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פותח על ידי קלירמאש פתרונות בע"מ -
The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family
Year:
1999
Authors :
סרוסי, אייל
;
.
Volume :
96
Co-Authors:
Peyrard, M., Department of Molecular Medicine, Karolinska Hospital, S-171 76 Stockholm, Sweden
Seroussi, E., Department of Molecular Medicine, Karolinska Hospital, S-171 76 Stockholm, Sweden
Sandberg-Nordqvist, A.-C., Department of Molecular Medicine, Karolinska Hospital, S-171 76 Stockholm, Sweden
Xie, Y.-G., Department of Molecular Medicine, Karolinska Hospital, S-171 76 Stockholm, Sweden
Han, F.-Y., Department of Molecular Medicine, Karolinska Hospital, S-171 76 Stockholm, Sweden
Fransson, I., Department of Molecular Medicine, Karolinska Hospital, S-171 76 Stockholm, Sweden
Collins, J., Sanger Center, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, United Kingdom
Dunham, I., Sanger Center, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, United Kingdom
Kost-Alimova, M., Microbiol. and Tumor Biology Center, Karolinska Institutet, S-171 77 Stockholm, Sweden, Engelhardt Inst. of Molec. Biology, Russian Academy of Sciences, Vavilov Street 32, 117984 Moscow, Russian Federation
Imreh, S., Microbiol. and Tumor Biology Center, Karolinska Institutet, S-171 77 Stockholm, Sweden
Dumanski, J.P., Department of Molecular Medicine, Karolinska Hospital, S-171 76 Stockholm, Sweden
Facilitators :
From page:
598
To page:
603
(
Total pages:
6
)
Abstract:
Meningioma, a tumor of the meninges covering the central nervous system, shows frequent loss of material from human chromosome 22. Homozygous and heterozygous deletions in meningiomas defined a candidate region of >1 Mbp in 22q12.3-q13.1 and directed us to gene cloning in this segment. We characterized a new member of the N-acetylglucosaminyltransferase gene family, the LARGE gene. It occupies >664 kilobases and is one of the largest human genes. The predicted 756-aa N-acetylglncosaminyltransferase encoded by LARGE displays features that are absent in other glycosyltransferases. The human like-acetylglucosaminyltransferase polypeptide is much longer and contains putative coiled-coil domains. We characterized the mouse LARGE ortholog, which encodes a protein 97.75% identical with the human counterpart. Both genes reveal ubiquitous expression as assessed by Northern blot analysis and in situ histochemistry. Chromosomal mapping of the mouse gene reveals that mouse chromosome 8C1 corresponds to human 22q12.3-q13.1. Abnormal glycosylation of proteins and glycosphingolipids has been shown as a mechanism behind an increased potential of tumor formation and/or progression. Human tumors overexpress ganglioside GD3 (NeuAcα2,8NeuAcα2,3Galβ1,4Glc-Cer), which in meningiomas correlates with deletions on chromosome 22. It is the first time that a glycosyltransferase gene is involved in tumor-specific genomic rearrangements. An abnormal function of the human like-acetylglucosaminyltransferase protein may be linked to the development/progression of meningioma by altering the composition of gangliosides and/or by effect(s) on other glycosylated molecules in tumor cells.
Note:
Related Files :
Animals
animal tissue
chromosome mapping
Chromosomes, Human, Pair 22
Gangliosides
mice
multigene family
עוד תגיות
תוכן קשור
More details
DOI :
10.1073/pnas.96.2.598
Article number:
Affiliations:
Database:
סקופוס
Publication Type:
מאמר
;
.
Language:
אנגלית
Editors' remarks:
ID:
28838
Last updated date:
02/03/2022 17:27
Creation date:
17/04/2018 00:42
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Scientific Publication
The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family
96
Peyrard, M., Department of Molecular Medicine, Karolinska Hospital, S-171 76 Stockholm, Sweden
Seroussi, E., Department of Molecular Medicine, Karolinska Hospital, S-171 76 Stockholm, Sweden
Sandberg-Nordqvist, A.-C., Department of Molecular Medicine, Karolinska Hospital, S-171 76 Stockholm, Sweden
Xie, Y.-G., Department of Molecular Medicine, Karolinska Hospital, S-171 76 Stockholm, Sweden
Han, F.-Y., Department of Molecular Medicine, Karolinska Hospital, S-171 76 Stockholm, Sweden
Fransson, I., Department of Molecular Medicine, Karolinska Hospital, S-171 76 Stockholm, Sweden
Collins, J., Sanger Center, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, United Kingdom
Dunham, I., Sanger Center, Wellcome Trust Genome Campus, Hinxton, Cambridgeshire CB10 1SA, United Kingdom
Kost-Alimova, M., Microbiol. and Tumor Biology Center, Karolinska Institutet, S-171 77 Stockholm, Sweden, Engelhardt Inst. of Molec. Biology, Russian Academy of Sciences, Vavilov Street 32, 117984 Moscow, Russian Federation
Imreh, S., Microbiol. and Tumor Biology Center, Karolinska Institutet, S-171 77 Stockholm, Sweden
Dumanski, J.P., Department of Molecular Medicine, Karolinska Hospital, S-171 76 Stockholm, Sweden
The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family
Meningioma, a tumor of the meninges covering the central nervous system, shows frequent loss of material from human chromosome 22. Homozygous and heterozygous deletions in meningiomas defined a candidate region of >1 Mbp in 22q12.3-q13.1 and directed us to gene cloning in this segment. We characterized a new member of the N-acetylglucosaminyltransferase gene family, the LARGE gene. It occupies >664 kilobases and is one of the largest human genes. The predicted 756-aa N-acetylglncosaminyltransferase encoded by LARGE displays features that are absent in other glycosyltransferases. The human like-acetylglucosaminyltransferase polypeptide is much longer and contains putative coiled-coil domains. We characterized the mouse LARGE ortholog, which encodes a protein 97.75% identical with the human counterpart. Both genes reveal ubiquitous expression as assessed by Northern blot analysis and in situ histochemistry. Chromosomal mapping of the mouse gene reveals that mouse chromosome 8C1 corresponds to human 22q12.3-q13.1. Abnormal glycosylation of proteins and glycosphingolipids has been shown as a mechanism behind an increased potential of tumor formation and/or progression. Human tumors overexpress ganglioside GD3 (NeuAcα2,8NeuAcα2,3Galβ1,4Glc-Cer), which in meningiomas correlates with deletions on chromosome 22. It is the first time that a glycosyltransferase gene is involved in tumor-specific genomic rearrangements. An abnormal function of the human like-acetylglucosaminyltransferase protein may be linked to the development/progression of meningioma by altering the composition of gangliosides and/or by effect(s) on other glycosylated molecules in tumor cells.
Scientific Publication
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