The elusive Angelman syndrome critical region

Journal of Medical Genetics

Volumn 34, Issue 9, 1997, Pages 714-718

  Trent, R J ^a   Sheffield, L J ^b   Deng, Z M ^a   Kim, W S ^a   Nassif, N T ^a   Ryce, C ^a   Woods, C G ^b   Michaelis, R C ^c   Tarleton, J ^c   Smith, A ^d  

^a ROYAL PRINCE ALFRED HOSPITAL   (Australia)

^b MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^c GREENWOOD GENETIC CENTER   (United States)

^d CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

Author keywords

Angelman syndrome; Microsatellites; Recombination; UBE3A

Indexed keywords

MICROSATELLITE DNA;

ADULT; ARTICLE; CHROMOSOME 15Q; CLINICAL ARTICLE; CLINICAL FEATURE; DNA FLANKING REGION; DNA RECOMBINATION; FEMALE; GENE; GENE DELETION; GENE LOCUS; GENE MAPPING; GENETIC MARKER; GENOME IMPRINTING; HAPPY PUPPET SYNDROME; HUMAN; HUMAN CELL; INHERITANCE; MALE; MENTAL DEFICIENCY; PRIORITY JOURNAL; TELOMERE;

RAPHIA FRATER;

EID: 16944363840     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.9.714     Document Type: Article

References (13)

1. American Society of Human Genetics/American College of Medical Genetics Test and Technology Transfer Committee. Diagnostic testing for Prader-Willi and Angelman sydndromes: report of the ASHG/ACMG test and technology transfer committee. Am J Hum Genet 1996;58:1085-8.
2. Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 1997;15:70-3.
3. Matsuura T, Sutcliffe JS, Fang P, et al. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet 1997;15:74-7.
4. Ciechanover A. The ubiquitin-proteasome proteolytic pathway. Cell 1994;79:13-21.
5. Michaelis RC, Skinner SA, Lethco BA, et al. Deletion involving D15S113 in a mother and son without Angelman syndrome: refinement of the Angelman syndrome critical deletion region. Am J Med Genet 1995;55:120-6.
6. Malcolm S, Donlon TA. Report of the second international workshop on human chromosome 15 mapping 1994. Cytogenet Cell Genet 1994;67:1-22.
7. Paldi A, Gyapay G, Jami J. Imprinted chromosomal regions of the human genome display sex-specific meiotic recombination frequencies. Curr Biol 1995;5:1030-5.
8. Glenn CC, Saitoh S, Jong MTC, et al. Gene structure, DNA methylation and imprinted expression of the human SNRPN gene. Am J Hum Genet 1996;58:335-46.
9. Williams CA, Angelman H, Clayton-Smith J, et al. Angelman syndrome: consensus for diagnostic criteria. Am J Med Genet 1995;56:237-8.
10. Mutirangura A, Jayakumar A, Sutcliffe JS, et al. A complete YAC contig of the Prader-Willi/Angelman chromosome region (15q11-q13) and refined localization of the SNRPN gene. Genomics 1993;18:546-52.
11. Yamamoto Y, Huibregtse JM, Howley PM. The human EP-AP gene (UBE3A) encodes three potential protein isoforms generated by differential splicing. Genomics 1997;41:263-6.
12. Greger V, Reis A, Lalande M. The critical region for Angelman syndrome lies between D15S122 and D15S113. Am J Med Genet 1994;53:396-8.
13. Burke LW, Wiley JE, Glenn CC, et al. Familial cryptic translocation resulting in Angelman syndrome: implications for imprinting or location of the Angelman gene? Am J Hum Genet 1996;58:777-84.