BIOMAT Database Logo BIOMAT Database Logo

A novel I-branching beta-1,6-N-acetylglucosaminyltransferase involved in human blood group I antigen expression. 2003

Niro Inaba, and Toru Hiruma, and Akira Togayachi, and Hiroko Iwasaki, and Xiao-Hui Wang, and Yusuke Furukawa, and Ryoichi Sumi, and Takashi Kudo, and Katsuya Fujimura, and Toshie Iwai, and Masanori Gotoh, and Mitsuru Nakamura, and Hisashi Narimatsu
National Institute of Advanced Industrial Science and Technology, Glycogene Function Team, Research Center for Glycoscience, Tsukuba, Ibaraki, Japan.

The human blood group i and I antigens are determined by linear and branched poly-N-acetyllactosamine structures, respectively. In erythrocytes, the fetal i antigen is converted to the adult I antigen by I-branching beta-1,6-N-acetylglucosaminyltransferase (IGnT) during development. Dysfunction of the I-branching enzyme may result in the adult i phenotype in erythrocytes. However, the I gene responsible for blood group I antigen has not been fully confirmed. We report here a novel human I-branching enzyme, designated IGnT3. The genes for IGnT1 (reported in 1993), IGnT2 (also presented in this study), and IGnT3 consist of 3 exons and share the second and third exons. Bone marrow cells preferentially expressed IGnT3 transcript. During erythroid differentiation using CD34(+) cells, IGnT3 was markedly up-regulated with concomitant decrease in IGnT1/2. Moreover, reticulocytes expressed the IGnT3 transcript, but IGnT1/2 was below detectable levels. By molecular genetic analyses of an adult i pedigree, individuals with the adult i phenotype were revealed to have heterozygous alleles with mutations in exon 2 (1006G>A; Gly336Arg) and exon 3 (1049G>A; Gly350Glu), respectively, of the IGnT3 gene. Chinese hamster ovary (CHO) cells transfected with each mutated IGnT3 cDNA failed to express I antigen. These findings indicate that the expression of the blood group I antigen in erythrocytes is determined by a novel IGnT3, not by IGnT1 or IGnT2.

UI MeSH Term Description Entries
D007048 I Blood-Group System A blood group related both to the ABO and P systems that includes several different antigens found in most people on erythrocytes, in milk, and in saliva. The antibodies react only at low temperatures. Blood-Group System, I,Blood-Group Systems, I,I Blood Group System,I Blood-Group Systems,System, I Blood-Group,Systems, I Blood-Group
D007527 Isoenzymes Structurally related forms of an enzyme. Each isoenzyme has the same mechanism and classification, but differs in its chemical, physical, or immunological characteristics. Alloenzyme,Allozyme,Isoenzyme,Isozyme,Isozymes,Alloenzymes,Allozymes
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D012156 Reticulocytes Immature ERYTHROCYTES. In humans, these are ERYTHROID CELLS that have just undergone extrusion of their CELL NUCLEUS. They still contain some organelles that gradually decrease in number as the cells mature. RIBOSOMES are last to disappear. Certain staining techniques cause components of the ribosomes to precipitate into characteristic "reticulum" (not the same as the ENDOPLASMIC RETICULUM), hence the name reticulocytes. Reticulocyte
D002240 Carbohydrate Sequence The sequence of carbohydrates within POLYSACCHARIDES; GLYCOPROTEINS; and GLYCOLIPIDS. Carbohydrate Sequences,Sequence, Carbohydrate,Sequences, Carbohydrate
D006412 Hematopoietic Stem Cells Progenitor cells from which all blood cells derived. They are found primarily in the bone marrow and also in small numbers in the peripheral blood. Colony-Forming Units, Hematopoietic,Progenitor Cells, Hematopoietic,Stem Cells, Hematopoietic,Hematopoietic Progenitor Cells,Cell, Hematopoietic Progenitor,Cell, Hematopoietic Stem,Cells, Hematopoietic Progenitor,Cells, Hematopoietic Stem,Colony Forming Units, Hematopoietic,Colony-Forming Unit, Hematopoietic,Hematopoietic Colony-Forming Unit,Hematopoietic Colony-Forming Units,Hematopoietic Progenitor Cell,Hematopoietic Stem Cell,Progenitor Cell, Hematopoietic,Stem Cell, Hematopoietic,Unit, Hematopoietic Colony-Forming,Units, Hematopoietic Colony-Forming
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328 Adult A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available. Adults

