Dissecting out differential molecular phenotypes across Lysine(K) AcetylTransferase mutations in mouse development
剖析小鼠发育过程中赖氨酸(K)乙酰转移酶突变的差异分子表型
基本信息
- 批准号:10727966
- 负责人:
- 金额:$ 23.05万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2023
- 资助国家:美国
- 起止时间:2023-08-01 至 2025-07-31
- 项目状态:未结题
- 来源:
- 关键词:AcetylationAcetyltransferaseAffectAutomobile DrivingBarberingBrainCellsChildChildhoodChromatinComplexCongenital Heart DefectsDNADevelopmentDevelopmental Delay DisordersDevelopmental ProcessDiarrheaDiseaseEpigenetic ProcessEyeGastrointestinal tract structureGenesGeneticGenetic TranscriptionGoalsHeartIndividualIntellectual functioning disabilityKidneyLinkLysineModelingMutationOrganPathogenicityPatientsProtein TruncationProteinsRoleSeveritiesSpecific qualifier valueSymptomsSyndromeSystemTransferaseTransgenic MiceVariantassociated symptomautism spectrum disorderbody systembonecell typediagnostic valueearly childhoodexome sequencinghistone acetyltransferaseimprovedmolecular phenotypemouse developmentmouse model
项目摘要
PROJECT ABSTRACT
Epigenetic factors are genes that encode proteins that can affect spatial organization of DNA and the
accessibility of genetic regions to transcriptional machinery, thereby regulating cell-type specific transcription.
Pathogenic mutations in established epigenes are highly enriched in children with pediatric syndromic disorders,
often with symptoms that affect multiple organ systems, such as the brain, heart, gastrointestinal tract, bone, eye
and kidneys. The associated symptoms of intellectual disability, developmental delays, autism, diarrhea and
congenital heart defects vary in severity between individuals. The onset of these syndromes during early
childhood suggest that many of these epigenetic factors are critical to early developmental processes and cell-
fate transitions. Despite our improved diagnostic ability with exome sequencing, the mechanistic link between
epigenetic factor mutations and the direct mechanisms by which they disrupt mammalian developmental
processes remains unknown. Histone acetyltransferases (HATs) are genes that acetylate lysine (K) residues
and represent a common mechanism for controlling DNA accessibility to the transcriptional machinery. Here, we
study protein-truncating variants in two HATs: Lysine (K), Acetyl transferase 6A and 6B (KAT6A and KAT6B),
which cause Arboleda-Tham Syndrome (ARTHS) and Genitopatellar Syndrome (GPS) or Say-Barber-Biesecker-
Young Syndrome (SBBYS), respectively. Our goal is to develop and validate transgenic mouse models harboring
patient-specific mutations in these genes to establish the differential roles of these epigenetic factors on cell
specification during development driving the distinct syndromes.
项目摘要
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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Valerie A Arboleda其他文献
IN VITRO EFFECTS OF A SINGLE NUCLEOTIDE POLYMORPHISM ON EXPRESSION OF EXTRACELLULAR MATRIX PROTEIN LAMININ GAMMA-1 (LAMC1)
- DOI:
10.1016/s0022-5347(08)61305-1 - 发表时间:
2008-04-01 - 期刊:
- 影响因子:
- 作者:
Valerie A Arboleda;Christian O Twiss;Eric Vilain;Larissa V Rodriguez - 通讯作者:
Larissa V Rodriguez
REAL TIME IN VIVO TRACKING OF STEM CELL BASED THERAPIES: COMPARISON OF IN VIVO IMAGING TO BIOCHEMICAL TISSUE ASSAY
- DOI:
10.1016/s0022-5347(08)61997-7 - 发表时间:
2008-04-01 - 期刊:
- 影响因子:
- 作者:
Vanda D Lopez;Valerie A Arboleda;Rong Zhang;Joanne Leung;Larissa V Rodriguez - 通讯作者:
Larissa V Rodriguez
IN VIVO TRACKING AND LOCALIZATION OF ADIPOSE STEM CELLS IN AN ANIMAL MODEL OF STRESS URINARY INCONTINENCE (SUI): INTRAVASCULAR ADMINISTERED CELLS DO NOT HOME TO SITE OF INJURY
- DOI:
10.1016/s0022-5347(08)61390-7 - 发表时间:
2008-04-01 - 期刊:
- 影响因子:
- 作者:
Valerie A Arboleda;Vanda D Lopez;Rong Zhang;Joanne Leung;Larissa V Rodriguez - 通讯作者:
Larissa V Rodriguez
Valerie A Arboleda的其他文献
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{{ truncateString('Valerie A Arboleda', 18)}}的其他基金
Expanding Swabseq sequencing technology to enable readiness for emerging pathogens
扩展 Swabseq 测序技术,为新出现的病原体做好准备
- 批准号:
10719421 - 财政年份:2023
- 资助金额:
$ 23.05万 - 项目类别:
Development of high-throughput cellular models for ASXL1-related diseases
ASXL1相关疾病高通量细胞模型的开发
- 批准号:
10727983 - 财政年份:2023
- 资助金额:
$ 23.05万 - 项目类别:
Human Genetic risk factors for Disseminated Coccidioidomycosis (DCM)
播散性球孢子菌病 (DCM) 的人类遗传危险因素
- 批准号:
10554385 - 财政年份:2022
- 资助金额:
$ 23.05万 - 项目类别:
Human Genetic risk factors for Disseminated Coccidioidomycosis (DCM)
播散性球孢子菌病 (DCM) 的人类遗传危险因素
- 批准号:
10356730 - 财政年份:2022
- 资助金额:
$ 23.05万 - 项目类别:
Genomic Approaches to Population Health in Multi-Ethnic Hospital Systems
多民族医院系统中人口健康的基因组方法
- 批准号:
10264829 - 财政年份:2020
- 资助金额:
$ 23.05万 - 项目类别:
Genomic Approaches to Population Health in Multi-Ethnic Hospital Systems
多民族医院系统中人口健康的基因组方法
- 批准号:
10474584 - 财政年份:2020
- 资助金额:
$ 23.05万 - 项目类别:
Genomic Approaches to Population Health in Multi-Ethnic Hospital Systems
多民族医院系统中人口健康的基因组方法
- 批准号:
10045495 - 财政年份:2020
- 资助金额:
$ 23.05万 - 项目类别:
Genomic Approaches to Population Health in Multi-Ethnic Hospital Systems
多民族医院系统中人口健康的基因组方法
- 批准号:
10676210 - 财政年份:2020
- 资助金额:
$ 23.05万 - 项目类别:
Unraveling correlations between Mendelian and common disease using functional genomics
使用功能基因组学揭示孟德尔与常见疾病之间的相关性
- 批准号:
9351765 - 财政年份:2017
- 资助金额:
$ 23.05万 - 项目类别:
Unraveling correlations between Mendelian and common disease using functional genomics
使用功能基因组学揭示孟德尔与常见疾病之间的相关性
- 批准号:
10247564 - 财政年份:2017
- 资助金额:
$ 23.05万 - 项目类别:
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