Gxylt1-flox Mouse
Common Name
Gxylt1-flox
제품 ID
S-CKO-18991
Backgroud
C57BL/6JCya
품종 계통계통 ID
CKOCMP-223827-Gxylt1-B6J-VB
상태
이 마우스 계통을 논문에서 사용할 경우, “Gxylt1-flox Mouse (카탈로그 번호 S-CKO-18991)은 Cyagen에서 구입하였습니다.”라고 명시해 주시기 바랍니다.
구매 가능한 제품 종류
연령
Genotype
성별
수량
표준 제공 조건은 최소 3마리의 이형접합(heterozygous) 보균자를 보장합니다. 동형접합(homozygous) 보균자 및/또는 특정 성별에 대한 브리딩 서비스도 제공됩니다.
기본 정보
품종 계통
Gxylt1-flox
품종 계통계통 ID
CKOCMP-223827-Gxylt1-B6J-VB
유전자명
제품 ID
S-CKO-18991
유전자 별칭
Gm87, Glt8d3, Gm1228
배경
C57BL/6JCya
NCBI ID
변형 내용
Conditional knockout
염색체
Chr 15
Phenotype
Datasheet
적용 분야
--
품종 계통 설명
Ensembl 전사체 ID
ENSMUST00000057896
NCBI 전사체 ID
NM_001346785
타겟 영역
Exon 3~4
유효 영역 크기
~4.0 kb
유전자 연구 개요
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/
품질 관리 기준
정자 검사
동결 보존 전: 정자 농도 측정 및 정자 생존율 평가.
동결 보존 후: 각 배치에서 동결 보존된 정자 바이알 1개를 선택하여 체외수정(in vitro fertilization)에 사용합니다.
Environmental Standards:
SPFAvailable Region:
GlobalSource:
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