biostudies-literatureUnknown96(2)Peyrard MMeningioma, 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-acetylglucosaminyltransferase 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 Proceedings of the National Academy of Sciences of the United States of America598-603https://www.ebi.ac.uk/biostudies/studies/S-EPMC15182biostudies-literatureThe human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family.PMC15182Kost-Alimova MPeyrard MSeroussi EFransson IDunham IHan FYImreh SXie YGDumanski JPSandberg-Nordqvist ACCollins JfalseThe 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-acetylglucosaminyltransferase 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 1999-01-01T00:00:00Z1999 Jan2025-04-04T22:04:39.536Z2019-03-26T23:45:18ZS-EPMC15182989267910.1073/pnas.96.2.598