Cep57-KO 基因敲除小鼠

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产品名称

Cep57-KO 基因敲除小鼠

产品编号

S-KO-14394

品系全称

C57BL/6JCya-Cep57em1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-74360-Cep57-B6J-VA

品系状态

使用本品系发表的文献需注明: Cep57-KO 基因敲除小鼠 mice (Strain S-KO-14394) 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
centrosomal protein 57
基因别称
3110002L15Rik,4921510P06Rik,4931428M20Rik,Tsp57,mKIAA0092
染色体号
Chr 9 (Mouse)
转录本 ID
NCBI: NM_026665.4 | Ensembl: ENSMUST00000034398
修饰方式
全身性基因敲除
靶向范围
Exon 3~10
敲除长度
~9179 bp
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:1915551Mice homozygous for a knock-out allele exhibit complete lethality by E15.5. Mice heterozygous for the allele exhibit increased tumor incidence with aneuploidy. Mice homozygous for a hypomorphic allele exhibit abnormal bone ossification, short curly tails, and neonatal lethality.
Cep57,也称为中心体蛋白57,是一种在细胞分裂过程中发挥重要作用的蛋白质。Cep57主要在中心体和中心粒中表达,参与微管组织的调控,特别是在有丝分裂的中期和后期阶段。Cep57在细胞分裂过程中的关键作用是通过促进中心体微管的组装和稳定来实现的,这对于形成有丝分裂纺锤体和确保染色体正确分离到子细胞中至关重要。Cep57还与细胞分裂的最后一个阶段——细胞质分裂有关,这是细胞分裂完成后,细胞质分裂成两个子细胞的阶段。Cep57在这一过程中通过调节中心纺锤体和中间体的微管组织,确保细胞质分裂的顺利进行。

在人类中,Cep57基因的突变与一种罕见的常染色体隐性遗传疾病——镶嵌性异倍体综合征(MVA)有关。MVA是一种以常染色体非整倍性为特征的疾病,表现为多种器官和组织中的染色体数目异常。Cep57基因突变导致MVA2型的发生,这是MVA的一种亚型,表现为生长发育迟缓、面部畸形、内分泌异常、心血管和骨骼异常等症状。目前,已报道的MVA2病例相对较少,但研究显示,Cep57基因突变可能导致细胞分裂过程中染色体分离异常,进而导致多种组织和器官的异常发育。

此外,Cep57基因的突变还可能与某些癌症的发生有关。例如,有研究发现,Cep57基因的突变可能与皮肤癌的发生有关,这表明Cep57在维持细胞分裂的稳定性和正常进行中具有重要作用。然而,这一发现需要进一步的研究来证实,并阐明Cep57基因突变在癌症发生发展中的具体作用机制。

综上所述,Cep57基因在细胞分裂过程中发挥重要作用,其突变与MVA2型疾病的发生密切相关。此外,Cep57基因的突变还可能与某些癌症的发生有关。对Cep57基因的研究有助于深入理解细胞分裂的调控机制,为相关疾病的治疗和预防提供新的思路和策略[1][2][3][4][5][6][7][8][9][10]。

参考文献:
1. Pinson, Lucile, Mannini, Linda, Willems, Marjolaine, Lefort, Geneviève, Musio, Antonio. 2013. CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome. In American journal of medical genetics. Part A, 164A, 177-81. doi:10.1002/ajmg.a.36166. https://pubmed.ncbi.nlm.nih.gov/24259107/
2. He, Runsheng, Wu, Qixi, Zhou, Haining, Chen, Jianguo, Teng, Junlin. 2013. Cep57 protein is required for cytokinesis by facilitating central spindle microtubule organization. In The Journal of biological chemistry, 288, 14384-14390. doi:10.1074/jbc.M112.441501. https://pubmed.ncbi.nlm.nih.gov/23569207/
3. Pezzani, Lidia, Pezzoli, Laura, Pansa, Alessandra, Cereda, Anna, Iascone, Maria. 2020. Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype? In Molecular genetics & genomic medicine, 8, e1064. doi:10.1002/mgg3.1064. https://pubmed.ncbi.nlm.nih.gov/31943948/
4. Langeh, Nitika, Saluja, Sumedha, Ethayathulla, Abdul Samath, Palanichamy, Jayanth Kumar, Gupta, Neerja. 2023. Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum. In Clinical genetics, 103, 478-483. doi:10.1111/cge.14297. https://pubmed.ncbi.nlm.nih.gov/36635612/
5. Santos-Simarro, Fernando, Pacio, Marta, Cueto-González, Anna María, García-Miñaúr, Sixto, Palomares-Bralo, María. 2021. Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype. In European journal of medical genetics, 64, 104338. doi:10.1016/j.ejmg.2021.104338. https://pubmed.ncbi.nlm.nih.gov/34500087/
6. Wang, Hanwen, Zhou, Ziheng, Liu, Yiling, Xie, Julin, Tang, Jinming. 2022. Identification and validation of HOXD3 and UNC5C as molecular signatures in keloid based on weighted gene co-expression network analysis. In Genomics, 114, 110403. doi:10.1016/j.ygeno.2022.110403. https://pubmed.ncbi.nlm.nih.gov/35709926/
7. Dery, Tania, Chatron, Nicolas, Alqahtani, Amerh, Lesca, Gaetan, Putoux, Audrey. 2020. Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome. In European journal of medical genetics, 63, 104044. doi:10.1016/j.ejmg.2020.104044. https://pubmed.ncbi.nlm.nih.gov/32861809/
8. De la Torre-García, Oliver, Mar-Aldama, Roberto, Salgado-Sangri, Ramón, Orozco, Lorena, Martínez-Hernández, Angélica. 2018. A homozygous CEP57 c.915_925dupCAATGTTCAGC mutation in a patient with mosaic variegated aneuploidy syndrome with rhizomelic shortening in the upper and lower limbs and a narrow thorax. In European journal of medical genetics, 62, 195-197. doi:10.1016/j.ejmg.2018.07.013. https://pubmed.ncbi.nlm.nih.gov/30010053/
9. Sanna, Marianna, Li, Xin, Visconti, Alessia, Han, Jiali, Falchi, Mario. 2020. Looking for Sunshine: Genetic Predisposition to Sun Seeking in 265,000 Individuals of European Ancestry. In The Journal of investigative dermatology, 141, 779-786. doi:10.1016/j.jid.2020.08.014. https://pubmed.ncbi.nlm.nih.gov/32920024/
10. He, Wangchao, Sun, Yu, Qiang, Jiaxu, Zhang, Chun, Liu, Shaojun. 2021. Structural Abnormalities of Spermatozoa in Triploid Gynogenetic Crucian Carp (Carassius auratus). In Frontiers in genetics, 12, 783014. doi:10.3389/fgene.2021.783014. https://pubmed.ncbi.nlm.nih.gov/34868272/