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http://purl.uniprot.org/citations/11159542http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11159542http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11159542http://www.w3.org/2000/01/rdf-schema#comment"Transcobalamin (TC) is the plasma transporter that delivers vitamin B(12) to cells. We have already reported that HT-29 and Caco-2 cells secrete different TC variants. HT-29 secretes 2 TC isoproteins (codon 259-Pro/Arg [259-P/R]), exhibiting unequal concentrations (TC 259-P > TC 259-R), and Caco-2 cells only secrete the phenotype 259-R. We investigated the relation between phenotypic and genetic TC polymorphism in HT-29 cells transfected with Caco-2 TC complementary DNA and in 159 healthy Caucasians. We found that codon 259-R is buried and, thus, the genetic polymorphism provides no explanation why the TCs from HT-29 and Caco-2 cells have different isoelectric points in nondenaturing isoelectric focusing (IEF). The newly translated TC in HT-29 cells from the Caco-2 complementary DNA recombinant plasmid had the same isoelectric point as the TC constitutively expressed in HT-29 cells, suggesting that TC phenotypic variability involves a specific cell folding of the protein. The codon 259 polymorphism was found to have a biallelic distribution: homozygotes P = 34.6%, heterozygotes R/P = 47.8%, and homozygotes R = 17.6%. In heterozygous samples, the IEF showed that the TC 259-P/TC 259-R ratio = 1.6. The blood apo-TC concentration of 259-P homozygous Caucasians was significantly higher than that of homozygous 259-R (P <.0001) and heterozygous (P <.0006) Caucasians. The heterozygotes 259-R/P had homocysteine concentration significantly higher than the homozygotes 259-R and 259-P (P =.02 and P =.01, respectively). In conclusion, TC codon-259 polymorphism affects TC plasma concentration and may interfere in vitamin B(12) cellular availability and homocysteine metabolism."xsd:string
http://purl.uniprot.org/citations/11159542http://purl.org/dc/terms/identifier"doi:10.1182/blood.v97.4.1092"xsd:string
http://purl.uniprot.org/citations/11159542http://purl.org/dc/terms/identifier"doi:10.1182/blood.v97.4.1092"xsd:string
http://purl.uniprot.org/citations/11159542http://purl.uniprot.org/core/author"Namour F."xsd:string
http://purl.uniprot.org/citations/11159542http://purl.uniprot.org/core/author"Namour F."xsd:string
http://purl.uniprot.org/citations/11159542http://purl.uniprot.org/core/author"Olivier J."xsd:string
http://purl.uniprot.org/citations/11159542http://purl.uniprot.org/core/author"Olivier J."xsd:string
http://purl.uniprot.org/citations/11159542http://purl.uniprot.org/core/author"Abdelmouttaleb I."xsd:string
http://purl.uniprot.org/citations/11159542http://purl.uniprot.org/core/author"Abdelmouttaleb I."xsd:string
http://purl.uniprot.org/citations/11159542http://purl.uniprot.org/core/author"Adjalla C."xsd:string
http://purl.uniprot.org/citations/11159542http://purl.uniprot.org/core/author"Adjalla C."xsd:string
http://purl.uniprot.org/citations/11159542http://purl.uniprot.org/core/author"Debard R."xsd:string
http://purl.uniprot.org/citations/11159542http://purl.uniprot.org/core/author"Debard R."xsd:string
http://purl.uniprot.org/citations/11159542http://purl.uniprot.org/core/author"Gueant J."xsd:string
http://purl.uniprot.org/citations/11159542http://purl.uniprot.org/core/author"Gueant J."xsd:string
http://purl.uniprot.org/citations/11159542http://purl.uniprot.org/core/author"Salvat C."xsd:string
http://purl.uniprot.org/citations/11159542http://purl.uniprot.org/core/author"Salvat C."xsd:string
http://purl.uniprot.org/citations/11159542http://purl.uniprot.org/core/date"2001"xsd:gYear
http://purl.uniprot.org/citations/11159542http://purl.uniprot.org/core/date"2001"xsd:gYear
http://purl.uniprot.org/citations/11159542http://purl.uniprot.org/core/name"Blood"xsd:string
http://purl.uniprot.org/citations/11159542http://purl.uniprot.org/core/name"Blood"xsd:string
http://purl.uniprot.org/citations/11159542http://purl.uniprot.org/core/pages"1092-1098"xsd:string
http://purl.uniprot.org/citations/11159542http://purl.uniprot.org/core/pages"1092-1098"xsd:string