// Workers AI · dad joke modeWhat did large say to extra large? You're bigger than me.
Xylosyl- and glucuronyltransferase LARGE1 is an enzyme that in humans is encoded by the gene LARGE1 (formerly LARGE).[5][6][7][8] In 2024, a deep mutational scanning was conducted, which generated functional scores for all possible single nucleotide variants of the human LARGE1 coding sequence.[9]
Function
[edit]This gene, which is one of the largest in the human genome, encodes a member of the N-acetylglucosaminyltransferase gene family. The exact function of LARGE, a golgi protein, remains uncertain.[7] It encodes a glycosyltransferase which participates in glycosylation of alpha-dystroglycan, and may carry out the synthesis of glycoprotein and glycosphingolipid sugar chains. It may also be involved in the addition of a repeated disaccharide unit. Mutations in this gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan. Alternative splicing of this gene results in two transcript variants that encode the same protein.[7][8]
LARGE may also play a role in tumor-specific genomic rearrangements. Mutations in this gene may be involved in the development and progression of meningioma through modification of ganglioside composition and other glycosylated molecules in tumor cells.
See also
[edit]References
[edit]- 1 2 3 GRCh38: Ensembl release 89: ENSG00000133424 – Ensembl, May 2017
- 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000004383 – Ensembl, May 2017
- ↑ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
- ↑ Peyrard M, Seroussi E, Sandberg-Nordqvist AC, Xie YG, Han FY, Fransson I, et al. (March 1999). "The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family". Proceedings of the National Academy of Sciences of the United States of America. 96 (2): 598–603. Bibcode:1999PNAS...96..598P. doi:10.1073/pnas.96.2.598. PMC 15182. PMID 9892679.
- ↑ Dunham I, Shimizu N, Roe BA, Chissoe S, Hunt AR, Collins JE, et al. (December 1999). "The DNA sequence of human chromosome 22". Nature. 402 (6761): 489–495. Bibcode:1999Natur.402..489D. doi:10.1038/990031. PMID 10591208.
- 1 2 3 Longman C, Brockington M, Torelli S, Jimenez-Mallebrera C, Kennedy C, Khalil N, et al. (October 2003). "Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan". Human Molecular Genetics. 12 (21): 2853–2861. doi:10.1093/hmg/ddg307. PMID 12966029.
- 1 2 "Entrez Gene: LARGE like-glycosyltransferase".
- ↑ Ma K, Huang S, Ng KK, Lake NJ, Joseph S, Xu J, et al. (November 2024). "Saturation mutagenesis-reinforced functional assays for disease-related genes". Cell. 187 (23): 6707–6724.e22. doi:10.1016/j.cell.2024.08.047. PMC 11568926. PMID 39326416.
Further reading
[edit]- Nagase T, Ishikawa K, Miyajima N, Tanaka A, Kotani H, Nomura N, et al. (February 1998). "Prediction of the coding sequences of unidentified human genes. IX. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro". DNA Research. 5 (1): 31–39. doi:10.1093/dnares/5.1.31. PMID 9628581.
- Kanagawa M, Saito F, Kunz S, Yoshida-Moriguchi T, Barresi R, Kobayashi YM, et al. (June 2004). "Molecular recognition by LARGE is essential for expression of functional dystroglycan". Cell. 117 (7): 953–964. doi:10.1016/j.cell.2004.06.003. PMID 15210115.
- Collins JE, Wright CL, Edwards CA, Davis MP, Grinham JA, Cole CG, et al. (2004). "A genome annotation-driven approach to cloning the human ORFeome". Genome Biology. 5 (10) R84. doi:10.1186/gb-2004-5-10-r84. PMC 545604. PMID 15461802.
- Brockington M, Torelli S, Prandini P, Boito C, Dolatshad NF, Longman C, et al. (March 2005). "Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy". Human Molecular Genetics. 14 (5): 657–665. doi:10.1093/hmg/ddi062. PMID 15661757.
- Fujimura K, Sawaki H, Sakai T, Hiruma T, Nakanishi N, Sato T, et al. (April 2005). "LARGE2 facilitates the maturation of alpha-dystroglycan more effectively than LARGE". Biochemical and Biophysical Research Communications. 329 (3): 1162–1171. doi:10.1016/j.bbrc.2005.02.082. PMID 15752776.
- Grewal PK, McLaughlan JM, Moore CJ, Browning CA, Hewitt JE (October 2005). "Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies". Glycobiology. 15 (10): 912–923. doi:10.1093/glycob/cwi094. PMID 15958417.
External links
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