1993
DOI: 10.1007/bf01209845
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S2.2 Molecular cloning and localization to chromosome 14 of the human UDP-N-acetylglucosamine:?-6-D-mannoside?-1,2-N-acetylglucosaminyltransferase II gene (MGAT2)

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Cited by 12 publications
(6 citation statements)
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“…It is possible that these donors are heterozygous for the CDGS lesion but analysis at the DNA level is required for definitive diagnosis. The human GlcNAc-TI1 gene (MGAT2) has been cloned and is on chromosome 14q21 ( [46]; unpublished results). The defect in the CDGS type-I1 patient has been localized to a point mutation in the coding region of GlcNAc-TI1 (Tan, J., Jaeken, J., Dunn, J. and Schachter, H., unpublished observations).…”
Section: Resultsmentioning
confidence: 99%
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“…It is possible that these donors are heterozygous for the CDGS lesion but analysis at the DNA level is required for definitive diagnosis. The human GlcNAc-TI1 gene (MGAT2) has been cloned and is on chromosome 14q21 ( [46]; unpublished results). The defect in the CDGS type-I1 patient has been localized to a point mutation in the coding region of GlcNAc-TI1 (Tan, J., Jaeken, J., Dunn, J. and Schachter, H., unpublished observations).…”
Section: Resultsmentioning
confidence: 99%
“…The addition of fibroblast extracts from CDGS type-I1 patients to control fibroblast extracts resulted in additive GlcNAc-TI1 activities [ 161, indicating that the reduction in the enzyme level is not due to an inhibitor but is probably the result of either a deficiency or a defect in the GlcNAc-TI1 protein. The human GlcNAc-TI1 gene (MGAT2) has been cloned and is on chromosome 14q21 ( [46]; unpublished results). Northern-blot analysis of mRNA from CDGS type-I1 fibroblasts has shown apparently normal transcription of the MGAT2 gene and detailed structural analyses of DNA encoding GlcNAc-TI1 from two CDGS type-I1 patients and the father, mother and brother of JV have shown point mutations in the coding region of the gene (Tan, J., Jaeken, J., Dunn, J. and Schachter, H., unpublished observations).…”
Section: Discussionmentioning
confidence: 99%
“…This enzyme has been purified and characterized from rat liver [20, 211, insect cells [22], and plants [23], The genes for human [24] and rat [25] DGlcNAc-T I1 have been cloned. So far, the specific PI-2 xylosyltransferase involved in the biosynthesis of N-linked oligosaccharides has not been described in animals ; in plants, two xylosyltransferase activities have been reported [lo, 261.…”
mentioning
confidence: 99%
“…Their parents had normal serum transferrin IEF patterns, and mononuclear cell extracts from the parents of one patient had approximately 50% normal activity of Gn-TII. The gene encoding GnTII (MGAT2) has been cloned and mapped to human chromosome 14q21 (34).…”
Section: I-cellmentioning
confidence: 99%