 7q32, defines a new imprinting cluster in the human genome. Hum Mol Genet 8:2387-2396.
7. Buxbaum JD, Silverman JM, Smith CJ, Kilifarski M, Reichert J, Hollander E (2001). Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity. Am J Hum Genet 68:1514-1520.
8. Fang P, Lev Lehman E, Tsai TF, Matsuura T, Benton CS, Sutcliffe JS, et al. (1999). The spectrum of mutations in UBE3A causing Angelman syndrome. Hum Mol Genet 8:129-135.
9. Hayashida S, Yamasaki K, Asada Y, Soeda E, Niikawa N, Kishino T (2000). Construction of a physical and transcript map flanking the imprinted MEST/PEG1 region at 7q32. Genomics 66:221-225.
10. Hershko A, Ciechanover A, Varshavsky A (2000). The ubiquitin system. Nat Med 6:1073-1081.
11. Hodges M, Tissot C, Freemont PS (1998). Protein regulation: tag wrestling with relatives of ubiquitin. Curr Biol 8:R749-R752.
12. Huibregtse JM, Scheffner M, Howley PM (1991). A cellular protein mediates association of p53 with the E6 oncoprotein of human papillomavirus types 16 or 18. EMBO J 10:4129-4135.
13. IMGSAC (1998). A full genome screen for autism with evidence for linkage to a region on chromosome 7q. Hum Mol Genet 7:571-578.
14. IMGSAC (2001). Further characterization of the autism susceptibility locus AUTS1 on chromosome 7q. Hum Mol Genet 10:973-982.
15. Jiang YH, Armstrong D, Albrecht U, Atkins CM, Noebels JL, Eichele G, et al. (1998). Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron 21:799-811.
16. Kaiser P, Seufert W, Hofferer L, Kofler B, Sachsenmaier C, Herzog H, et al. (1994). A human ubiquitin-conjugating enzyme homologous to yeast UBC8. J Biol Chem 269:8797-8802.
17. Kishino T, Lalande M, Wagstaff J (1997). UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 15:70-73.
18. Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, Minoshima S, et al. (1998). Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 392:605-608.
19. Leroy E, Boyer R, Auburger G, Leube B, Ulm G, Mezey E, et al. (1998). The ubiquitin pathway in Parkinson's disease. Nature 395:451-452.
20. Liu J, Nyholt DR, Magnussen P, Parano E, Pavone P, Geschwind D, et al. (2001). A genomewide screen for autism susceptibility loci. Am J Hum Genet 69:327-340.
21. Lord C, Rutter M, LeCouteur A (1994). Autism diagnostic interview-revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord 24:659-685.
22. Lord C, Cook E, Leventhal B, Amaral D (2000). Autism spectrum disorders. Neuron 28:355-364.
23. Malzac P, Webber H, Moncla A, Graham JM, Kukolich M, Williams C, et al. (1998). Mutation analysis of UBE3A in Angelman syndrome patients. Am J Hum Genet 62:1353-1360.
24. Matsuura T, Sutcliffe JS, Fang P, Galjaard RJ, Jiang YH, Benton CS, et al. (1997). De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet 15:74-77.
25. Muralidhar MG, Thomas JB (1993). The Drosophila bendless gene encodes a neural protein related to ubiquitin-conjugating enzymes. Neuron 11:253-266.
26. Oh CE, McMahon R, Benzer S, Tanouye MA (1994). Bendless, a Drosophila gene affecting neuronal connectivity, encodes a ubiquitin-conjugating enzyme homolog. J Neurosci 14:3166-3179.
27. Petit E, Hérault J, Raynaud M, Cherpi C, Perrot A, Barthélémy C, et al. (1996). X chromosome and infantile autism. Biol Psychiatry 40:457-464.
28. Philippe A, Martinez M, Guilloud-Bataille M, Gillberg C, Rastam M, Sponheim M, et al. (1999). Genome-wide scan for autism susceptibility genes. Hum Mol Genet 8:805-812.
29. Piccardi MP, Ardau R, Chillotti C, Deleuze JF, Mallet J, Meloni R, et al. (2002). Manic-depressive illness: an association study with the inositol polyphosphate 1-phosphatase and serotonin transporter genes. Psychiatr Genet 12:23-27.
30. Pickles A, Bolton P, Macdonald H, Bailey A, Le Couteur A, Sim CH, et al. (1995). Latent-class analysis of recurrence risks for complex phenotypes with selection and measurement error: a twin and family history study of autism. Am J Hum Genet 57:717-726.
31. Rapin I (1997). Autism. N Engl J Med 10:97-104.
32. Rapin I, Katzman R (1998). Neurobiology of autism. Ann Neurol 43:7-14.
33. Risch N, Spiker D, Lotspeich L, Nouri N, Hinds D, Hallmayer J (1999). A genomic screen of autism: evidence for a multilocus etiology. Am J Hum Genet 65:493-507.
34. Robb SA, Pohl KR, Baraitser M, Wilson J, Brett EM (1989). The 'happy puppet' syndrome of Angelman: review of the clinical features. Arch Dis Child 64:83-86.
35. Sambrook J, Fritsh EF, Maniatis T (1989). Analysis of genomic DNA by Southern hybridization. In: Ford N, Nolan VC, Ferguson M (editors). Molecular Clonings: A Laboratory Manual, 2nd edn, vol. 2. New York: Cold Spring Harbor Laboratory Press; pp. 9.31-9.62.
36. Sangerman J, Kakhniashvili D, Brown A, Shartava A, Goodman SR (2001). Spectrin ubiquitination and oxidative stress: potential roles in blood and neurological disorders. Cell Mol Biol Lett 6:607-636.
37. Schopler E, Reichler RJ, DeVellis RF, Daly K (1980). Toward objective classification of childhood autism: Childhood Autism Rating Scale (CARS). J Autism Dev Disord 10:91-103.
38. Shao Y, Wolpert CM, Raiford KL, Menold MM, Donnelly SL, Ravan SA, et al. (2002). Genomic screen and follow-up analysis for autistic disorder. Am J Med Genet 114:99-105.
39. Steffenburg S, Gillberg CL, Steffenburg U, Kyllerman M (1996). Autism in Angelman syndrome: a population-based study. Pediatr Neurol 14:131-136.
40. Veenstra VanderWeele J, Gonen D, Leventhal BL, Cook EH (1999). Mutation screening of the UBE3A/E6-AP gene in autistic disorder. Mol Psychiatry 4:64-67.
41. Vincent JB, Herbrick JA, Gurling HM, Bolton PF, Roberts W, Scherer SW (2000). Identification of a novel gene on chromosome 7q31 that is interrupted by a translocation breakpoint in an autistic individual. Am J Hum Genet 67:510-514.
42. Wang M, Suzuki T, Kitada T, Asakawa S, Minoshima S, Shimizu N, et al. (2001). Developmental changes in the expression of parkin and UbcR7, a parkin-interacting and ubiquitin-conjugating enzyme, in rat brain. J Neurochem 77:1561-1568.
43. Warburton P, Baird G, Chen W, Morris K, Jacobs BW, Hodgson S, Docherty Z (2000). Support for linkage of autism and specific language impairment to 7q3 from two chromosome rearrangements involving band 7q31. Am J Med Genet 96:228-234.
44. Williams CA, Angelman H, Clayton SJ, Driscoll DJ, Hendrickson JE, Knoll JH, et al. (1995). Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation. Am J Med Genet 56:237-238.