Related Publications

Niro Inaba, and Toru Hiruma, and Akira Togayachi, and Hiroko Iwasaki, and Xiao-Hui Wang, and Yusuke Furukawa, and Ryoichi Sumi, and Takashi Kudo, and Katsuya Fujimura, and Toshie Iwai, and Masanori Gotoh, and Mitsuru Nakamura, and Hisashi Narimatsu
Human serum contains a novel beta 1,6-N-acetylglucosaminyltransferase activity that is involved in midchain branching of oligo (N-acetyllactosaminoglycans).
September 1991, Biochemistry,
Niro Inaba, and Toru Hiruma, and Akira Togayachi, and Hiroko Iwasaki, and Xiao-Hui Wang, and Yusuke Furukawa, and Ryoichi Sumi, and Takashi Kudo, and Katsuya Fujimura, and Toshie Iwai, and Masanori Gotoh, and Mitsuru Nakamura, and Hisashi Narimatsu
Expression of the large I antigen forming beta-1,6-N-acetylglucosaminyltransferase in various tissues of adult mice.
March 1997, Glycobiology,
Niro Inaba, and Toru Hiruma, and Akira Togayachi, and Hiroko Iwasaki, and Xiao-Hui Wang, and Yusuke Furukawa, and Ryoichi Sumi, and Takashi Kudo, and Katsuya Fujimura, and Toshie Iwai, and Masanori Gotoh, and Mitsuru Nakamura, and Hisashi Narimatsu
Genomic organization of core 2 and I branching beta-1,6-N-acetylglucosaminyltransferases. Implication for evolution of the beta-1,6-N-acetylglucosaminyltransferase gene family.
June 1995, Glycobiology,
Niro Inaba, and Toru Hiruma, and Akira Togayachi, and Hiroko Iwasaki, and Xiao-Hui Wang, and Yusuke Furukawa, and Ryoichi Sumi, and Takashi Kudo, and Katsuya Fujimura, and Toshie Iwai, and Masanori Gotoh, and Mitsuru Nakamura, and Hisashi Narimatsu
A novel beta(1,6)-N-acetylglucosaminyltransferase V (GnT-VB)(1).
November 2003, FEBS letters,
Niro Inaba, and Toru Hiruma, and Akira Togayachi, and Hiroko Iwasaki, and Xiao-Hui Wang, and Yusuke Furukawa, and Ryoichi Sumi, and Takashi Kudo, and Katsuya Fujimura, and Toshie Iwai, and Masanori Gotoh, and Mitsuru Nakamura, and Hisashi Narimatsu
Expression of the developmental I antigen by a cloned human cDNA encoding a member of a beta-1,6-N-acetylglucosaminyltransferase gene family.
March 1993, Genes & development,
Niro Inaba, and Toru Hiruma, and Akira Togayachi, and Hiroko Iwasaki, and Xiao-Hui Wang, and Yusuke Furukawa, and Ryoichi Sumi, and Takashi Kudo, and Katsuya Fujimura, and Toshie Iwai, and Masanori Gotoh, and Mitsuru Nakamura, and Hisashi Narimatsu
Deficiency of beta 1-6 N-acetylglucosaminyltransferase involved in the biosynthesis of blood group I antigen in the liver of LEC rats.
August 1992, Japanese journal of cancer research : Gann,
Niro Inaba, and Toru Hiruma, and Akira Togayachi, and Hiroko Iwasaki, and Xiao-Hui Wang, and Yusuke Furukawa, and Ryoichi Sumi, and Takashi Kudo, and Katsuya Fujimura, and Toshie Iwai, and Masanori Gotoh, and Mitsuru Nakamura, and Hisashi Narimatsu
Biosynthesis of blood group I and i antigens in rat tissues. Identification of a novel beta 1-6-N-acetylglucosaminyltransferase.
February 1992, The Journal of biological chemistry,
Niro Inaba, and Toru Hiruma, and Akira Togayachi, and Hiroko Iwasaki, and Xiao-Hui Wang, and Yusuke Furukawa, and Ryoichi Sumi, and Takashi Kudo, and Katsuya Fujimura, and Toshie Iwai, and Masanori Gotoh, and Mitsuru Nakamura, and Hisashi Narimatsu
The molecular genetics of the mouse I beta-1,6-N-acetylglucosaminyltransferase locus.
April 2003, Biochemical and biophysical research communications,
Niro Inaba, and Toru Hiruma, and Akira Togayachi, and Hiroko Iwasaki, and Xiao-Hui Wang, and Yusuke Furukawa, and Ryoichi Sumi, and Takashi Kudo, and Katsuya Fujimura, and Toshie Iwai, and Masanori Gotoh, and Mitsuru Nakamura, and Hisashi Narimatsu
Expression of a differentiation antigen and poly-N-acetyllactosaminyl O-glycans directed by a cloned core 2 beta-1,6-N-acetylglucosaminyltransferase.
February 1994, The Journal of biological chemistry,
Niro Inaba, and Toru Hiruma, and Akira Togayachi, and Hiroko Iwasaki, and Xiao-Hui Wang, and Yusuke Furukawa, and Ryoichi Sumi, and Takashi Kudo, and Katsuya Fujimura, and Toshie Iwai, and Masanori Gotoh, and Mitsuru Nakamura, and Hisashi Narimatsu
Expression of stable human O-glycan core 2 beta-1,6-N-acetylglucosaminyltransferase in Sf9 insect cells.
July 1997, The Biochemical journal,
Copied contents to your clipboard!