Dosage-dependent regulation in hybridization

描述（由申请人提供）：植物形成间倍性或种间杂交种的困难证明了配对亲本在繁殖中的重要性。“不平衡的”亲本贡献导致种子失败。有趣的是，平衡是一种遗传性状，而不仅仅是基因组剂量的结果，因为某些二倍体与四倍体物种比与其他二倍体物种更好地匹配。我们假设染色质和生长的调节是影响植物杂交成功的剂量敏感过程。这一假设得到了以下初步观察的支持：具有相同基因型的拟南芥亲本根据亲本基因组比例产生死或活的杂交种子。种间杂交的种子显示异色重复ATHILA和印迹的、父本表达的转录因子PHE1的剂量依赖性降低。PHE1活性降低可抑制种间杂交的死亡。利用亲本剂量势的遗传变异，我们对倍间性和种间杂交的遗传特征进行了表征，发现两者都受少数QTL控制。母体对间倍性杂交的敏感性响应于转录调节剂TTG2，它在母体组织中调节胚乳的生长。TTG2活性降低导致种子存活，这可能解释了观察到的主要QTL效应。基于这些结果，我们提出：1。确定影响种间和倍间合子后不亲和的QTL的分子基础。2. 研究不匹配配子在种间和倍间交配中融合的转录后果。3. 探讨ATHILA和PHERES1错表达的原因和后果以及不相容的发育后果。该研究将填补我们对植物合子后相容性控制因素的理解空白，并有助于解决染色质和生长调节剂作为剂量敏感成分的功能。虽然非整倍体，即基因组元素剂量不平衡，与癌症有关，并导致唐氏综合症等几种遗传疾病，但很难研究其在人类中的分子基础。植物拟南芥提供了在模型真核生物中解剖剂量决定因素的机会。在这项研究中获得的知识可能有助于了解剂量相关疾病，并可能有助于其预防和治疗。

DESCRIPTION (provided by applicant): The difficulty of forming interploidy or interspecies hybrids of plants demonstrates the importance of matched parents in reproduction. "Unbalanced" parental contributions cause seed failure. Interestingly, balance is a genetic trait and not only a consequence of genome dosage, as certain diploids can be better matched with tetraploid species than with other diploid species. We hypothesize that regulation of chromatin and growth are dosage-sensitive processes that affect the success of plant hybridization. This hypothesis is supported by the following preliminary observations: Arabidopsis parents with identical genotypes produce dead or viable hybrid seeds depending on the parental genomic ratio. Seeds from interspecific crosses display dosage-dependent derepression of the heterochromatic repeat ATHILA, and of the imprinted, paternally- expressed, transcription factor PHE1. Decreased activity of PHE1 suppresses death in interspecific crosses. Using genetic variation in parental dosage potential, we have characterized the genetics of interploidy and interspecies hybridization finding that both are controlled by few QTL. Maternal sensitivity to interploidy crosses responds to the transcription regulator TTG2, which acts in maternal tissue to modulate endosperm growth. Decreased activity of TTG2 results in seed survival and is likely to explain an observed major effect QTL. Based on these results, we propose to: 1. Determine the molecular basis of QTL affecting interspecific and interploidy postzygotic incompatibility. 2. Investigate the transcriptional consequences of the fusion of mismatched gametes in both interspecific and interploidy matings. 3. Investigate the causes and consequences of ATHILA and PHERES1 misexpression and the developmental consequences of incompatibility. The proposed research will fill a lacuna in our understanding of factors governing postzygotic compatibility in plants and help address the function of chromatin and growth regulators as dosage sensitive components. Although aneuploidy, the unbalanced dosage of genomic elements, is associated with cancer and causes several genetic diseases such as Down Syndrome, it is difficult to study its molecular basis in humans. The plant Arabidopsis provides the opportunity to dissect dosage determinants in a model eukaryote. The knowledge gained in this study may help understand dosage-related diseases and possibly help in their prevention and treatment.