PubMed:12468428
Annnotations
{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/12468428","sourcedb":"PubMed","sourceid":"12468428","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/12468428","text":"A novel I-branching beta-1,6-N-acetylglucosaminyltransferase involved in human blood group I antigen expression.\nThe 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\u003eA; Gly336Arg) and exon 3 (1049G\u003eA; 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.","tracks":[{"project":"GGDB-2020","denotations":[{"id":"T1","span":{"begin":371,"end":375},"obj":"https://acgg.asia/db/ggdb/info/gg111"}],"attributes":[{"subj":"T1","pred":"source","obj":"GGDB-2020"}]},{"project":"ggdb-test","denotations":[{"id":"T1","span":{"begin":371,"end":375},"obj":"https://acgg.asia/db/ggdb/info/gg111"}],"attributes":[{"subj":"T1","pred":"source","obj":"ggdb-test"}]},{"project":"glycogenes","denotations":[{"id":"PD-GlycoGenes20190927-B_T1","span":{"begin":371,"end":375},"obj":"https://acgg.asia/db/ggdb/info/gg111"},{"id":"PD-GlycoGenes20190927-B_T2","span":{"begin":546,"end":549},"obj":"https://acgg.asia/db/ggdb/info/gg135"},{"id":"PD-GlycoGenes20190927-B_T3","span":{"begin":625,"end":635},"obj":"url"}],"attributes":[{"subj":"PD-GlycoGenes20190927-B_T1","pred":"source","obj":"glycogenes"},{"subj":"PD-GlycoGenes20190927-B_T2","pred":"source","obj":"glycogenes"},{"subj":"PD-GlycoGenes20190927-B_T3","pred":"source","obj":"glycogenes"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"GGDB-2020","color":"#93ece4","default":true},{"id":"ggdb-test","color":"#ecca93"},{"id":"glycogenes","color":"#b093ec"}]}]}}