Developing in vitro high throughput splicing assays
开发体外高通量剪接测定
基本信息
- 批准号:8890176
- 负责人:
- 金额:$ 19.81万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2014
- 资助国家:美国
- 起止时间:2014-07-14 至 2017-06-30
- 项目状态:已结题
- 来源:
- 关键词:3&apos Splice SiteAddressAffectAlgorithmsAreaBinding SitesBiochemicalBiological AssayBiologyCellsChemistryClinicalClinical ResearchCloningComplementCoupledDNADataDefectDevelopmentDiagnosisDiseaseElementsEngineeringEventExonsGene ExpressionGene Expression ProfilingGenesGenomeGenomic DNAGenomic LibraryGenomicsGenotypeGoalsHealthHumanIn VitroIncubatedIndiumInstitutesIntronsLibrariesLinkMapsMeasurementMethodsModelingMutationNuclear ExtractPatientsPerformanceProcessProtein IsoformsRNARNA SplicingRecurrenceRegulatory ElementResearchRoleSamplingShotgunsSiteSpliceosome Assembly PathwayStagingSystemTechniquesTechnologyTissuesTrans-ActivatorsTranscriptVariantclinically relevantdeep sequencingdesignexomeexome sequencingflexibilityin vivomRNA Precursormembernext generation sequencingpublic health relevanceresearch studytool
项目摘要
DESCRIPTION (provided by applicant):
Pre-mRNA splicing is a critical and regulated processing event where introns are precisely excised from nascent RNA transcripts. As many as one third of all heritable disease mutations result in splicing defects. To better understand the mechanism of splicing we propose a large-scale implementation of classic in vitro splicing assays and assembly assays. We propose to use this technology to map splicing elements around the 3'ss, to map branchpoints upstream of the 3'ss and also to repurpose spent exome sequencing libraries as in-vitro splicing substrates. This final goal stages an in-vitro splicing assay on characterized, genotyped samples with the aim of extracting phenotypic data from a genotyping tool. The existence of millions of characterized sequencing libraries could potentially connect in-vitro discovery to clinically relevant patient diagnosis.
描述(由申请人提供):
前体mRNA剪接是一个关键的和受调控的加工事件,其中内含子被精确地从新生RNA转录物中切除。多达三分之一的遗传性疾病突变导致剪接缺陷。为了更好地理解剪接的机制,我们提出了一个大规模的实施经典的体外剪接测定和组装测定。我们建议使用这种技术来映射3'ss周围的剪接元件,映射3'ss上游的分支点,并将用过的外显子组测序文库重新用作体外剪接底物。这一最终目标是在表征的基因分型样品上进行体外剪接测定,目的是从基因分型工具中提取表型数据。数以百万计的特征化测序文库的存在可能将体外发现与临床相关的患者诊断联系起来。
项目成果
期刊论文数量(0)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
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William G Fairbrother其他文献
William G Fairbrother的其他文献
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{{ truncateString('William G Fairbrother', 18)}}的其他基金
Fine-mapping psychiatricdisease variants that affect post-transcriptional gene regulation
精细绘制影响转录后基因调控的精神疾病变异
- 批准号:
10445082 - 财政年份:2021
- 资助金额:
$ 19.81万 - 项目类别:
Fine-mapping psychiatric disease variants that affect post-transcriptional gene regulation
精细绘制影响转录后基因调控的精神疾病变异
- 批准号:
10415485 - 财政年份:2021
- 资助金额:
$ 19.81万 - 项目类别:
A genomic approach to studying the life cycle of intron lariats
研究内含子套索生命周期的基因组方法
- 批准号:
10155500 - 财政年份:2014
- 资助金额:
$ 19.81万 - 项目类别:
A genomic approach to studying the life cycle of intron lariats
研究内含子套索生命周期的基因组方法
- 批准号:
10335280 - 财政年份:2014
- 资助金额:
$ 19.81万 - 项目类别:
A genomic approach to studying the life cycle of intron lariats
研究内含子套索生命周期的基因组方法
- 批准号:
10251555 - 财政年份:2014
- 资助金额:
$ 19.81万 - 项目类别:
A genomic approach to studying the life cycle of intron lariats
研究内含子套索生命周期的基因组方法
- 批准号:
10548251 - 财政年份:2014
- 资助金额:
$ 19.81万 - 项目类别:
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