PMID- 10211701
OWN - NLM
STAT- MEDLINE
DCOM- 19990607
LR  - 20191024
IS  - 0282-0080 (Print)
IS  - 0282-0080 (Linking)
VI  - 15
IP  - 10
DP  - 1998 Oct
TI  - Significance of each of three missense mutations, G484A, G667A, and G808A,
      present in an inactive allele of the human Lewis gene (FUT3) for
      alpha(1,3/1,4)fucosyltransferase inactivation.
PG  - 961-7
AB  - Recently, we found three novel missense mutations, G484A (Asp162Asn), G667A
      (Gly223Arg), and G808A (Val270Met), present in a Lewis-negative allele
      (le484,667,808) from an African (Xhosa) population. To define the relative
      contribution of each of the three mutations in the le484,667,808 allele for
      inactivation of the FUT3-encoded enzyme, we made chimeric FUT3 containing each of
      the three mutations. A transient expression study indicated that COS7 cells
      transfected with the FUT3 construct containing the G484A mutation expressed the
      Lewis antigen and had about 20% enzyme activity as compared with COS7 cells
      transfected with the wild type FUT3 allele, whereas COS7 cells transfected with
      the FUT3 construct containing either the G667A mutation or the G808A mutation did
      not express the Lewis antigen and showed no detectable
      alpha(1,3/1,4)fucosyltransferase activity. These results suggest that the G667A
      and/or the G808A missense mutations of FUT3 alleles are responsible for the
      inactivation of the FUT3-encoded enzyme.
FAU - Pang, H
AU  - Pang H
AD  - Department of Forensic Medicine, Kurume University School of Medicine, Fukuoka,
      Japan.
FAU - Koda, Y
AU  - Koda Y
FAU - Soejima, M
AU  - Soejima M
FAU - Kimura, H
AU  - Kimura H
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Glycoconj J
JT  - Glycoconjugate journal
JID - 8603310
RN  - 0 (DNA Primers)
RN  - 0 (Recombinant Fusion Proteins)
RN  - EC 2.4.1.- (Fucosyltransferases)
RN  - EC 2.4.1.65 (3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase)
SB  - IM
MH  - *Alleles
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - COS Cells
MH  - DNA Primers
MH  - Fucosyltransferases/*antagonists & inhibitors/chemistry/*genetics
MH  - Humans
MH  - Molecular Sequence Data
MH  - *Mutation, Missense
MH  - Recombinant Fusion Proteins/genetics
MH  - Sequence Homology, Amino Acid
EDAT- 1999/04/22 00:00
MHDA- 1999/04/22 00:01
CRDT- 1999/04/22 00:00
PHST- 1999/04/22 00:00 [pubmed]
PHST- 1999/04/22 00:01 [medline]
PHST- 1999/04/22 00:00 [entrez]
AID - 10.1023/a:1006981724233 [doi]
PST - ppublish
SO  - Glycoconj J. 1998 Oct;15(10):961-7. doi: 10.1023/a:1006981724233.