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Molecular genetics of mammalian larynx and vocal fold development

哺乳动物喉和声带发育的分子遗传学

基本信息

批准号：
10165761
负责人：
Steven Alexander Vokes
金额：
$ 35.78万
依托单位：
UNIVERSITY OF TEXAS AT AUSTIN
依托单位国家：
美国
项目类别：
财政年份：
2017
资助国家：
美国
起止时间：
2017-07-10 至 2023-04-30
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10165761
关键词：
Address Affect Cartilage Cells Cilia Communication Complex Congenital Abnormality Connective Tissue Data Defect Development Developmental Biology Disease Dissection Embryo Enhancers Erinaceidae Etiology Foundations Functional disorder Gene Expression Gene Expression Profile Genes Genetic Genetic Transcription Genomic Segment Goals Histologic Human In Situ Hybridization Knowledge Language Larynx Link Mammalian Genetics Mediating Mediator of activation protein Modeling Modernization Molecular Molecular Genetics Morphogenesis Mus Muscle Mutant Strains Mice Mutation Organ Pathologic Pathology Pathway interactions Patients Pattern Phenotype Population Proteins Quality of life Regulator Genes Social Interaction Speech Structural Congenital Anomalies Structure Syndrome System Systems Biology Tissue Differentiation Tissues Voice Work ciliopathy cilium biogenesis experimental study human model insight mouse genetics mouse model mutant organ growth programs relating to nervous system screening smoothened signaling pathway transcription factor transcriptome sequencing vocal cord vocalization

项目摘要

Abstract: Vocal communication underlies almost every aspect of human social interactions, yet we know almost nothing about the developmental biology of the organs of vocalization, the larynx and vocal folds. This is a significant issue because problems with voice are a common but poorly understood aspect of many human structural birth defects, and the resulting difficulty in communication has a profound effect on patients' quality of life. Here, we propose to develop the mouse as a model for normal and pathological development of the larynx and vocal folds. We will systematically characterize embryonic lineages and gene expression patterns in the diverse tissues of the mouse larynx, and we will characterize pathological laryngeal development in mouse models of human birth defect syndromes. We will also take a systems biology approach to defining gene regulatory circuitry underlying mammalian laryngeal development. By combining genetic fate mapping, molecular genetics, and systems biology, the experiments proposed here will provide a modern foundation from which we can assemble a detailed mechanistic understanding of laryngeal development and gain molecular insights into the etiology of human laryngeal birth defects.

摘要：声音交流几乎是人类社会交往的每一个方面的基础，但我们几乎知道，没有关于发声器官的发育生物学，喉和声带。这是一个重要的问题，因为声音问题是一个常见的，但很少了解的方面，许多人的结构性先天缺陷，以及由此产生的沟通困难，患者的生活质量。在这里，我们建议开发小鼠作为正常和病理模型，喉部和声带的发育。我们将系统地描述胚胎谱系，在小鼠喉的不同组织中的基因表达模式，我们将描述人类出生缺陷综合征小鼠模型中的病理性喉发育。我们还将采用系统生物学方法来定义哺乳动物喉的基因调控回路发展通过结合遗传命运图谱，分子遗传学和系统生物学，这里提出的实验将提供一个现代的基础，我们可以组装一个详细的喉发育的机制的理解，并获得对病因的分子见解，人类喉部先天缺陷