Lrrc34-KO 基因敲除小鼠

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产品名称

Lrrc34-KO 基因敲除小鼠

产品编号

S-KO-13695

品系全称

C57BL/6JCya-Lrrc34em1/Cya

品系背景

C57BL/6JCya

品系编号

KOCMP-71827-Lrrc34-B6J-VA

品系状态

使用本品系发表的文献需注明: Lrrc34-KO 基因敲除小鼠 mice (Strain S-KO-13695) 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
leucine rich repeat containing 34
基因别称
1700007J06Rik,SPATA34
染色体号
Chr 3 (Mouse)
转录本 ID
NCBI: NM_027941.1 | Ensembl: ENSMUST00000029252
修饰方式
全身性基因敲除
靶向范围
Exon 6~9
敲除长度
~5089 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:1919077Homozygous knockout does not affect fertility or spermatogenesis.
Lrrc34,也称为Leucine-rich repeat-containing 34,是一种包含丰富亮氨酸重复序列的基因。Lrrc34的表达在多能干细胞中高度丰富,而在细胞分化过程中则显著下调。这一现象提示Lrrc34可能在维持细胞多能性方面发挥重要作用。

研究表明,Lrrc34与Oct4相互作用,Oct4是维持干细胞多能性的关键转录因子之一。Lrrc34的下调会显著降低端粒酶活性和端粒长度,同时影响与端粒长度相关的基因的表达。此外,Lrrc34的核定位及其与核仁蛋白Nucleophosmin和Nucleolin的相互作用表明,Lrrc34可能参与核糖体的生物合成过程。Lrrc34的表达水平与多能性相关基因的表达水平呈正相关,进一步支持了其在维持细胞多能性方面的作用。

在人类疾病中,Lrrc34的变异与多种疾病的发生和发展相关。例如,Lrrc34的变异与原发纤毛功能障碍(ciliopathies)的发生有关。Lrrc34的变异还会影响甲状腺癌的发生风险,例如,Lrrc34的变异会影响其与RANBP1的结合,进而影响RanGTP水平和细胞凋亡。此外,Lrrc34的变异还会影响系统性硬化症的发生风险。

在生殖细胞中,Lrrc34的表达也具有重要作用。研究表明,Lrrc34在精原干细胞(SSCs)中的表达水平很高,并且对于SSCs的体外增殖至关重要。Lrrc34的瞬时敲低会导致SSCs的集落大小减小,并显著改变其转录组和凋亡途径。

综上所述,Lrrc34在维持细胞多能性、调控端粒长度、参与核糖体生物合成以及影响多种人类疾病的发生和发展等方面具有重要作用。Lrrc34的研究有助于深入理解细胞多能性和人类疾病的发生机制,为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. Shamseldin, Hanan E, Shaheen, Ranad, Ewida, Nour, Seidahmed, Mohammed Zain, Alkuraya, Fowzan S. 2020. The morbid genome of ciliopathies: an update. In Genetics in medicine : official journal of the American College of Medical Genetics, 22, 1051-1060. doi:10.1038/s41436-020-0761-1. https://pubmed.ncbi.nlm.nih.gov/32055034/
2. Nolte, Jessica. 2021. Lrrc34 Interacts with Oct4 and Has an Impact on Telomere Length in Mouse Embryonic Stem Cells. In Stem cells and development, 30, 1093-1102. doi:10.1089/scd.2021.0113. https://pubmed.ncbi.nlm.nih.gov/34549596/
3. Comiskey, Daniel Forrest, He, Huiling, Liyanarachchi, Sandya, Brock, Pamela L, de la Chapelle, Albert. 2020. Variants in LRRC34 reveal distinct mechanisms for predisposition to papillary thyroid carcinoma. In Journal of medical genetics, 57, 519-527. doi:10.1136/jmedgenet-2019-106554. https://pubmed.ncbi.nlm.nih.gov/32051256/
4. Ou, Jin Huan, Li, Yi Ran, Wang, Zhi Peng, Wang, Lin Fang, Song, Wei. . Lrrc34 Is Highly Expressed in SSCs and Is Necessary for SSC Expansion In Vitro. In Chinese medical sciences journal = Chung-kuo i hsueh k'o hsueh tsa chih, 35, 20-30. doi:10.24920/003680. https://pubmed.ncbi.nlm.nih.gov/32299535/
5. Lührig, Sandra, Siamishi, Iliana, Tesmer-Wolf, Marieke, Engel, Wolfgang, Nolte, Jessica. 2014. Lrrc34, a novel nucleolar protein, interacts with npm1 and ncl and has an impact on pluripotent stem cells. In Stem cells and development, 23, 2862-74. doi:10.1089/scd.2013.0470. https://pubmed.ncbi.nlm.nih.gov/24991885/
6. Zeid, Dana, Mooney-Leber, Sean, Seemiller, Laurel R, Goldberg, Lisa R, Gould, Thomas J. 2021. Terc Gene Cluster Variants Predict Liver Telomere Length in Mice. In Cells, 10, . doi:10.3390/cells10102623. https://pubmed.ncbi.nlm.nih.gov/34685603/
7. Coutts, Fiona, Palmos, Alish B, Duarte, Rodrigo R R, Dima, Danai, Powell, Timothy R. 2018. The polygenic nature of telomere length and the anti-ageing properties of lithium. In Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology, 44, 757-765. doi:10.1038/s41386-018-0289-0. https://pubmed.ncbi.nlm.nih.gov/30559463/
8. Nevers, Yannis, Prasad, Megana K, Poidevin, Laetitia, Poch, Olivier, Lecompte, Odile. . Insights into Ciliary Genes and Evolution from Multi-Level Phylogenetic Profiling. In Molecular biology and evolution, 34, 2016-2034. doi:10.1093/molbev/msx146. https://pubmed.ncbi.nlm.nih.gov/28460059/
9. Khoruddin, Nurul Ain, Noorizhab, Mohd NurFakhruzzaman, Teh, Lay Kek, Mohd Yusof, Farida Zuraina, Salleh, Mohd Zaki. 2021. Pathogenic nsSNPs that increase the risks of cancers among the Orang Asli and Malays. In Scientific reports, 11, 16158. doi:10.1038/s41598-021-95618-y. https://pubmed.ncbi.nlm.nih.gov/34373545/
10. Wu, Minghua, Assassi, Shervin, Salazar, Gloria A, Varga, John, Mayes, Maureen D. 2016. Genetic susceptibility loci of idiopathic interstitial pneumonia do not represent risk for systemic sclerosis: a case control study in Caucasian patients. In Arthritis research & therapy, 18, 20. doi:10.1186/s13075-016-0923-3. https://pubmed.ncbi.nlm.nih.gov/26792595/