Puf60-KO 基因敲除小鼠

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产品名称

Puf60-KO 基因敲除小鼠

产品编号

S-KO-12540

品系全称

C57BL/6JCya-Puf60em1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-67959-Puf60-B6J-VA

品系状态

使用本品系发表的文献需注明: Puf60-KO 基因敲除小鼠 mice (Strain S-KO-12540) 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
poly-U binding splicing factor 60
基因别称
2410104I19Rik,2810454F19Rik,SIAHBP1
染色体号
Chr 15 (Mouse)
转录本 ID
NCBI: NM_028364 | Ensembl: ENSMUST00000100527
修饰方式
全身性基因敲除
靶向范围
Exon 6~12
敲除长度
~3.0 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:1915209Mice homozygous for a null allele die prior to E4.5. Mice heterozygous for a null allele exhibit with increased organ or bone marrow invasion with poor prognosis in the presence of a Trp53 null allele.
Puf60,全称为Poly(U)-binding splicing factor 60,是一种重要的RNA结合蛋白,主要参与RNA剪接和细胞周期调控等核内过程。Puf60在胚胎发育和细胞增殖中扮演着关键角色,其功能异常与多种人类疾病,如癌症、神经发育障碍和骨骼异常等密切相关。

研究表明,Puf60通过调控细胞周期相关基因的剪接,影响细胞周期进程。例如,Puf60可以控制细胞分裂周期蛋白25C(CDC25C)的剪接,从而影响细胞周期的G2/M转换和细胞增殖[1]。此外,Puf60还参与维持小鼠胚胎干细胞(mESC)的自我更新,通过调控信号转导、细胞分化和细胞凋亡相关基因的表达,维持mESC的干细胞特性[2]。

Puf60基因的变异与多种人类疾病相关。例如,PUF60基因的杂合变异与Verheij综合征相关,这是一种罕见的染色体8q24.3微缺失综合征,患者表现出多种先天性异常,包括眼睑裂、身材矮小、骨骼异常、发育迟缓、腭裂、先天性心脏和肾脏缺陷等[3,4,6]。此外,PUF60基因的变异还与颅面发育不良(CFM)相关,这是一种先天性颅面异常,患者表现出下颌骨和耳部发育不全等症状[5]。Puf60基因的变异还与Klippel-Feil综合征(KFS)相关,这是一种罕见的骨骼发育异常,患者表现出颈椎融合和神经发育障碍等症状[8]。Puf60基因的变异还与Cornelia de Lange综合征(CdLS)相关,这是一种罕见的遗传性疾病,患者表现出生长迟缓、智力障碍和多种先天性异常等[9]。

Puf60基因的变异不仅与人类疾病相关,还与微生物感染和免疫调节相关。例如,日本比目鱼中的Puf60基因受到一种新型miRNA pol-miR-novel_395的调控,参与病原体感染、自噬和凋亡等过程[7]。

综上所述,Puf60是一种重要的RNA结合蛋白,参与调控RNA剪接、细胞周期、胚胎发育和免疫调节等生物学过程。Puf60基因的变异与多种人类疾病相关,包括癌症、神经发育障碍、骨骼异常和先天性异常等。对Puf60基因的研究有助于深入理解其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. Xu, Nan, Ren, Yunpeng, Bao, Yufang, Xie, Gangcai, Wang, Yongbo. 2023. PUF60 promotes cell cycle and lung cancer progression by regulating alternative splicing of CDC25C. In Cell reports, 42, 113041. doi:10.1016/j.celrep.2023.113041. https://pubmed.ncbi.nlm.nih.gov/37682709/
2. Zhang, Yue, Wang, Jiaqi, Ruan, Yan, Liu, Yong, Tian, Yanping. 2022. Genome-Wide CRISPR Screen Identifies Puf60 as a Novel Stemness Gene of Mouse Embryonic Stem Cells. In Stem cells and development, 31, 132-142. doi:10.1089/scd.2021.0309. https://pubmed.ncbi.nlm.nih.gov/35019759/
3. Baum, Emily, Huang, Wenming, Vincent-Delorme, Catherine, Antebi, Adam, Dafsari, Hormos Salimi. 2024. Novel Genetic and Phenotypic Expansion in Ameliorated PUF60-Related Disorders. In International journal of molecular sciences, 25, . doi:10.3390/ijms25042053. https://pubmed.ncbi.nlm.nih.gov/38396730/
4. Toader, Daniela Oana, Ursu, Radu, Bacalbasa, Nicolae, Radavoi, Daniel, Radoi, Viorica. 2021. Identification of a New Variant of PUF60 Gene: Case Presentation and Literature Review. In Cancer diagnosis & prognosis, 1, 213-219. doi:10.21873/cdp.10029. https://pubmed.ncbi.nlm.nih.gov/35399315/
5. Ogawa, Takuya, Xue, Jingyi, Guo, Long, Moriyama, Keiji, Kokitsu-Nakata, Nancy Mizue. 2024. Identification of a de novo PUF60 variant associated with craniofacial microsomia. In American journal of medical genetics. Part A, 194, e63631. doi:10.1002/ajmg.a.63631. https://pubmed.ncbi.nlm.nih.gov/38647383/
6. Grimes, H, Ansari, M, Ashraf, T, Varghese, V, Low, Karen J. 2023. PUF60-related developmental disorder: A case series and phenotypic analysis of 10 additional patients with monoallelic PUF60 variants. In American journal of medical genetics. Part A, 191, 2610-2622. doi:10.1002/ajmg.a.63313. https://pubmed.ncbi.nlm.nih.gov/37303278/
7. Li, Wenrui, Guan, Xiaolu. 2021. PUF60 of Japanese flounder is regulated by pol-miR-novel_395 and involved in pathogen infection, autophagy, and apoptosis. In Developmental and comparative immunology, 123, 104170. doi:10.1016/j.dci.2021.104170. https://pubmed.ncbi.nlm.nih.gov/34144120/
8. Bach, Michal Yacobi, Miron, Sivan Reytan, Kurolap, Alina, Feldman, Hagit Baris. 2024. PUF60 loss-of-function with normal cognition should be considered in the differential diagnosis of Klippel-Feil syndrome. In American journal of medical genetics. Part A, 194, e63550. doi:10.1002/ajmg.a.63550. https://pubmed.ncbi.nlm.nih.gov/38297485/
9. Hoogenboom, Amarens, Falix, Farah A, van der Laan, Liselot, Sadikovic, Bekim, van Haelst, Mieke M. 2024. Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature. In European journal of human genetics : EJHG, 32, 435-439. doi:10.1038/s41431-023-01527-1. https://pubmed.ncbi.nlm.nih.gov/38273166/