Genetics and evolution of gene copy number polymorphism

基因拷贝数多态性的遗传学和进化

• 批准号: 7437344
• 负责人: ERIK B DOPMAN
• 金额: $ 4.96万
• 依托单位: HARVARD UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-07-01 至 2009-06-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7437344
• 关键词: Address; African; Chromosomes; Copy Number Polymorphism; DNA Transposable Elements; Drosophila genus; Drosophila melanogaster; Evolution; Fellowship; Frequencies; Gene Cluster; Gene Dosage; Gene Expression; Gene Expression Regulation; Genes; Genomics; Goals; In Situ Hybridization; Individual; Localized; Names; Numbers; Pattern; Polymerase Chain Reaction; Population; Population Sizes; Research; Research Training; Testing; Time; Training; Variant; Work; comparative genomic hybridization; genetic evolution; trafficking

DESCRIPTION (provided by applicant): The goal of the proposed research is to address a critical gap in our understanding of the origin and evolution of gene copy number polymorphism within species. Preliminary work suggests copy number variation exists in Drosophila melanogaster; therefore, my training goals are to study the genetics and evolution of copy number variation in two species of Drosophila. The broad, long term objectives of the proposed research are (i) to characterize and quantify variation in gene copy gains and losses using microarray comparative genomic hybridization (aCGH), PCR, and real-time qPCR; (ii) to broadly define the genomic distribution for copy gains and losses using in situ hybridization of polytene chromosomes; (iii) to characterize new retroposed genes by taking advantages of sequence hallmarks associated with transposition; (iv) to quantify changes in the regulation of gene expression associated with duplicate copies by using real- time RT-qPCR; and (v) to characterize natural variation in gene copy number and expression using qPCR, RT-qPCR, and sequencing. These long-term objectives have been formulated to test specific predictions for genes with variable copies.

描述（由申请人提供）：拟议研究的目标是解决我们对物种内基因拷贝数多态性起源和进化的理解中的关键差距。前期工作表明果蝇中存在拷贝数变异，因此，我的培训目标是研究两种果蝇中拷贝数变异的遗传和进化。拟议研究的广泛、长期目标是：（i）使用微阵列比较基因组杂交（aCGH）、PCR和实时qPCR表征和量化基因拷贝获得和丢失的变化;（ii）使用多线染色体原位杂交广泛定义拷贝获得和丢失的基因组分布;（iv）通过使用真实的-时间RT-qPCR来量化与重复拷贝相关的基因表达调控的变化;和（v）使用qPCR、RT-qPCR和测序表征基因拷贝数和表达的自然变异。制定这些长期目标是为了测试对具有可变拷贝的基因的特定预测。