スプライスジャンクション
WordNet
- join together so as to form new genetic combinations; "splice genes"
- a junction where two things (as paper or film or magnetic tape) have been joined together; "the break was due to an imperfect splice" (同)splicing
- join by interweaving strands; "Splice the wires"
- join the ends of; "splice film"
- the state of being joined together (同)conjunction, conjugation, colligation
- an act of joining or adjoining things (同)adjunction
- something that joins or connects (同)conjunction
- the place where two or more things come together
PrepTutorEJDIC
- 〈綱などの端と端と〉‘を'組み(より)継ぎする;〈材木など)‘を'重ね継ぐ,〈フィルム・テープ〉‘を'つなぐ / 《受動態で》《話》〈二人〉‘を'結婚させる / (綱の)より継ぎ;(材木の)重ね継ぎ;(フィルム・テープの)接合 / より(重ね)継ぎ目
- 〈U〉〈C〉連結すること(された状態),『結合』,連合,合体 / 〈C〉『結合点』,連結(接合,合流)点 / 〈C〉(鉄道の)『連絡駅』,接続駅
UpToDate Contents
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English Journal
- A novel GATA4 loss-of-function mutation responsible for familial dilated cardiomyopathy.
- Zhao L1, Xu JH2, Xu WJ2, Yu H2, Wang Q3, Zheng HZ3, Jiang WF3, Jiang JF2, Yang YQ3.Author information 1Department of Cardiology, Yantaishan Hospital, Yantai, Shandong 264001, P.R. China.2Department of Cardiology, Tongji Hospital, Tongji University School of Medicine, Shanghai 200065, P.R. China.3Department of Cardiology, Shanghai Chest Hospital, Shanghai Jiao Tong University, Shanghai 200030, P.R. China.AbstractDilated cardiomyopathy (DCM) is the most common form of primary myocardial disorder and is associated with substantial morbidity and mortality. Increasing evidence suggests that genetic risk factors play an important role in the pathogenesis of idiopathic DCM. However, DCM is a genetically heterogeneous disease, and the genetic defects responsible for DCM in an overwhelming majority of cases remain to be identified. In the present study, the entire coding region and the splice junction sites of the GATA4 gene, which encodes a cardiac transcription factor essential for cardiogenesis, were sequenced in 150 unrelated patients with idiopathic DCM. The available relatives of the index patient harboring an identified mutation and 200 unrelated ethnically matched healthy individuals used as controls were genotyped. The functional characteristics of the mutant GATA4 were delineated in contrast to its wild-type counterpart using a luciferase reporter assay system. As a result, a novel heterozygous GATA4 mutation, p.V291L, was identified in a family with DCM inherited in an autosomal dominant pattern, which co-segregated with DCM in the family with complete penetrance. The missense mutation was absent in 400 control chromosomes, and the altered amino acid was completely conserved evolutionarily among species. Functional analysis revealed that the GATA4 mutant was associated with significantly diminished transcriptional activity. The findings expand the mutational spectrum of GATA4 linked to DCM and provide novel insight into the molecular etiology involved in DCM, suggesting the potential implications in the early prophylaxis and allele-specific treatment for this common type of cardiomyopathy.
- International journal of molecular medicine.Int J Mol Med.2014 Mar;33(3):654-60. doi: 10.3892/ijmm.2013.1600. Epub 2013 Dec 23.
- Dilated cardiomyopathy (DCM) is the most common form of primary myocardial disorder and is associated with substantial morbidity and mortality. Increasing evidence suggests that genetic risk factors play an important role in the pathogenesis of idiopathic DCM. However, DCM is a genetically heterogen
- PMID 24366163
- Missense mutations (p.H371Y, p.D438Y) in gene CHEK2 are associated with breast cancer risk in women of Balochistan origin.
- Baloch AH, Daud S, Raheem N, Luqman M, Ahmad A, Rehman A, Shuja J, Rasheed S, Ali A, Kakar N, Naseeb HK, Mengal MA, Awan MA, Wasim M, Baloch DM, Ahmad J.Author information Department of Biotechnology and Informatics, BUITEMS, Quetta, Pakistan.AbstractCHEK2 encodes a serine/threonine-protein kinase which plays a critical role in DNA damage signaling pathways. CHEK2 directly phosphorylates and regulates the functions of p53 and BRCA1. Most women with breast and/or ovarian cancer are not carriers of mutant BRCA1 or BRCA2. Multiple studies have shown that a CHEK2*1100delC confers about a two-fold increased risk of breast cancer in unselected females and a tenfold increase in males. Moreover, studies have shown that first-degree relatives of bilateral breast cancer cases who carried the CHEK2*1100delC allele had an eight-fold increased risk of breast cancer. It has been suggested that CHEK2 functions as a low-penetrance susceptibility gene for cancers and multiplies the risks associated with other gene(s) to increase cancer risk. The main goal of this study was to evaluate and to compare the role of truncating mutations, splice junction mutations and rare missense substitutions in breast cancer susceptibility gene CHEK2. Present study was performed on 140 individuals including 70 breast cancer patients both with and without family history and 70 normal individuals. Written consent was obtained and 3 ml intravenous blood was drawn from all the subjects. DNA was extracted from all the samples through inorganic method published already. Primers were synthesized for all the 14 exons of CHEK2 gene. Coding and adjacent intronic sequences of CHEK2 gene were amplified and sequenced. Two genetic variants (p.H371Y, p.D438Y) were found in exon 10 and exon 11 of gene CHEK2 which were not found in any of the 70 control individuals from same geographical area and ethnic group. The genetic variant c.1312G>T (p.D438Y) identified in a patient with a family history of breast cancer. To our knowledge, this is first mutation scanning study of gene CHEK2 from Balochistan population.
