Uncovering mechanisms controlling chromosome-specific behaviors during meiosis

项目摘要 减数分裂是一个严格控制的过程，在此过程中二倍体基因组必须分离成单倍体。 配子(即卵子或精子)。染色体数目错误的遗传会导致生育 和先天缺陷。然而，染色体错误分离的原因并不总是保守的。 染色体间的差异和染色体间差异的原因尚不清楚。一键 贡献者似乎要么是完全失去了交叉，要么是异常的交叉放置。 黑腹果蝇是更好地阐明染色体调节的强大模型- 特异杂交及其对染色体分离的影响。在大多数情况下，突变体 在整个基因组中均匀地进行干扰交换，使得很难理解如何 会出现染色体特有的缺陷。然而，最近发现的一组突变基因部分缺失- 功能联会复合体突变体在配对和重组过程中表现出显著不同的缺陷 在X染色体和常染色体上。联会复合体是一种保守的减数分裂结构 它将同源染色体保持在一起，是发生交换所必需的。长的- 这个项目的学期目标是研究联会复合体是如何调节染色体的。 分离所必需的特定重组和减数分裂行为。这项工作将调查1) 联会复合体在调节重组景观中的作用和2) 染色体结构对减数分裂行为的重要性。此外，该项目将 建立一个新的分析单个染色体的工具包。总体而言，该项目将提供见解 涉及到交叉定位的调节和减数分裂染色体生物学。通过研究 个体染色体行为和联会复合体在重组中的重要性， 在理解儿童精神分裂症发生的生物学基础方面可以取得实质性进展。 非整倍体。

Project Summary Meiosis is a tightly controlled process during which the diploid genome must segregate into haploid gametes (i.e. eggs or sperm). Inheritance of the incorrect number of chromosomes causes fertility and birth defects. However, the causes of chromosome missegregation are not always conserved between chromosomes and the reasons for inter-chromosomal differences are still unknown. One key contributor appears to be either a complete loss of crossing over or abnormal crossover placement. Drosophila melanogaster is a powerful model to better elucidate the regulation of chromosome- specific crossing over and the effects on chromosome segregation. In most cases, mutants that disrupt crossing over do so uniformly across the genome making it difficult to understand how chromosome-specific defects occur. However, a recently identified set of mutants in a partial loss-of- function synaptonemal complex mutant exhibit substantially different defects in pairing and recombination on the X chromosome and the autosomes. The synaptonemal complex is a conserved meiotic structure that holds homologous chromosomes together and is necessary for crossing over to occur. The long- term goal of this project is to investigate how the synaptonemal complex regulates chromosome- specific recombination and meiotic behaviors necessary for segregation. This work will investigate 1) the role of the synaptonemal complex in regulating the recombination landscape and 2) the importance of chromosome structure informing meiotic behaviors. Furthermore, this project will establish a new toolkit for analyzing individual chromosomes. Overall, this project will provide insights into both the regulation of crossover location and meiotic chromosome biology. By studying the importance of individual chromosome behaviors and the synaptonemal complex in recombination, substantial advances can be made in understand the biology underlying the development of aneuploidies.