Hsd17b14-KO 基因敲除小鼠

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产品名称

Hsd17b14-KO 基因敲除小鼠

产品编号

S-KO-20500

品系全称

C57BL/6JCya-Hsd17b14em1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-66065-Hsd17b14-B6J-VA

品系状态

使用本品系发表的文献需注明: Hsd17b14-KO 基因敲除小鼠 mice (Strain S-KO-20500) were purchased from Cyagen.
交付类型
周龄
性别
基因型
数量

基本信息

基因研究概述

质控标准

基因
基因全称
hydroxysteroid (17-beta) dehydrogenase 14
基因别称
0610039E24Rik,Dhrs10,retSDR3
染色体号
Chr 7 (Mouse)
转录本 ID
NCBI: NM_025330 | Ensembl: ENSMUST00000107752
修饰方式
全身性基因敲除
靶向范围
Exon 2~3
敲除长度
~1.3 kb
品系说明
该品系是基于策略设计时的数据库信息制作而成,建议您在购买前查询最新的数据库和相关文献,以获取最准确的表型信息。
表型提示
MGI:1913315In a high-throughput phenotyping screen, male null mice exhibit infertility, decreased sperm production, testicular degeneration and an increased anxiety-like response to stress-induced hyperthermia. Homozygous null mice also show an increase in serum IgG2a in response to antigen challenge.
Hsd17b14,也称为17β-羟基类固醇脱氢酶14,是一种在类固醇激素代谢中起重要作用的酶。该基因编码的蛋白质能够催化17β-雌二醇(E2)向雌酮(E1)的转化,这一过程在类固醇激素的代谢和调节中发挥着重要作用。此外,Hsd17b14还参与L-岩藻糖的降解途径,将其转化为L-岩藻糖-1,5-内酯,最终分解为丙酮酸和乳酸。这一途径对于维持细胞内L-岩藻糖的平衡具有重要意义。

Hsd17b14基因在多种疾病中发挥着重要作用。研究发现,Hsd17b14基因的编码区存在罕见变异,这些变异与1型糖尿病患者进展至终末期肾病(ESKD)的风险降低相关。这些变异可能通过影响Hsd17b14编码的蛋白质的结构和功能,进而影响肾脏疾病的发生和发展[3]。

此外,Hsd17b14基因的表达水平与乳腺癌的发生和进展密切相关。在乳腺癌组织中,Hsd17b14的表达水平高于正常组织,并且与乳腺癌的转移和预后不良相关。研究表明,Hsd17b14能够将E2转化为E1,而E1能够激活上皮-间质转化(EMT)相关基因,促进乳腺癌的转移[4]。此外,Hsd17b14基因的表达还受到表观遗传调控的影响,如DNA甲基化和microRNA的调控[2]。

除了乳腺癌,Hsd17b14基因还与多种其他疾病相关。研究发现,Hsd17b14基因的拷贝数变异(CNV)与遗传性乳腺癌的易感性相关[1]。此外,Hsd17b14基因的表达还与糖尿病肾病、多囊肾病和胰腺导管腺癌等疾病的发生和进展相关[5,6,7]。

综上所述,Hsd17b14基因在类固醇激素代谢和多种疾病的发生和发展中发挥着重要作用。通过深入研究Hsd17b14基因的功能和调控机制,可以为相关疾病的治疗和预防提供新的思路和策略。

参考文献:
1. Kumpula, Timo A, Vorimo, Sandra, Mattila, Taneli T, Mantere, Tuomo, Pylkäs, Katri. 2023. Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibility. In PLoS genetics, 19, e1010889. doi:10.1371/journal.pgen.1010889. https://pubmed.ncbi.nlm.nih.gov/37578974/
2. Gao, Siyuan, Zhao, Jing, Xu, Qinglei, Schinckel, Allan P, Zhou, Bo. 2021. MiR-31 targets HSD17B14 and FSHR, and miR-20b targets HSD17B14 to affect apoptosis and steroid hormone metabolism of porcine ovarian granulosa cells. In Theriogenology, 180, 94-102. doi:10.1016/j.theriogenology.2021.12.014. https://pubmed.ncbi.nlm.nih.gov/34959084/
3. Mychaleckyj, Josyf C, Valo, Erkka, Ichimura, Takaharu, Warram, James H, Krolewski, Andrzej S. 2021. Association of Coding Variants in Hydroxysteroid 17-beta Dehydrogenase 14 (HSD17B14) with Reduced Progression to End Stage Kidney Disease in Type 1 Diabetes. In Journal of the American Society of Nephrology : JASN, 32, 2634-2651. doi:10.1681/ASN.2020101457. https://pubmed.ncbi.nlm.nih.gov/34261756/
4. Qureshi, Rehana, Picon-Ruiz, Manuel, Sho, Maiko, Ince, Tan A, Slingerland, Joyce. . Estrone, the major postmenopausal estrogen, binds ERa to induce SNAI2, epithelial-to-mesenchymal transition, and ER+ breast cancer metastasis. In Cell reports, 41, 111672. doi:10.1016/j.celrep.2022.111672. https://pubmed.ncbi.nlm.nih.gov/36384125/
5. Zhou, Julie Xia, Li, Linda Xiaoyan, Zhang, Hongbing, Calvet, James P, Li, Xiaogang. 2024. DNA methyltransferase 1 (DNMT1) promotes cyst growth and epigenetic age acceleration in autosomal dominant polycystic kidney disease. In Kidney international, 106, 258-272. doi:10.1016/j.kint.2024.04.017. https://pubmed.ncbi.nlm.nih.gov/38782200/
6. Kordshouli, Shirin Omidvar, Tahmasebi, Ahmad, Moghadam, Ali, Ramezani, Amin, Niazi, Ali. 2024. A comprehensive meta-analysis of transcriptome data to identify signature genes associated with pancreatic ductal adenocarcinoma. In PloS one, 19, e0289561. doi:10.1371/journal.pone.0289561. https://pubmed.ncbi.nlm.nih.gov/38324544/
7. Bi, Z, Wang, L-J, Lin, Y-X, Wang, S-H, Fang, Z-H. . Development of a clinical prediction model for diabetic kidney disease with glucose and lipid metabolism disorders based on machine learning and bioinformatics technology. In European review for medical and pharmacological sciences, 28, 863-878. doi:10.26355/eurrev_202402_35324. https://pubmed.ncbi.nlm.nih.gov/38375694/