- Molecular biology reports.Mol Biol Rep.2014 Feb;41(2):1103-7. doi: 10.1007/s11033-013-2956-x. Epub 2014 Jan 4.
- CHEK2 encodes a serine/threonine-protein kinase which plays a critical role in DNA damage signaling pathways. CHEK2 directly phosphorylates and regulates the functions of p53 and BRCA1. Most women with breast and/or ovarian cancer are not carriers of mutant BRCA1 or BRCA2. Multiple studies have show
- PMID 24390236
- A dedicated microarray for in-depth analysis of pre-mRNA splicing events: application to the study of genes involved in the response to targeted anticancer therapies.
- Pesson M, Eymin B, De La Grange P, Simon B, Corcos L.Author information UMR INSERM U1078-UBO, Equipe ECLA, Faculté de Médecine, 22 Avenue Camille Desmoulins, 29200 Brest, France. laurent.corcos@inserm.fr.AbstractAlternative pre-mRNA splicing (AS) widely expands proteome diversity through the combinatorial assembly of exons. The analysis of AS on a large scale, by using splice-sensitive microarrays, is a highly efficient method to detect the majority of known and predicted alternative transcripts for a given gene. The response to targeted anticancer therapies cannot easily be anticipated without prior knowledge of the expression, by the tumor, of target proteins or genes. To analyze, in depth, transcript structure and levels for genes involved in these responses, including AKT1-3, HER1-4, HIF1A, PIK3CA, PIK3R1-2, VEGFA-D and PIR, we engineered a dedicated gene chip with coverage of an average 185 probes per gene and, especially, exon-exon junction probes. As a proof of concept, we demonstrated the ability of such a chip to detect the effects of over-expressed SRSF2 RNA binding protein on the structure and abundance of mRNA products in H358 lung cancer cells conditionally over-expressing SRSF2. Major splicing changes were observed, including in HER1/EGFR pre-mRNA, which were also seen in human lung cancer samples over-expressing the SRSF2 protein. In addition, we showed that variations in HER1/EGFR pre-mRNA splicing triggered by SRSF2 overexpression in H358 cells resulted in a drop in HER1/EGFR protein level, which correlated with increased sensitivity to gefitinib, an EGFR tyrosine kinase inhibitor. We propose, therefore, that this novel tool could be especially relevant for clinical applications, with the aim to predict the response before treatment.
- Molecular cancer.Mol Cancer.2014 Jan 15;13(1):9. doi: 10.1186/1476-4598-13-9.
- Alternative pre-mRNA splicing (AS) widely expands proteome diversity through the combinatorial assembly of exons. The analysis of AS on a large scale, by using splice-sensitive microarrays, is a highly efficient method to detect the majority of known and predicted alternative transcripts for a given
- PMID 24428911
Japanese Journal
- 光ファイバケーブルのマクロベンディング検出方法提案(アクセスシステム及びアクセス用光部品,光無線システム(ROF,FWA等),光映像伝送(CATV含む),オペレーション/保守監視,光計測,光ファイバ,光ファイバケーブル,一般)
- 笠 史郎,八木 幹雄
- 映像情報メディア学会技術報告 33(52), 109-114, 2009-11-26
- 光ファイバケーブルの接続部で主に生じる、マクロベンディングの曲げ径が一定値以下になると、長波長における損失増加が著しくなるため、その発生箇所の特定は重要である。従来は単一波長のOTDR測定により損失異常を検出していたが、高スプライス損失箇所との区別は必ずしも容易ではなかった。本稿では、2波長でOTDR測定を行い、その結果を解析することで、マクロベンディングの発生箇所を特定する方法を考案し、基礎実験 …
- NAID 110007521839
- 光ファイバケーブルのマクロベンディング検出方法提案(ファイバ応用技術,アクセスシステム及びアクセス用光部品,光無線システム(ROF,FWA等),光映像伝送(CATV含む),オペレーション/保守監視,光計測,光ファイバ,光ファイバケーブル,一般)
- 笠 史郎,八木 幹雄
- 電子情報通信学会技術研究報告. OCS, 光通信システム 109(302), 87-92, 2009-11-19
- 光ファイバケーブルの接続部で主に生じる、マクロベンディングの曲げ径が一定値以下になると、長波長における損失増加が著しくなるため、その発生箇所の特定は重要である。従来は単一波長のOTDR測定により損失異常を検出していたが、高スプライス損失箇所との区別は必ずしも容易ではなかった。本稿では、2波長でOTDR測定を行い、その結果を解析することで、マクロベンディングの発生箇所を特定する方法を考案し、基礎実験 …
- NAID 110007504837
Related Links
- Mutually exclusive exons: One of two exons is retained in mRNAs after splicing, but not both. Alternative donor site: An alternative 5' splice junction (donor site) is used, changing the 3' boundary of the upstream exon. Alternative acceptor site: ...
Related Pictures
★リンクテーブル★
[★]
- 関
- junctional、junctional region、juncture
[★]
- 関
- splicing