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Dissecting the molecular basis and assembly of a complex morphological trait

剖析复杂形态特征的分子基础和组装

基本信息

批准号：
8861499
负责人：
Peter Andolfatto
金额：
$ 45.78万
依托单位：
PRINCETON UNIVERSITY
依托单位国家：
美国
项目类别：
财政年份：
2015
资助国家：
美国
起止时间：
2015-05-01 至 2019-01-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/8861499
关键词：
Abdomen Address Affect Alleles Behavior Biological Models Biology Chromosomes Chromosomes, Human, Pair 3 Clustered Regularly Interspaced Short Palindromic Repeats Color Complex Control Locus DNA Development Dissection Drosophila genus Drosophila melanogaster Enzymes Event Evolution Exhibits Gene Mutation Genes Genetic Techniques Genome Genomics Goals Human In Situ Hybridization Individual Island Knowledge Lead Life Literature Maps Modeling Molecular Molecular Genetics Molecular Profiling Morphology Mutation Pathway interactions Pattern Phenotype Pigmentation physiologic function Pigments Polygenic Traits Population Process Proteins Quantitative Trait Loci Regulation Relative (related person)Research Resistance Role Rosa Shapes System Techniques Time Transgenic Organisms Uncertainty Variant Work base functional genomics gene function genetic evolution genome editing genome-wide male mutant population survey public health relevance reconstruction sample fixation trait transcriptome sequencing

项目摘要

DESCRIPTION (provided by applicant): The goal of this research is to dissect the causative genes and mutations underlying a complex trait, and trace the stepwise process by which the identified causative alleles arose and spread through an isolated population to generate a fixed morphological phenotype. The species Drosophila santomea exhibits a recently evolved, drastic shift in its pigment patterns that represents an optimal model system in which to dissect complex polygenic traits. Our previous work identified the gene underlying one of four major QTL contributing to this trait. Analysis of multiple individuals in the population revealed that causative alleles of this gene arose several times in parallel in the D. santomea population (i.e. a "soft sweep"). Here, we propose to employ molecular genetic techniques (introgression mapping and transgenic complementation) to identify causative genes and mutations responsible for two additional QTL. Using a combination of molecular and genomic techniques (in situ hybridization, RNA-seq), we will then assess how these loci interact with each other, as well as how they impact the genome-wide profile of expression. Finally, we will survey population variation at these additional causative loci to assess whether a similar soft sweep occurred, and determine whether these genes exhibit signs of positive selection. This study will provide a rare vista of a complex morphological trait that integrates molecular studies of gene function with processes occurring at the population level.

描述（由申请人提供）：这项研究的目标是剖析复杂性状背后的致病基因和突变，并追踪已识别的致病等位基因在孤立群体中产生和传播以产生固定形态表型的逐步过程。桑托梅果蝇物种在其色素模式上表现出最近进化的巨大转变，这代表了剖析复杂多基因性状的最佳模型系统。我们之前的工作确定了导致这一性状的四个主要 QTL 之一的基因。对群体中多个个体的分析表明，该基因的致病等位基因在 D. santomea 群体中平行出现多次（即“软扫描”）。在这里，我们建议采用分子遗传学技术（基因渗入作图和转基因互补）来识别导致两个额外 QTL 的致病基因和突变。然后，我们将结合分子和基因组技术（原位杂交、RNA-seq）评估这些基因座如何相互作用，以及它们如何影响全基因组表达谱。最后，我们将调查这些额外致病位点的群体变异，以评估是否发生了类似的软扫描，并确定这些基因是否表现出正选择的迹象。这项研究将为复杂形态特征提供罕见的前景，它将基因功能的分子研究与群体水平上发生的过程结合起来。