PMID- 10473568
OWN - NLM
STAT- MEDLINE
DCOM- 19991007
LR  - 20190508
IS  - 0021-9258 (Print)
IS  - 0021-9258 (Linking)
VI  - 274
IP  - 37
DP  - 1999 Sep 10
TI  - Cloning and expression of a proteoglycan UDP-galactose:beta-xylose
      beta1,4-galactosyltransferase I. A seventh member of the human
      beta4-galactosyltransferase gene family.
PG  - 26165-71
AB  - A seventh member of the human beta4-galactosyltransferase family, beta4Gal-T7,
      was identified by BLAST analysis of expressed sequence tags. The coding region of
      beta4Gal-T7 depicts a type II transmembrane protein with sequence similarity to
      beta4-galactosyltransferases, but the sequence was distinct in known motifs and
      did not contain the cysteine residues conserved in the other six members of the
      beta4Gal-T family. The genomic organization of beta4Gal-T7 was different from
      previous beta4Gal-Ts. Expression of beta4Gal-T7 in insect cells showed that the
      gene product had beta1,4-galactosyltransferase activity with beta-xylosides, and 
      the linkage formed was Galbeta1-4Xyl. Thus, beta4Gal-T7 represents
      galactosyltransferase I enzyme (xylosylprotein beta1, 4-galactosyltransferase; EC
      2.4.1.133), which attaches the first galactose in the proteoglycan linkage region
      GlcAbeta1-3Galbeta1-3Galbeta1-4Xylbeta1-O-Ser. Sequence analysis of beta4Gal-T7
      from a fibroblast cell line of a patient with a progeroid syndrome and signs of
      the Ehlers-Danlos syndrome, previously shown to exhibit reduced
      galactosyltransferase I activity (Quentin, E., Gladen, A., Roden, L., and Kresse,
      H. (1990) Proc. Natl. Acad. Sci. U. S. A. 87, 1342-1346), revealed two inherited 
      allelic variants, beta4Gal-T7(186D) and beta4Gal-T7(206P), each with a single
      missense substitution in the putative catalytic domain of the enzyme.
      beta4Gal-T7(186D) exhibited a 4-fold elevated K(m) for the donor substrate,
      whereas essentially no activity was demonstrated with beta4Gal-T7(206P).
      Molecular cloning of beta4Gal-T7 should facilitate general studies of its
      pathogenic role in progeroid syndromes and connective tissue disorders with
      affected proteoglycan biosynthesis.
FAU - Almeida, R
AU  - Almeida R
AD  - School of Dentistry, University of Copenhagen, Norre Alle 20, 2200 Copenhagen N, 
      Denmark.
FAU - Levery, S B
AU  - Levery SB
FAU - Mandel, U
AU  - Mandel U
FAU - Kresse, H
AU  - Kresse H
FAU - Schwientek, T
AU  - Schwientek T
FAU - Bennett, E P
AU  - Bennett EP
FAU - Clausen, H
AU  - Clausen H
LA  - eng
SI  - GENBANK/AJ005382
GR  - 5 P41 RR05351/RR/NCRR NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - J Biol Chem
JT  - The Journal of biological chemistry
JID - 2985121R
RN  - 0 (DNA, Complementary)
RN  - EC 2.4.1.- (Galactosyltransferases)
RN  - EC 2.4.1.- (UDP-galactose xylose galactosyltransferase)
SB  - IM
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Cloning, Molecular
MH  - DNA, Complementary
MH  - Galactosyltransferases/chemistry/*genetics/metabolism
MH  - Humans
MH  - Magnetic Resonance Spectroscopy
MH  - Molecular Sequence Data
MH  - Sequence Homology, Amino Acid
EDAT- 1999/09/03 00:00
MHDA- 1999/09/03 00:01
CRDT- 1999/09/03 00:00
PHST- 1999/09/03 00:00 [pubmed]
PHST- 1999/09/03 00:01 [medline]
PHST- 1999/09/03 00:00 [entrez]
AID - 10.1074/jbc.274.37.26165 [doi]
PST - ppublish
SO  - J Biol Chem. 1999 Sep 10;274(37):26165-71. doi: 10.1074/jbc.274.37.26165.