Genetic characterization of a sex-, chromosome-, and tissue-specific mechanism of gene expression regulation

与哺乳动物相似，果蝇（Drosophila melanogaster）具有异形性染色体，雄性有一条X和一条Y染色体，雌性有两条X染色体。在雄性体细胞组织中，单个X染色体的表达通过众所周知的剂量补偿过程上调。在雄性生殖系中，X染色体的表达通过一种尚不清楚的机制被抑制。为了深入了解这一过程，我们将利用两个独立的突变株系D。在雄性生殖系中缺乏X抑制的黑腹动物。通过重组雄性的全基因组测序，我们将绘制影响X抑制的突变和相关基因。我们还将对突变雄性的睾丸转录组进行测序，以表征突变对X连锁基因表达的影响。最后，我们将进行功能实验来验证候选基因，并确定它们在调节基因表达中的作用。这些结果将促进我们对基因表达如何以性别，染色体和组织特异性方式进行调节的理解。

Similar to mammals, the fruit fly Drosophila melanogaster has heteromorphic sex chromosomes, with males having one X and one Y chromosome, and females having two X chromosomes. In male somatic tissues, expression of the single X chromosome is up-regulated through the well-known process of dosage compensation. In the male germline, expression of the X chromosome is suppressed through a mechanism that is not yet understood. To gain insight into this process, we will take advantage of two independent mutant lines of D. melanogaster that are deficient in X suppression in the male germline. Through whole-genome sequencing of recombinant males, we will map the mutations and associated genes that affect X suppression. We will also sequence the testis transcriptome of mutant males to characterize the effect of the mutations on the expression of X-linked genes. Finally, we will perform functional experiments to validate candidate genes and determine their role in regulating gene expression. The results will advance our understanding of how gene expression is regulated in a sex-, chromosome-, and tissue-specific manner.