U2af2-KO Mouse
一般名
U2af2-KO
製品ID
S-KO-05616
背景情報
C57BL/6JCya
系統ID
KOCMP-22185-U2af2-B6J-VA
状況
このマウス系統を論文で使用する場合は、「U2af2-KO Mouse（カタログ番号S-KO-05616）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
U2af2-KO
系統ID
KOCMP-22185-U2af2-B6J-VA
遺伝子名
製品ID
S-KO-05616
遺伝子別名
65kDa
遺伝子別名
C57BL/6JCya
NCBI ID
修正
Conventional knockout
染色体
Chr 7
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
ENSMUST00000209099
NCBIトランスクリプトID
NM_001205231
ターゲット領域
Exon 2~11
有効領域の大きさ
~10.8 kb
遺伝子研究の概要
U2af2, also known as U2 small nuclear RNA auxiliary factor 2, is an indispensable pre-mRNA splicing factor in the early splicing process. It plays a crucial role in ensuring splicing fidelity by selecting the intronic polypyrimidine sequence of premature mRNA [1,5,7]. The U2AF1/U2AF2 heterodimer is critical for 3' splice site (3'SS) definition [8]. This function is essential for normal gene expression and is involved in various biological processes such as neural development and cell proliferation.
In neurodevelopmental diseases, a presumed missense variant (c.603G>T) in the U2AF2 gene has been reported to cause exon 6 skipping in the U2AF2 mRNA transcript, leading to a truncated protein (p.E163_E201del) and inhibiting the proliferation of patient lymphocyte cells. This expands the phenotypic and genetic spectrum of U2AF2-related neurodevelopmental diseases [1]. Additionally, variants in U2AF2 are hypothesized to cause a novel neurodevelopmental disorder, with patients showing features like global developmental delay, dysmorphic features, and epilepsy [2]. In Drosophila, neural loss-of-function of the ortholog U2af50 led to lethality, abnormal mushroom body patterning, and social deficits, which helps understand the role of U2af2 in neural development [4]. In triple-negative breast cancer, U2AF2-SNORA68 promotes cancer stemness by retaining RPL23 in the nucleolus and increasing c-Myc expression [3]. In glioma stem cells, U2AF2 is part of a feedback loop (U2AF2 /circRNA ARF1/miR-342-3p/ISL2) that regulates angiogenesis [6].
In conclusion, U2af2 is essential for pre-mRNA splicing, which is fundamental to normal biological function. Studies, including those using model organisms like Drosophila, have revealed its significance in neurodevelopmental diseases, breast cancer, and glioma angiogenesis. Understanding U2af2's function provides insights into the pathogenesis of these diseases and may offer potential therapeutic targets.
References:
1. Wang, Xiaole, You, Baiyang, Yin, Fei, Pang, Nan, Peng, Jing. 2023. A presumed missense variant in the U2AF2 gene causes exon skipping in neurodevelopmental diseases. In Journal of human genetics, 68, 375-382. doi:10.1038/s10038-023-01128-2. https://pubmed.ncbi.nlm.nih.gov/36747105/
2. Kittock, Claire M, Saifeddine, Mohamad, Straight, Lisa, Ward, D Isum. 2023. U2AF2 variant in a patient with developmental delay, dysmorphic features, and epilepsy. In American journal of medical genetics. Part A, 191, 1968-1972. doi:10.1002/ajmg.a.63221. https://pubmed.ncbi.nlm.nih.gov/37092751/
3. Zhang, Wenrong, Song, Xinyue, Jin, Zining, Jin, Feng, Zheng, Ang. 2024. U2AF2-SNORA68 promotes triple-negative breast cancer stemness through the translocation of RPL23 from nucleoplasm to nucleolus and c-Myc expression. In Breast cancer research : BCR, 26, 60. doi:10.1186/s13058-024-01817-6. https://pubmed.ncbi.nlm.nih.gov/38594783/
4. Li, Dong, Wang, Qin, Bayat, Allan, Song, Yuanquan, Hakonarson, Hakon. 2024. Spliceosome malfunction causes neurodevelopmental disorders with overlapping features. In The Journal of clinical investigation, 134, . doi:10.1172/JCI171235. https://pubmed.ncbi.nlm.nih.gov/37962958/
5. Maji, Debanjana, Glasser, Eliezra, Henderson, Steven, Jenkins, Jermaine L, Kielkopf, Clara L. 2020. Representative cancer-associated U2AF2 mutations alter RNA interactions and splicing. In The Journal of biological chemistry, 295, 17148-17157. doi:10.1074/jbc.RA120.015339. https://pubmed.ncbi.nlm.nih.gov/33020180/
6. Jiang, Yang, Zhou, Jinpeng, Zhao, Junshuang, Zheng, Wei, Jing, Zhitao. 2020. The U2AF2 /circRNA ARF1/miR-342-3p/ISL2 feedback loop regulates angiogenesis in glioma stem cells. In Journal of experimental & clinical cancer research : CR, 39, 182. doi:10.1186/s13046-020-01691-y. https://pubmed.ncbi.nlm.nih.gov/32894165/
7. Rozza, Riccardo, Saltalamacchia, Andrea, Orrico, Clarissa, Janoš, Pavel, Magistrato, Alessandra. 2022. All-Atom Simulations Elucidate the Impact of U2AF2 Cancer-Associated Mutations on Pre-mRNA Recognition. In Journal of chemical information and modeling, 62, 6691-6703. doi:10.1021/acs.jcim.2c00511. https://pubmed.ncbi.nlm.nih.gov/36040856/
8. Biancon, Giulia, Joshi, Poorval, Zimmer, Joshua T, Tebaldi, Toma, Halene, Stephanie. . Precision analysis of mutant U2AF1 activity reveals deployment of stress granules in myeloid malignancies. In Molecular cell, 82, 1107-1122.e7. doi:10.1016/j.molcel.2022.02.025. https://pubmed.ncbi.nlm.nih.gov/35303483/
品質管理基準
精子検査
凍結前の精子濃度を測定し、精子の生存能力の判定します。
凍結後の精子では、各バッチから1本の凍結保存された精子を選び出し、体外受精に使用します。
環境基準:
SPF対応地域:
グローバル由来:
Cyagenお問い合わせ
カスタムの動物モデルに関するご相談は、下記のフォームにご記入いただき、ご連絡いただくか見積もりをご依頼ください。
Cyagenはお客様のプライバシーを大変重視しています。当社の最新の製品や情報をお届けしたいと思っています。お客様の設定をご確認ください。
これらの配信はいつでも解除できます。配信停止方法およびデータ保護の詳細は プライバシーポリシー をご確認ください。
以下のボタンをクリックすることで、このフォームにご入力いただいた個人情報をCyagenが保存・処理し、ご要望のコンテンツを提供することに同意されたことになります。