Nonsense mutations and altered splice-site selection.
作者信息
Dietz H C
出版信息
Am J Hum Genet. 1997 Mar;60(3):729-30.
Abstract
摘要
相似文献
1
Nonsense mutations and altered splice-site selection.无义突变和剪接位点选择改变。
Am J Hum Genet. 1997 Mar;60(3):729-30.
2
Qualitative and quantitative analysis of FBN1 mRNA from 16 patients with Marfan Syndrome.对16例马凡综合征患者的FBN1 mRNA进行定性和定量分析。
BMC Med Genet. 2015 Dec 18;16:113. doi: 10.1186/s12881-015-0260-4.
3
Maintenance of an open reading frame as an additional level of scrutiny during splice site selection.在剪接位点选择过程中，维持开放阅读框作为额外的一种审查水平。
Nat Genet. 1994 Oct;8(2):183-8. doi: 10.1038/ng1094-183.
4
The skipping of constitutive exons in vivo induced by nonsense mutations.无义突变在体内诱导组成型外显子跳跃。
Science. 1993 Jan 29;259(5095):680-3. doi: 10.1126/science.8430317.
5
Preferential pre-mRNA utilisation of an upstream cryptic 5' splice site created by a single base deletion mutation in exon 37 of the FBN-1 gene.FBN-1基因第37外显子中单个碱基缺失突变产生的上游隐蔽5'剪接位点的优先前体mRNA利用。
Eur J Biochem. 1998 Aug 15;256(1):221-8. doi: 10.1046/j.1432-1327.1998.2560221.x.
6
Novel human pathological mutations. Gene symbol: FBN1. Disease: Marfan syndrome.新型人类病理突变。基因符号：FBN1。疾病：马凡综合征。
Hum Genet. 2007 Dec;122(5):548.
7
Microcornea and subluxated lenses due to a splicing error in the fibrillin-1 gene in a patient with Marfan syndrome.
Arch Ophthalmol. 2003 Apr;121(4):579-81. doi: 10.1001/archopht.121.4.579.
8
Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities.针对 FBN1 基因未分类错义变异体进行剪接异常的系统筛查。
Clin Genet. 2012 Sep;82(3):223-31. doi: 10.1111/j.1399-0004.2011.01781.x. Epub 2011 Sep 30.
9
An unclassified viariant in the fibrillin-1 gene leading to exon skipping in a patient with Marfan syndrome: the use of minigene assay in splicing analysis.一名马凡综合征患者中导致原纤维蛋白-1基因外显子跳跃的未分类变异：在剪接分析中使用小基因检测法
Clin Chim Acta. 2015 Mar 10;442:84-6. doi: 10.1016/j.cca.2015.01.019. Epub 2015 Jan 28.
10
Novel exon nucleotide substitution at the splice junction causes a neonatal Marfan syndrome.剪接位点上新exon 核苷酸取代导致新生儿马凡综合征。
Clin Genet. 2010 May;77(5):453-63. doi: 10.1111/j.1399-0004.2009.01337.x. Epub 2010 Feb 4.
引用本文的文献
1
CRISPR-induced exon skipping is dependent on premature termination codon mutations.CRISPR 诱导的外显子跳跃依赖于提前终止密码子突变。
Genome Biol. 2018 Oct 17;19(1):164. doi: 10.1186/s13059-018-1532-z.
2
Genetics of isolated growth hormone deficiency.孤立性生长激素缺乏症的遗传学
J Clin Res Pediatr Endocrinol. 2010;2(2):52-62. doi: 10.4274/jcrpe.v2i2.52. Epub 2010 May 1.
3
Noncanonical and canonical splice sites: a novel mutation at the rare noncanonical splice-donor cut site (IVS4+1A>G) of SEDL causes variable splicing isoforms in X-linked spondyloepiphyseal dysplasia tarda.非典型和典型剪接位点：SEDL罕见的非典型剪接供体位点（IVS4+1A>G）处的一种新突变导致迟发性X连锁脊椎骨骺发育不良中的可变剪接异构体。
Eur J Hum Genet. 2009 Apr;17(4):510-6. doi: 10.1038/ejhg.2008.219. Epub 2008 Nov 12.
4
Unspliced Rous sarcoma virus genomic RNAs are translated and subjected to nonsense-mediated mRNA decay before packaging.未剪接的劳氏肉瘤病毒基因组RNA在包装前会被翻译并经历无义介导的mRNA降解。
J Virol. 2004 May;78(10):5139-46. doi: 10.1128/jvi.78.10.5139-5146.2004.
5
The human XPC DNA repair gene: arrangement, splice site information content and influence of a single nucleotide polymorphism in a splice acceptor site on alternative splicing and function.人类XPC DNA修复基因：基因排列、剪接位点信息含量以及剪接受体位点单核苷酸多态性对可变剪接和功能的影响。
Nucleic Acids Res. 2002 Aug 15;30(16):3624-31. doi: 10.1093/nar/gkf469.
6
A nonsense mutation in the fibrillin-1 gene of a Marfan syndrome patient induces NMD and disrupts an exonic splicing enhancer.一名马凡综合征患者的原纤蛋白-1基因中的无义突变诱导了无义介导的mRNA降解（NMD）并破坏了一个外显子剪接增强子。
Genes Dev. 2002 Jul 15;16(14):1754-9. doi: 10.1101/gad.997502.
7
RNA-protein interactions that regulate pre-mRNA splicing.调控前体信使核糖核酸剪接的核糖核酸-蛋白质相互作用。
Gene Expr. 2002;10(1-2):79-92.
8
Binary specification of nonsense codons by splicing and cytoplasmic translation.通过剪接和细胞质翻译对无义密码子进行二元编码
EMBO J. 1998 Jun 15;17(12):3484-94. doi: 10.1093/emboj/17.12.3484.
本文引用的文献
1
Mammalian orthologues of a yeast regulator of nonsense transcript stability.酵母无义转录本稳定性调节因子的哺乳动物直系同源物。
Proc Natl Acad Sci U S A. 1996 Oct 1;93(20):10928-32. doi: 10.1073/pnas.93.20.10928.
2
Defects in RNA splicing and the consequence of shortened translational reading frames.RNA剪接缺陷以及翻译阅读框缩短的后果。
Am J Hum Genet. 1996 Aug;59(2):279-86.
3
Nonsense mutations inhibit RNA splicing in a cell-free system: recognition of mutant codon is independent of protein synthesis.无义突变在无细胞系统中抑制RNA剪接：突变密码子的识别独立于蛋白质合成。
Cell. 1996 May 3;85(3):415-22. doi: 10.1016/s0092-8674(00)81119-8.
4
The skipping of constitutive exons in vivo induced by nonsense mutations.无义突变在体内诱导组成型外显子跳跃。
Science. 1993 Jan 29;259(5095):680-3. doi: 10.1126/science.8430317.
5
Low cytoplasmic mRNA levels of immunoglobulin kappa light chain genes containing nonsense codons correlate with inefficient splicing.含有无义密码子的免疫球蛋白κ轻链基因的细胞质mRNA水平较低与剪接效率低下相关。
EMBO J. 1994 Oct 3;13(19):4617-22. doi: 10.1002/j.1460-2075.1994.tb06783.x.
6
Maintenance of an open reading frame as an additional level of scrutiny during splice site selection.在剪接位点选择过程中，维持开放阅读框作为额外的一种审查水平。
Nat Genet. 1994 Oct;8(2):183-8. doi: 10.1038/ng1094-183.
Zotero 插件