Eloc-flox Mouse
一般名
Eloc-flox
製品ID
S-CKO-18342
背景情報
C57BL/6JCya
系統ID
CKOCMP-67923-Eloc-B6J-VB
状況
このマウス系統を論文で使用する場合は、「Eloc-flox Mouse（カタログ番号S-CKO-18342）はサイアジェンから購入しました。」と引用してください。
製品タイプ
年齢
遺伝子型
性別
数量
標準的な配送方法では、少なくとも3匹のヘテロ接合体キャリアを保証しています。ホモ接合体キャリアや指定された性別の個体の繁殖サービスも利用可能です。
基本情報
系統名
Eloc-flox
系統ID
CKOCMP-67923-Eloc-B6J-VB
遺伝子名
製品ID
S-CKO-18342
遺伝子別名
2610043E24Rik, 2610301I15Rik, Tceb1
遺伝子別名
C57BL/6JCya
遺伝子正式名称
elongin C
NCBI ID
修正
Conditional knockout
染色体
Chr 1
表現型
アプリケーション
--
さらに
系統詳細
EnsemblトランスクリプトID
ENSMUST00000187910
NCBIトランスクリプトID
NM_001310470.1
ターゲット領域
Exon 2~4
有効領域の大きさ
~2773 bp
遺伝子研究の概要
Eloc, also known as TCEB1, encodes elongin C, a key component of the VCB-CR (pVHL, elongin C, elongin B, cullin 2 and ring box 1) E3 ubiquitin ligase complex. This complex plays a crucial role in oxygen sensing and the degradation of hypoxia-inducible factors, thus being important in multiple biological processes related to oxygen regulation [1].
In a proband with von Hippel-Lindau disease (VHL) but without a detectable VHL mutation, a de novo pathogenic variant in ELOC (NM_005648.4(ELOC):c.236A>G (p.Tyr79Cys)) was identified. The p.Tyr79Cys substitution, a mutational hotspot in sporadic VHL-competent renal cell carcinoma (RCC), mimics the effects of pVHL deficiency on hypoxic signalling. Analysis of the proband's RCC showed similar findings to somatically ELOC-mutated RCC, suggesting pathogenic ELOC variants as a novel cause for VHL disease [1].
Biallelic ELOC-inactivated RCC, with ELOC mutations in combination with ELOC deletions on chromosome 8q, is considered a novel subtype of renal cancer. Biallelic ELOC and biallelic VHL aberrations were mutually exclusive, and no TSC1, TSC2, or mTOR mutations were identified in ELOC-mutated RCC with biallelic ELOC inactivation, supporting the notion of a distinct tumor entity [2]. ELOC-mutated RCC is also recognized as a novel molecularly defined epithelial renal tumour in the 2022 WHO classification of urogenital tumours [3,5,6,7,8].
In colorectal cancer, USP51 directly binds to Elongin C and forms a functional complex with VHL E3 ligase to regulate the ubiquitin-dependent proteasomal degradation of HIF1A. SUMOylation of ELOC at K32 inhibits its binding to USP51, while SENP1-mediated deSUMOylation promotes this binding, facilitating HIF1A deubiquitination and stabilization, and promoting cancer stemness and chemoresistance [4].
In conclusion, Eloc is essential for the proper function of the VCB-CR E3 ubiquitin ligase complex in oxygen sensing and hypoxia-inducible factor degradation. Its mutations are associated with the development of von Hippel-Lindau disease and a novel subtype of renal cell carcinoma. Studies on Eloc-related mutations in these disease models help to understand the molecular mechanisms of these diseases, providing potential insights for diagnosis and treatment.
References：
1. Andreou, Avgi, Yngvadottir, Bryndis, Bassaganyas, Laia, Snape, Katie, Maher, Eamonn R. . Elongin C (ELOC/TCEB1)-associated von Hippel-Lindau disease. In Human molecular genetics, 31, 2728-2737. doi:10.1093/hmg/ddac066. https://pubmed.ncbi.nlm.nih.gov/35323939/
2. Batavia, Aashil A, Rutishauser, Dorothea, Sobottka, Bettina, Beerenwinkel, Niko, Moch, Holger. 2023. Biallelic ELOC-Inactivated Renal Cell Carcinoma: Molecular Features Supporting Classification as a Distinct Entity. In Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 36, 100194. doi:10.1016/j.modpat.2023.100194. https://pubmed.ncbi.nlm.nih.gov/37088333/
3. Moch, Holger, Amin, Mahul B, Berney, Daniel M, Cree, Ian, Netto, George J. 2022. The 2022 World Health Organization Classification of Tumours of the Urinary System and Male Genital Organs-Part A: Renal, Penile, and Testicular Tumours. In European urology, 82, 458-468. doi:10.1016/j.eururo.2022.06.016. https://pubmed.ncbi.nlm.nih.gov/35853783/
4. Mu, Mingchao, Zhang, Qin, Li, Jing, Sun, Xuejun, Yu, Junhui. 2023. USP51 facilitates colorectal cancer stemness and chemoresistance by forming a positive feed-forward loop with HIF1A. In Cell death and differentiation, 30, 2393-2407. doi:10.1038/s41418-023-01228-8. https://pubmed.ncbi.nlm.nih.gov/37816999/
5. Alaghehbandan, Reza, Siadat, Farshid, Trpkov, Kiril. 2023. What's new in the WHO 2022 classification of kidney tumours? In Pathologica, 115, 8-22. doi:10.32074/1591-951X-818. https://pubmed.ncbi.nlm.nih.gov/36645398/
6. Rizzo, Mimma, Caliò, Anna, Brunelli, Matteo, Martignoni, Guido, Camillo, Porta. 2023. Clinico-pathological implications of the 2022 WHO Renal Cell Carcinoma classification. In Cancer treatment reviews, 116, 102558. doi:10.1016/j.ctrv.2023.102558. https://pubmed.ncbi.nlm.nih.gov/37060647/
7. Mohanty, Sambit K, Lobo, Anandi, Cheng, Liang. 2022. The 2022 revision of the World Health Organization classification of tumors of the urinary system and male genital organs: advances and challenges. In Human pathology, 136, 123-143. doi:10.1016/j.humpath.2022.08.006. https://pubmed.ncbi.nlm.nih.gov/36084769/
8. Goswami, Parth R, Singh, Gyanendra, Patel, Tarang, Dave, Rushang. 2024. The WHO 2022 Classification of Renal Neoplasms (5th Edition): Salient Updates. In Cureus, 16, e58470. doi:10.7759/cureus.58470. https://pubmed.ncbi.nlm.nih.gov/38765391/
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