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Mutation Report for: Alu-ins1_human-BCHE

Alu-ins1_human-BCHE
Gene_Locus|human-BCHE
Mode of mutation|Natural mutant
Amino Acid change|
Torpedo number|
Summary|
Comment|-- Paper Maekawa et al. is a different insertion some nucleotide differences (from OMIM) Acholinesterasemia; Muratani et al. (1991) described inactivation of the cholinesterase gene by an Alu insertion. The patient was a 60-year-old Japanese man who was by chance found to have no cholinesterase activity in his serum when he was hospitalized for diabetes mellitus. By using BCHE cDNA as a probe, Muratani et al. (1991) isolated clones from a genomic library constructed from the patient's DNA. Sequencing showed that exon 2 of the BCHE gene was disrupted by a 342-bp Alu insertion. The Alu element included a poly(A) tract of 38 bp and showed 93% sequence homology with a current type of human Alu consensus sequence. The subject was homozygous and the Alu insertion was inherited in his family. It was flanked by 15 bp of target site duplication in exon 2 corresponding to positions 1062-1076 of the cDNA, indicating that the Alu element could have been integrated by retrotransposition.
Kinetic parameters|none


References:
    Title: Inactivation of the cholinesterase gene by Alu insertion: possible mechanism for human gene transposition
    Muratani K, Hada T, Yamamoto Y, Kaneko T, Shigeto Y, Ohue T, Furuyama J, Higashino K
    Ref: Proc Natl Acad Sci U S A, 88:11315, 1991 : PubMed

            




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Mail to: Nicolas Lenfant, Thierry Hotelier, Yves Bourne, Pascale Marchot and Arnaud Chatonnet.
Please cite: Lenfant 2013 Nucleic.Acids.Res. or Marchot Chatonnet 2012 Prot.Pept Lett.
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