| Title : Human butyrylcholinesterase L330I mutation belongs to a fluoride-resistant gene, by expression in human fetal kidney cells - Sudo_1997_Biochem.Biophys.Res.Commun_240_372 |
| Author(s) : Sudo K , Maekawa M , Akizuki S , Magara T , Ogasawara H , Tanaka T |
| Ref : Biochemical & Biophysical Research Communications , 240 :372 , 1997 |
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Abstract :
We noticed a Japanese male showed low serum butyrylcholinesterase (BCHE) activity on health examination. The phenotyping analysis revealed a reduced dibucaine number (DN) and an especially low fluoride number (FN), similar to an FS phenotype. A homozygous missense mutation, a T to A transversion at nucleotide 988, was identified in his BCHE gene. This mutation resulted in the replacement of leucine by isoleucine at codon 330 (L330I). DN and FN of recombinant BCHE(L330I) secreted by human fetal kidney cells were compared to recombinant wild-type(usual gene) BCHE and normal serum BCHE. These results showed this amino acid substitution of BCHE, Leu330 to Ile, really caused the abnormal DN and FN. We conclude that the BCHE L330I mutation is a fluoride-resistant gene, a Japanese type fluoride-resistant gene. |
| PubMedSearch : Sudo_1997_Biochem.Biophys.Res.Commun_240_372 |
| PubMedID: 9388484 |
| Gene_locus related to this paper: human-BCHE |
| Mutation | L330I_human-BCHE |
| Inhibitor | Fluoride |
| Gene_locus | human-BCHE |
Sudo K, Maekawa M, Akizuki S, Magara T, Ogasawara H, Tanaka T (1997)
Human butyrylcholinesterase L330I mutation belongs to a fluoride-resistant gene, by expression in human fetal kidney cells
Biochemical & Biophysical Research Communications
240 :372
Sudo K, Maekawa M, Akizuki S, Magara T, Ogasawara H, Tanaka T (1997)
Biochemical & Biophysical Research Communications
240 :372