Leung WC, Hessel S, Méplan C, et al. Two common single nucleotide polymorphisms in the gene encoding beta-carotene 15,15'-monoxygenase alter beta-carotene metabolism in female volunteers
FASEB J 2009 Apr;23(4):1041-1053.
PMID: 19103647
doi:10.1096/fj.08-121962
http://www.fasebj.org/cgi/content/abstract/23/4/1041
http://www.fasebj.org/cgi/content/full/23/4/1041
http://www.fasebj.org/cgi/reprint/23/4/1041.pdf
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FASEB J. 2009 Apr;23(4):1041-53. Epub 2008 Dec 22.
Two common single nucleotide polymorphisms in the gene encoding beta-carotene 15,15'-monoxygenase alter beta-carotene metabolism in female volunteers.
Leung WC, Hessel S, Méplan C, Flint J, Oberhauser V, Tourniaire F, Hesketh JE, von Lintig J, Lietz G.
Human Nutrition Research Centre, Newcastle University, Newcastle upon Tyne, UK.
The key enzyme responsible for beta-carotene conversion into retinal is beta-carotene 15,15'-monoxygenase (BCMO1). Since it has been reported that the conversion of beta-carotene into vitamin A is highly variable in up to 45% of healthy individuals, we hypothesized that genetic polymorphisms in the BCMO1 gene could contribute to the occurrence of the poor converter phenotype. Here we describe the screening of the total open reading frame of the BCMO1 coding region that led to the identification of two common nonsynonymous single nucleotide polymorphisms (R267S: rs12934922; A379V: rs7501331) with variant allele frequencies of 42 and 24%, respectively. In vitro biochemical characterization of the recombinant 267S + 379V double mutant revealed a reduced catalytic activity of BCMO1 by 57% (P
PMID: 19103647