Bpnt1-flox 基因敲除小鼠

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产品名称

Bpnt1-flox 基因敲除小鼠

产品编号

S-CKO-08007

品系全称

C57BL/6JCya-Bpnt1em1flox/Cya

品系背景

C57BL/6JCya

品系编号

CKOCMP-23827-Bpnt1-B6J-VA

品系状态

使用本品系发表的文献需注明: Bpnt1-flox 基因敲除小鼠 mice (Strain S-CKO-08007) were purchased from Cyagen.
交付类型
周龄
性别
基因型
数量
cKO小鼠库模型

基本信息

基因研究概述

质控标准

基因
基因全称
3'(2'), 5'-bisphosphate nucleotidase 1
基因别称
BPntase
染色体号
Chr 1 (Mouse)
转录本 ID
NCBI: NM_001347210 | Ensembl: ENSMUST00000210277
修饰方式
条件性基因敲除
靶向范围
Exon 4~5
敲除长度
~2.1 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:1338800Mice homozygous for a knock-out allele develop severe liver pathologies, including hypoproteinemia, abnormal hepatocellular morphology and damage, and in severe cases, whole body edema and premature death.
Bpnt1,即3'-磷酸腺苷5'-磷酸酶(Bisphosphate 3'-nucleotidase),是一种关键的酶,参与硫代同化作用代谢途径,这是调节硫磺化、氨基酸代谢、核苷酸水解和机体稳态的重要代谢途径。Bpnt1的缺失会导致铁缺乏性贫血和水肿,这是由于硫代同化作用代谢途径的毒性增加所引起的[1]。此外,Bpnt1的缺失还会影响铁稳态基因的表达,导致肝脏铁积累,这是遗传性血色病的常见原因[1,6]。

研究发现,通过饮食限制甲硫氨酸和过表达缺氧诱导因子2α(Hif-2a)可以减少由于Bpnt1缺失导致的代谢毒性,从而逆转铁缺乏性贫血[1]。此外,Bpnt1的缺失还会影响其他基因的表达,如SOD2、NR3C1等,这些基因在代谢和应激相关途径中发挥作用[2]。在牛的子宫中,Bpnt1的表达受到干扰素tau(IFNT)的剂量和时间依赖性调节,IFNT是母体识别妊娠(MRP)所必需的[3]。

在秀丽隐杆线虫(Caenorhabditis elegans)中,Bpnt1参与XRN2的自调控和聚顺反子基因表达的控制。Bpnt1通过水解内源性XRN抑制剂3'-磷酸腺苷5'-磷酸(PAP)来促进XRN2的活性,从而影响聚顺反子基因的表达[4]。此外,Bpnt1的表达还受到锂盐的影响,锂盐是治疗双相情感障碍的药物,它可以抑制Bpnt1的活性,导致PAP的积累和细胞毒性[5,9]。

在牛的繁殖性状中,Bpnt1也是一个重要的候选基因。研究发现,Bpnt1的表达与青春期性状相关,如初情期年龄、产后不发情间隔和18个月时的阴囊周长等[7]。此外,Bpnt1的表达还与胃癌的预后相关,Bpnt1高表达的患者预后较差[8]。

综上所述,Bpnt1是一种重要的酶,参与硫代同化作用代谢途径,影响铁稳态和基因表达。Bpnt1的缺失会导致铁缺乏性贫血和水肿,而Bpnt1的表达受到饮食、激素和药物的影响。此外,Bpnt1还与牛的繁殖性状和胃癌的预后相关。Bpnt1的研究有助于深入理解硫代同化作用代谢途径的生物学功能和疾病发生机制,为疾病的治疗和预防提供新的思路和策略。

参考文献:
1. Hale, Andrew T, Brown, Rachel E, Luka, Zigmund, Williams, Christopher S, York, John D. 2020. Modulation of sulfur assimilation metabolic toxicity overcomes anemia and hemochromatosis in mice. In Advances in biological regulation, 76, 100694. doi:10.1016/j.jbior.2020.100694. https://pubmed.ncbi.nlm.nih.gov/32019729/
2. Newhouse, Daniel J, Barcelo-Serra, Margarida, Tuttle, Elaina M, Gonser, Rusty A, Balakrishnan, Christopher N. 2019. Parent and offspring genotypes influence gene expression in early life. In Molecular ecology, 28, 4166-4180. doi:10.1111/mec.15205. https://pubmed.ncbi.nlm.nih.gov/31421010/
3. Talukder, A K, Rabaglino, M B, Browne, J A, Charpigny, G, Lonergan, P. 2023. Dose- and time-dependent effects of interferon tau on bovine endometrial gene expression. In Theriogenology, 211, 1-10. doi:10.1016/j.theriogenology.2023.07.033. https://pubmed.ncbi.nlm.nih.gov/37549523/
4. Miki, Takashi S, Carl, Sarah H, Stadler, Michael B, Großhans, Helge. 2016. XRN2 Autoregulation and Control of Polycistronic Gene Expresssion in Caenorhabditis elegans. In PLoS genetics, 12, e1006313. doi:10.1371/journal.pgen.1006313. https://pubmed.ncbi.nlm.nih.gov/27631780/
5. Spiegelberg, Bryan D, Dela Cruz, June, Law, Tzuo-Hann, York, John D. 2004. Alteration of lithium pharmacology through manipulation of phosphoadenosine phosphate metabolism. In The Journal of biological chemistry, 280, 5400-5. doi:. https://pubmed.ncbi.nlm.nih.gov/15583009/
6. Hudson, Benjamin H, Hale, Andrew T, Irving, Ryan P, Li, Shenglan, York, John D. 2018. Modulation of intestinal sulfur assimilation metabolism regulates iron homeostasis. In Proceedings of the National Academy of Sciences of the United States of America, 115, 3000-3005. doi:10.1073/pnas.1715302115. https://pubmed.ncbi.nlm.nih.gov/29507250/
7. Melo, Thaise P, Fortes, Marina R S, Fernandes Junior, Gerardo A, Albuquerque, Lucia G, Carvalheiro, Roberto. . RAPID COMMUNICATION: Multi-breed validation study unraveled genomic regions associated with puberty traits segregating across tropically adapted breeds1. In Journal of animal science, 97, 3027-3033. doi:10.1093/jas/skz121. https://pubmed.ncbi.nlm.nih.gov/30997484/
8. Luo, Tianqi, Du, Yufei, Duan, Jinling, Chen, Yongming, Chen, Yingbo. . Development and Validation of a Scoring System Based on 9 Glycolysis-Related Genes for Prognosis Prediction in Gastric Cancer. In Technology in cancer research & treatment, 19, 1533033820971670. doi:10.1177/1533033820971670. https://pubmed.ncbi.nlm.nih.gov/33161837/
9. Meisel, Joshua D, Kim, Dennis H. 2016. Inhibition of Lithium-Sensitive Phosphatase BPNT-1 Causes Selective Neuronal Dysfunction in C. elegans. In Current biology : CB, 26, 1922-8. doi:10.1016/j.cub.2016.05.050. https://pubmed.ncbi.nlm.nih.gov/27397889/