Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1993-12-9
pubmed:abstractText
Human alpha (1,3/1,4)fucosyltransferase (FucT-III) genes were cloned from genomic DNAs of seven Lewis negative (Le(a- b-)) individuals. Restriction mapping analyses revealed that an additional Pvu II site was created in the FucT-III genes from Lewis negative individuals. Four of these individuals were shown to be heterozygous for the Pvu II site and three were homozygous for it. The Pvu II site was produced by a single base substitution at the 508 nucleotide of coding sequence, G to A, resulting in the amino acid substitution, Gly to Ser at position 170. Another single base substitution, resulting in the change of Asp to Ala at position 336, was observed in the Lewis negative FucT-III gene which did not have the Pvu II site. The FucT-III enzyme was inactivated by these two mutations resulting in a single amino acid substitution in the catalytic region. All FucT-III genes, regardless of the Pvu II site, from Lewis negative individuals had a single base substitution, the T at position 59 to G, resulting in the change of Leu to Arg at position 20. This mutation, however, was not responsible for FucT-III gene inactivation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0006-291X
pubmed:author
pubmed:issnType
Print
pubmed:day
29
pubmed:volume
196
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
624-31
pubmed:dateRevised
2008-8-15
pubmed:meshHeading
pubmed-meshheading:8240337-Amino Acid Sequence, pubmed-meshheading:8240337-Arginine, pubmed-meshheading:8240337-Base Sequence, pubmed-meshheading:8240337-Binding Sites, pubmed-meshheading:8240337-Blood Grouping and Crossmatching, pubmed-meshheading:8240337-Blotting, Southern, pubmed-meshheading:8240337-Carbohydrate Sequence, pubmed-meshheading:8240337-Chimera, pubmed-meshheading:8240337-Chromosomes, Human, Pair 19, pubmed-meshheading:8240337-Cloning, Molecular, pubmed-meshheading:8240337-DNA, pubmed-meshheading:8240337-DNA Primers, pubmed-meshheading:8240337-Female, pubmed-meshheading:8240337-Fucosyltransferases, pubmed-meshheading:8240337-Genetic Vectors, pubmed-meshheading:8240337-Humans, pubmed-meshheading:8240337-Kinetics, pubmed-meshheading:8240337-Leucine, pubmed-meshheading:8240337-Leukocytes, pubmed-meshheading:8240337-Lewis Blood-Group System, pubmed-meshheading:8240337-Male, pubmed-meshheading:8240337-Molecular Sequence Data, pubmed-meshheading:8240337-Pedigree, pubmed-meshheading:8240337-Point Mutation, pubmed-meshheading:8240337-Polymerase Chain Reaction, pubmed-meshheading:8240337-Transfection
pubmed:year
1993
pubmed:articleTitle
Alpha (1,3/1,4)fucosyltransferase (FucT-III) gene is inactivated by a single amino acid substitution in Lewis histo-blood type negative individuals.
pubmed:affiliation
Division of Cell Biology, Soka University, Tokyo, Japan.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't