Molecular analysis of Angelman syndrome critical region for detection of new related gene

2001 Fiscal Year Final Research Report Summary

• Project/Area Number: 12672203
• Research Category: Grant-in-Aid for Scientific Research (C)
• Allocation Type: Single-year Grants
• Section: 一般
• Research Field: Human genetics
• Research Institution: University of the Ryukyus
• Principal Investigator: MATSUURA Toshinobu Faculty of Medicine, University of the ryukyus, Department pf Pediatrics, Associate Professor, 医学部, 助教授 (00315467)
• Co-Investigator(Kenkyū-buntansha): TAMURA Toshiya Faculty of Medicine, University of the ryukyus, Department pf Pediatrics, Research associate, 医学部・附属病院, 助手 (70315480)
• Project Period (FY): 2000 – 2001
• Keywords: Angelman syndrome / UBE3A / E6-AP ubiquitin-protein ligase / puffer fish / アンジェルマン症候群 / E6-AP ubiquitin-protein ligase

Research Abstract

Angelman syndrome (AS) is one of anomaly syndromes characterized by mental retardation, seizure, jerky movement and inappropriate laughter. Previously, we revealed that UBE3A (E6-AP ubiquitin-protein ligase gene) located in 15q11-q13 is a candidate gene of AS. However, the unclear relevance of AS symptoms and UBE3A function and the existence of patients without UBE3A mutation suggested that ff more than one gene might participate in pathogenesis of AS. In this study, we attempted to find unknown genes located in the AS region. In order to simplify genetic analysis of the AS region, we adopted puffer fish genome whose size was one-seventh of the human genome. Puffer fish UBE3A and a novel family gene were isolated from puffer fish genomic libraries. In addition, puffer fish SNRPN, IPW, PAR4, and other neighbor genes of UBE3A were also attempted to isolate, We also describe a new simple method to isolate insert ends of huge genomic clone such as YAC using PCR amplification and construction of a new efficient vector for gene trapping.