Gxylt1-flox Mouse
一般名
Gxylt1-flox
製品ID
S-CKO-18991
背景情報
C57BL/6JCya
系統ID
CKOCMP-223827-Gxylt1-B6J-VB
状況
このマウス系統を論文で使用する場合は、「Gxylt1-flox Mouse（カタログ番号S-CKO-18991）はサイアジェンから購入しました。」と引用してください。
製品タイプ
年齢
遺伝子型
性別
数量
標準的な配送方法では、少なくとも3匹のヘテロ接合体キャリアを保証しています。ホモ接合体キャリアや指定された性別の個体の繁殖サービスも利用可能です。
基本情報
系統名
Gxylt1-flox
系統ID
CKOCMP-223827-Gxylt1-B6J-VB
遺伝子名
製品ID
S-CKO-18991
遺伝子別名
Glt8d3, Gm1228, Gm87
遺伝子別名
C57BL/6JCya
遺伝子正式名称
glucoside xylosyltransferase 1
NCBI ID
修正
Conditional knockout
染色体
Chr 15
表現型
アプリケーション
--
さらに
系統詳細
EnsemblトランスクリプトID
ENSMUST00000057896
NCBIトランスクリプトID
NM_001346785
ターゲット領域
Exon 3~4
有効領域の大きさ
~4.0 kb
遺伝子研究の概要
GXYLT1, a member of the glycosyltransferase 8 family, functions as a xylosyltransferase acting on O-glucosylated EGF repeats of Notch [9]. It is involved in the xylosyl elongation of O-glucose, which has significance in the quality control of Notch receptors, regulating their cell-surface trafficking [6]. NOTCH activation can promote the expression of GXYLT1 in human myeloid leukemia cells, suggesting a role in modulating NOTCH sensitivity through increased glycosylation of NOTCH receptors [5].
Genetic analysis of 45 CRC patients in northern China by whole-exome sequencing revealed GXYLT1 was mutated in 40% of samples. Functionally, GXYLT1 promoted migration, invasion in vitro and metastasis in vivo. The GXYLT1S212* mutant had a more significant effect, mainly promoting metastasis by activating the MAPK pathway. GXYLT1 may act as a novel metastasis-associated driver gene in CRC [1]. In Crohn disease, exome sequencing implicated GXYLT1 in modulating granuloma formation, with potential subgroup associations [2]. In psoriasis, GXYLT1 mutations were identified, potentially selected for in squamous epithelium regardless of disease status [3]. A genome-wide meta-analysis found a genetic variant near GXYLT1 associated with glycemic response to sulfonylureas, with the C allele at rs1234032 associated with less HbA1c reduction and higher glucose trough levels, and also being a cis eQTL for increased GXYLT1 expression [4]. In the study of carotid paragangliomas and Cronkhite-Canada syndrome, GXYLT1 was among the genes potentially associated with their development [7,8].
In summary, GXYLT1 has important functions in glycosylation and Notch-related processes. Its role in various diseases such as CRC, Crohn disease, psoriasis, and in glycemic response to sulfonylureas, as well as its potential association with carotid paragangliomas and Cronkhite-Canada syndrome, has been revealed through genetic and functional studies. Understanding GXYLT1 may provide insights into disease mechanisms and potential therapeutic targets.
References：
1. Peng, Lin, Zhao, Min, Liu, Tianqi, Jiang, Beihai, Su, Xiangqian. 2022. A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway. In Cell death & disease, 13, 395. doi:10.1038/s41419-022-04844-3. https://pubmed.ncbi.nlm.nih.gov/35459861/
2. Harris, R Alan, Bush, Allyson H, Eagar, Todd N, Kugathasan, Subra, Kellermayer, Richard. 2023. Exome Sequencing Implicates DGKZ , ESRRA , and GXYLT1 for Modulating Granuloma Formation in Crohn Disease. In Journal of pediatric gastroenterology and nutrition, 77, 354-357. doi:10.1097/MPG.0000000000003873. https://pubmed.ncbi.nlm.nih.gov/37347142/
3. Olafsson, Sigurgeir, Rodriguez, Elke, Lawson, Andrew R J, Campbell, Peter J, Anderson, Carl A. 2023. Effects of psoriasis and psoralen exposure on the somatic mutation landscape of the skin. In Nature genetics, 55, 1892-1900. doi:10.1038/s41588-023-01545-1. https://pubmed.ncbi.nlm.nih.gov/37884686/
4. Dawed, Adem Y, Yee, Sook Wah, Zhou, Kaixin, Giacomini, Kathleen M, Pearson, Ewan R. 2021. Genome-Wide Meta-analysis Identifies Genetic Variants Associated With Glycemic Response to Sulfonylureas. In Diabetes care, 44, 2673-2682. doi:10.2337/dc21-1152. https://pubmed.ncbi.nlm.nih.gov/34607834/
5. Wang, Shichun, Itoh, Mai, Shiratori, Erika, Ohtaka, Mika, Tohda, Shuji. 2018. NOTCH activation promotes glycosyltransferase expression in human myeloid leukemia cells. In Hematology reports, 10, 7576. doi:10.4081/hr.2018.7576. https://pubmed.ncbi.nlm.nih.gov/30344988/
6. Urata, Yusuke, Saiki, Wataru, Tsukamoto, Yohei, Okajima, Tetsuya, Takeuchi, Hideyuki. 2020. Xylosyl Extension of O-Glucose Glycans on the Extracellular Domain of NOTCH1 and NOTCH2 Regulates Notch Cell Surface Trafficking. In Cells, 9, . doi:10.3390/cells9051220. https://pubmed.ncbi.nlm.nih.gov/32423029/
7. Snezhkina, A V, Lukyanova, E N, Fedorova, M S, Pudova, E A, Kudryavtseva, A V. . [Novel Genes Associated with the Development of Carotid Paragangliomas]. In Molekuliarnaia biologiia, 53, 613-626. doi:10.1134/S0026898419040141. https://pubmed.ncbi.nlm.nih.gov/31397435/
8. Liu, Shuang, Zhang, Run Feng, You, Yan, Li, Ji, Qian, Jia Ming. 2022. The genomic landscape of Cronkhite-Canada syndrome: Possible clues for pathogenesis. In Journal of digestive diseases, 23, 288-294. doi:10.1111/1751-2980.13101. https://pubmed.ncbi.nlm.nih.gov/35678525/
9. Sethi, Maya K, Buettner, Falk F R, Ashikov, Angel, Bakker, Hans. . In vitro assays of orphan glycosyltransferases and their application to identify Notch xylosyltransferases. In Methods in molecular biology (Clifton, N.J.), 1022, 307-20. doi:10.1007/978-1-62703-465-4_23. https://pubmed.ncbi.nlm.nih.gov/23765671/
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