Genomic Deletion and Duplication Coverage in Drosophila

描述（由申请人提供）：果蝇黑腹果蝇被成千上万的生物医学研究人员研究，因为其实验遗传学的复杂性。事实上，许多种类的实验只能在少数非哺乳动物的模式生物中进行，这些模式生物可以进行广泛的遗传操作，比如苍蝇。果蝇和人类的基本细胞过程通常非常相似，因此可以使用果蝇实验遗传学特有的方法在果蝇中进行探索，这些发现可以直接应用于理解人类生物学和疾病。对果蝇遗传实验的研究资源的投资是值得的，因为许多对人类生物医学很重要的实验只有在苍蝇身上才有可能，或者在苍蝇身上最容易进行。果蝇的实验遗传学在很大程度上依赖于染色体的缺失和复制来进行基因的发现和分析。无论研究人员是试图鉴定突变产生异常性状的DNA序列，还是试图确定破坏感兴趣的DNA序列的功能后果，缺失几乎总是用于分析过程。同样，与缺失沿着使用的重复对于分析X染色体上的基因几乎是必不可少的。对于果蝇遗传学家来说，重要的是在实验所需的地方精确定位染色体断裂点的缺失和复制。在布卢明顿果蝇储备中心，NIH和NSF赞助的，全面的果蝇遗传品系库，我们一直致力于为果蝇遗传学家改善删除和复制资源。为了继续我们的努力，我们提出了以下目标：1）完成X染色体片段的一组Y连锁重复的产生，以实现X染色体的完全覆盖，2）通过微阵列分析来表征这些重复的终点，以及3）产生缺失以将基因组细分为12个基因的最大间隔。使用果蝇的遗传学研究直接导致对人类基本生物过程的理解。许多与人类健康和疾病有关的重要实验只有在具有易于操纵的遗传成分的非哺乳动物模式生物中才是可能的或实际的，例如果蝇。果蝇遗传学家需要改进的工具来更有效地完成他们的工作，我们建议改进染色体缺失和重复菌株的选择，这对他们项目的成功至关重要。

DESCRIPTION (provided by applicant): The fly Drosophila melanogaster is studied by thousands of biomedical researchers, because of the sophistication of its experimental genetics. Indeed, many kinds of experiments can be conducted only in the handful of nonmammalian model organisms amenable to extensive genetic manipulation like flies. Basic cellular processes are usually quite similar in flies and humans, so they can be explored in Drosophila using approaches unique to fly experimental genetics and the discoveries can be applied directly to understanding human biology and disease. Investments in research resources for Drosophila genetic experimentation are worthwhile, because many experiments important to human biomedicine are possible only in flies or are conducted most easily in flies. Drosophila experimental genetics relies quite heavily on chromosomal deletions and duplications for gene discovery and analysis. Whether an investigator is trying to identify the DNA sequence mutated to produce an abnormal trait, or trying to determine the functional consequences of disrupting a DNA sequence of interest, deletions are almost always used in the course the analysis. Likewise, duplications used along with deletions are nearly indispensable for analyzing genes on the X chromosome. It is important for fly geneticists to have deletions and duplications with chromosomal breakpoints positioned exactly where they are needed for experiments. At the Bloomington Drosophila Stock Center, the NIH- and NSF-sponsored, comprehensive repository for fly genetic strains, we have worked to improve deletions and duplication resources for fly geneticists. To continue our efforts, we propose the following aims: 1) complete the generation of a set of Y-linked duplications of X chromosome segments for full X chromosome coverage, 2) characterize the endpoints of these duplications by microarray analysis, and 3) generate deletions to subdivide the genome into maximal intervals of 12 genes. Genetic studies using the fly Drosophila melanogaster lead directly to understanding basic biological processes in humans. Many important experiments related to human health and disease are possible or practical only in nonmammalian model organisms with readily-manipulated genetic components, such as Drosophila. Fly geneticists need improved tools to do their work more effectively and we propose to improve the selections of chromosomal deletion and duplication strains so crucial to the success of their projects.