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Prepublished online as a Blood First Edition Paper on December 5, 2002; DOI 10.1182/blood-2002-09-2838. This Article Full Text Full Text (PDF) All Versions of this Article: 2002-09-2838v1 101/7/2870    most recent Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Inaba, N. Articles by Narimatsu, H. Search for Related Content PubMed PubMed Citation Articles by Inaba, N. Articles by Narimatsu, H. Related Collections Hematopoiesis and Stem Cells Red Cells Transfusion Medicine Gene Expression Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, 1 April 2003, Vol. 101, No. 7, pp. 2870-2876 TRANSFUSION MEDICINE A novel I-branching -1,6-N-acetylglucosaminyltransferase involved in human blood group I antigen expression Niro Inaba, Toru Hiruma, Akira Togayachi, Hiroko Iwasaki, Xiao-Hui Wang, Yusuke Furukawa, Ryoichi Sumi, Takashi Kudo, Katsuya Fujimura, Toshie Iwai, Masanori Gotoh, Mitsuru Nakamura, and Hisashi Narimatsu From the National Institute of Advanced Industrial Science and Technology (AIST), Glycogene Function Team and Cell Regulation Analysis Team, Research Center for Glycoscience (RCG), Tsukuba, Ibaraki; JGS Japan Genome Solutions, Inc, Hachioji, Tokyo; Fujirebio Inc, Frontier Research Division, Hachioji, Tokyo; Jichi Medical School, Division of Stem Cell Regulation, Minamikawachi, Tochigi; Amersham Biosciences KK, Tokyo; and Gifu Prefecture Blood Center, 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 -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. © 2003 by The American Society of Hematology.   CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: Y.-Y. Fan, S.-Y. Yu, H. Ito, A. Kameyama, T. Sato, C.-H. Lin, L.-C. Yu, H. Narimatsu, and K.-H. Khoo Identification of Further Elongation and Branching of Dimeric Type 1 Chain on Lactosylceramides from Colonic Adenocarcinoma by Tandem Mass Spectrometry Sequencing Analyses J. Biol. 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