" /> UBE3A wt Allele - CISMeF





Preferred Label : UBE3A wt Allele;

NCIt synonyms : Ubiquitin Protein Ligase E3A (Human Papilloma Virus E6-Associated Protein, Angelman Syndrome) wt Allele; HPVE6A; AS; FLJ26981; EPVE6AP; E6AP; E6-AP; ANCR;

NCIt definition : Human UBE3A wild-type allele is located within 15q11-q13 and is approximately 102 kb in length. This allele, which encodes ubiquitin-protein ligase E3A, plays a role in protein turnover by targeting substrate proteins for degradation. Mutations in this gene are associated with Angelman syndrome.;

NCIt note : The inheritance of Angelman syndrome reveals the UBE3A locus is imprinted. Jiang (1998) generated transgenic mice with the maternal or paternal UBE3A genes knocked out and compared them with their wildtype (m /p ) littermates. Mice with paternal deficiency (m /p-) were essentially similar to wt mice. The phenotype of mice with maternal deficiency (m-/p ) resembles that of human AS with motor dysfunction, inducible seizures, and a context-dependent learning deficit. The absence of detectable expression of UBE3a in hippocampal neurons and Purkinje cells in m-/p mice, indicating imprinting with silencing of the paternal allele, correlated well with the neurologic and cognitive impairments. The cytoplasmic abundance of p53 was found to be greatly increased in Purkinje cells and in a subset of hippocampal neurons in m-/p mice, as well as in a deceased AS patient. Jiang suggested that failure of Ube3a to ubiquitinate target proteins and promote their degradation could be a key aspect of the pathogenesis of AS.;

GenBank Accession Number : NM_000462;

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16/05/2024


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