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Single-cell epigenomic phenotyping of IMPC-generated mouse lines lacking chromatin regulators

IMPC 生成的缺乏染色质调节因子的小鼠系的单细胞表观基因组表型分析

基本信息

批准号：
10656250
负责人：
David Uscher Gorkin
金额：
$ 68.39万
依托单位：
EMORY UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
2021
资助国家：
美国
起止时间：
2021-06-01 至 2026-05-31
项目状态：
未结题

来源：
https://reporter.nih.gov/project-details/10656250
关键词：
ATAC-seq Affect Alleles Catalogs Cells Cellular Structures Chromatin Complex Congenital Abnormality DNA Methylation DNA Sequence Data Data Analyses Data Set Defect Development Developmental Biology Diagnostic Disease Elements Embryo Engineering Epigenetic Process Future Gene Expression Gene Expression Profile Gene Expression Regulation Generations Genes Genetic Transcription Goals Health Histologic Human Individual Informatics Instruction International Knock-out Knowledge Longevity Molecular Morphology Mus Mutant Strains Mice Mutate Mutation Nuclear RNA Organism Patients Phenotype Pregnancy Property Reading Regulator Genes Regulatory Element Research Resolution Resources Review Committee Role Technology The Jackson Laboratory Therapeutic Tissue Harvesting Tissues Untranslated RNA Variant Writing cell type disorder risk epigenome epigenomics gene regulatory network genetic information genetic regulatory protein genome database histone modification human disease human tissue in vivo insight large scale production loss of function mutation mammalian genome microCT molecular phenotype mouse genome mutant novel phenotypic data screening sex single cell analysis technology platform transcriptome transcriptome sequencing transcriptomics translational potential web based interface web interface

项目摘要

Project Summary/Abstract The epigenetic machinery is essential for mammalian development, and components of this machinery are mutated in a variety of human diseases. Hundreds of regulatory proteins participate in the reading, writing, and erasing of epigenetic information over the lifespan of an organism. However, the in vivo activity of many of these epigenetic regulators remain inadequately characterized. Here, we leverage IMPC-generated mouse lines lacking epigenetic regulators, together with recent advances in single-cell epigenomic and transcriptomic technologies, to interrogate components of the epigenetic machinery in vivo at the molecular level, and with the cell-type resolution necessary to understand their complex roles in development and disease. The data produced here will reveal gene regulatory defects caused by loss of epigenetic regulators in a diverse panel of tissues and cell types relevant to human congenital malformations. This tissue- and cell-type-resolved view of the effects of mutations in the epigenetic machinery is a critical step in larger efforts to reveal mechanisms of epigenetically- influenced disease risk, interpret non-coding sequence variation, and ultimately to tailor diagnostics and therapeutics to the epigenomic and transcriptomic states of a patient’s disease-contributing cells.

项目总结/文摘