ISSN:
1573-4986
Keywords:
secretor
;
fucosyltransferase
;
Lewis a
;
Lewis b
;
saliva ABH
;
blood group
;
FUT2
;
ABO
;
Polynesia
Source:
Springer Online Journal Archives 1860-2000
Topics:
Chemistry and Pharmacology
Notes:
Abstract TheSe wA385T mutation of the FUT2 gene was found to correlate with both the erthrocyte Le(a+b+) and/or salivary ABH partial-secretor phenotypes of Polynesians. Constructs with FUT1 and FUT2 wild type genes, and the FUT2Se wA385T,se G428A andse C571T mutated alleles, were cloned into pcDNAI, and expressed in COS-7 cells. COS-7 cells transfected with theSe wA385T allele had weak, but detectable, α(1,2)fucosyltransferase activity, with an acceptor substrate pattern similar to the wild type FUT2 gene. Comparative kinetic studies from cell extracts with mutatedSe wA385T and wild type FUT2 alleles gave similarK m values, but less enzyme activity was present in cells transfected withSe wA385T (V max 230 pmol h−1 mg−1), as compared to those transfected with FUT2 (V max 1030 pmol h−1 mg−1), suggesting that the mutated enzyme is more unstable. These results confirm that the molecular basis for the erythrocyte Le(a+b+) and the associated ABH salivary partial-secretor phenotype, is an amino acid change of Ile 129→Phe in the secretor α(1,2)fucosyltransferase.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01053194
Permalink