Gene Locus : human-BCHE

Mode of mutation : Natural mutant

Disease :

Summary : Natural mutation Silent variant Muratani_1991_Proc.Natl.Acad.Sci.U.S.A_88_11315

AAA Change :

Allelic Variant :

Risk Factor :

Inhibitor :

Structure :

Disease by interaction :

Interact Gene Locus :

Xenobiotic sensitivity : Defect in Suxamethonium hydrolysis

Modification : Silent variant Natural mutation

Torpedo_number : No torpedo number

Kinetic Parameter : No kinetic parameter

News : No news

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.

References (1)

Title : Inactivation of the cholinesterase gene by Alu insertion: possible mechanism for human gene transposition - Muratani_1991_Proc.Natl.Acad.Sci.U.S.A_88_11315
Author(s) : 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
Abstract :
PubMedSearch : Muratani_1991_Proc.Natl.Acad.Sci.U.S.A_88_11315
PubMedID: 1662391