Project description:We developed a reliable CNV detection method for species lacking contiguous reference genome. We selected multiple probes within 14,078 gene sequences and developed comparative genome hybridization on arrays. Gene CNVs were assessed in three full-sib families from species with 20 Gb genomes, i.e. white and black spruce, and interior spruce - a natural hybrid. Results: We discovered hundreds of gene CNVs in each species, 3612 in total, which were enriched in functions related to stress and defense responses and narrow expression profiles, indicating a potential role in adaptation. The number of shared CNVs was in accordance with the degree of relatedness between individuals and species. The genetically mapped subset of these genes showed a wide distribution across the genome, implying numerous structural variations. The hybrid family presented significantly fewer CNVs, suggesting that the admixture of two species within one genome reduces the occurrence of CNVs.
Project description:Following previous work, we extend the use of a reliable detection method to a wide progeny in white spruce in order to genetically map a maximum of inherited gene CNVs and linked those to phenotypic traits related to adaptation. We selected probes targeting 3911 genes likely in CNV in this progeny and performed genetic mapping for those harboring a 1:1 segregation. In addition, the link between gene CNVs and phenotypic variation was tested using budburst, budset and growth data for the same samples. Results: We genetically mapped 82 gene CNVs inherited from the previous generation and harboring the expected segregation ratio. This mapping allowed to delineate a few hotspots of CNV that are likely shared with other conifer species. In addition, individual-specific gene CNVs likely representing de novo variation supported the hypothesis of a purifying selection against copy losses. Finally, 29 gene CNVs were significantly associated to adaptive trait variation; 13 were located on the genetic map, including 4 located within hotspots of CNVs.
Project description:In past studies the hypothesis of "self-toxicity of natural regeneration barriers of Spruce tianshan" were proposed, and verified that 3, 4-dihydroxyacetophenone (DHAP) contained in litter of Spruce Tianshan was the direct cause of population regeneration barriers.The molecular basis of DHAP-induced autotoxicity was explored through transcriptomic analysis of young roots of spruce tianshan treated with DHAP (3,4 dihydroxyacetophenone).
Project description:White pine weevil is a major pest of conifers in North America, especially for Spruce trees. Constitutive defenses are important in understanding defense mechanisms because they constitute the initial barrier to attacks by weevils and other pests. Resistant and susceptible trees exhibit constitutive differences in spruce. To improve our knowledge of their genetic basis, we compared the constitutive expression levels of 17,825 genes between 20 resistant and 20 susceptible trees in interior spruce (Picea glauca).
Project description:The 16p11.2 is the most common copy number variant (CNV) associated with Autism Spectrum Disorder (ASD). We used patient-derived cerebral organoids to investigate neurodevelopmental pathways dysregulated by dosage changes of 16p11.2 CNV. To investigate molecular dysregulation in DEL and DUP organoids, we carried out RNA sequencing and Tandem Mass Tag mass spectrometry (TMT-MS) on 1-month and 3-month organoids from the same samples. In proteomic analyses, we quantified a total of 6126 proteins in 1-month and 5481 proteins in 3-month organoids, with 13 and 11 proteins from within 16p11.2 CNV, respectively. Transcriptomic and proteomic profiling of organoids identifies the key drivers of functional effect by 16p11.2 CNV during neocortical development.