SummaryThe increasing ecological and economical importance of Populus species and hybrids has stimulated research into the investigation of the natural variation of the species and the estimation of the extent of genetic control over its wood quality traits for traditional forestry activities as well as the emerging bioenergy sector. A realized kinship matrix based on informative, high-density, biallelic single nucleotide polymorphism (SNP) genetic markers was constructed to estimate trait variance components, heritabilities, and genetic and phenotypic correlations.Seventeen traits related to wood chemistry and ultrastructure were examined in 334 9-yr-old Populus trichocarpa grown in a common-garden plot representing populations spanning the latitudinal range 44°to 58.6°. In these individuals, 9342 SNPs that conformed to HardyWeinberg expectations were employed to assess the genomic pair-wise kinship to estimate narrow-sense heritabilities and genetic correlations among traits.The range-wide phenotypic variation in all traits was substantial and several trait heritabilities were > 0.6. In total, 61 significant genetic and phenotypic correlations and a network of highly interrelated traits were identified.The high trait variation, the evidence for moderate to high heritabilities and the identification of advantageous trait combinations of industrially important characteristics should aid in providing the foundation for the enhancement of poplar tree breeding strategies for modern industrial use.

The impact of female reproductive success on the mating system, gene flow, and genetic diversity of the filial generation was studied using a random sample of 801 bulk seed from a 49-clone Pseudotsuga menziesii seed orchard. We used microsatellite DNA fingerprinting and pedigree reconstruction to assign each seed's maternal and paternal parents and directly estimated clonal reproductive success, selfing rate, and the proportion of seed sired by outside pollen sources. Unlike most family array mating system and gene flow studies conducted on natural and experimental populations, which used an equal number of seeds per maternal genotype and thus generating unbiased inferences only on male reproductive success, the random sample we used was a representative of the entire seed crop; therefore, provided a unique opportunity to draw unbiased inferences on both female and male reproductive success variation. Selfing rate and the number of seed sired by outside pollen sources were found to be a function of female fertility variation. This variation also substantially and negatively affected female effective population size. Additionally, the results provided convincing evidence that the use of clone size as a proxy to fertility is questionable and requires further consideration.

Seed orchards main function is delivering breeding programs’ gains in the form of genetically improved seedlings. They are unique experimental populations, perfectly suited for studying various pollination environments (natural or otherwise), affecting their mating system parameters. Here, under different pollination environment (natural and intrusive (pollen augmentation and/or bloom-delay)), the mating system of a second generation, wind-pollinated, coastal Douglas-fir (Pseudotsuga menziesii var. menziesii (Mirb.) Franco) seed orchard was evaluated over four years. Using DNA microsatellite markers and bulk seed samples, we conducted pedigree reconstruction to assign each seed’s male and female parents, followed by determining the extent of pollen contamination (external gene flow), selfing rate, and, parental gametic contribution for each year. Overall, external pollen contamination rates ranged between 10 and 28%, selfing rate varied between 12 and 17%, and 80% of the seed crops were produced by 37–64% of the orchard’s parents. Pollination environment and seed crop size substantially influenced the observed results, particularly for small crops as pollen contamination was high in natural (28%) vs. intrusive pollination (10%). Generally, irrespective of the crop size, seed produced under natural pollination had higher pollen contamination, confirming the role of pollination environment manipulation in improving seed crops’ genetic quality.

Seed orchards’ parental reproductive success is often assessed through surveys of seed- and pollen-cone production (reproductive investment). Although the reliability of this approach has been questioned, its speed and ease made it the method of choice for providing approximate estimates for the genetic quality and quantity of seed orchard crops. In this study, reproductive investment data from various female and male phenotypic assessment methods from three seed orchards (lodgepole pine ( Pinus contorta Dougl. ex. Loud. var. latifolia Engelm.), Douglas-fir ( Pseudotsuga menziesii (Mirb.) Franco), and western larch ( Larix occidentalis Nutt.)) were compared with reproductive success estimates based on DNA fingerprinting and parentage analyses. The use of reproductive investment as a proxy to reproductive success on estimating seed crop’s volume genetic worth and diversity (measured by effective number of parents) was evaluated. Regression analyses indicated that the phenotypic assessment methods reflect the true parental reproductive success and that estimates of seed- and pollen-cone volume production appear to be the most appropriate indicators of female and male reproductive success, respectively. Although the best combination of female–male survey methods produced inflated effective number of parents estimates, the genetic worth estimates were similar to those based on DNA, highlighting their robustness to fertility variation assessment.

Abstract• Pollination dynamics was studied in a Douglas-fir (Pseudotsuga menziesii (Mirb.) Franco) seed orchard using 8 nuclear microsatellite markers and pedigree reconstruction.• The seed orchard consisted of 49 parents (clones). Cone-crop management included bloom delay and supplemental mass pollination (SMP) using 12 internal and 4 external pollen donors.• A random sample of 801 bulk seeds was genotyped for both haploid megagametophyte and corresponding diploid embryo.• Using the parental population's multilocus genotypes, full pedigree reconstruction generated all the information needed to estimate the maternal, paternal, and parental reproductive success, selfing, pollen contamination, and pollination success of the 4 external pollen donors.• Maternal, paternal, and parental reproductive success varied with 80% of gametes being produced by 23, 45, and 37% of the orchard's parents, respectively, resulting in a drastically reduced effective population size as compared to the census number (14 vs. 53).• Selfing, pollen contamination, and aggregate SMP success (internal and external) were estimated to be 15.2, 10.4, and 15.0%, respectively.• Full pedigree reconstruction was effective in unraveling the orchard's pollination dynamics and both female and male reproductive success.

1AbstractTranscriptome-Wide Association Studies discover SNP effects mediated by gene expression through a two-stage process: a typically small reference panel is used to infer SNP-expression effects, and then these are applied to discover associations between imputed expression and phenotypes. We investigate whether the accuracy of SNP-expression and expression-phenotype associations can be increased by performing inference on both the reference panel and independent GWAS cohorts simultaneously. We develop EMBER (Estimation of Mediated Binary Effects in Regression) to re-estimate these effects using a liability threshold model with an adjustment to variance components accounting for imputed expression from GWAS data. In simulated data with only gene-mediated effects, EMBER more than doubles the performance of SNP-expression linear regression, increasing mean r2 from 0.3 to 0.65 with a gene-mediated variance explained of 0.01. EMBER also improves estimation accuracy when the fraction of cis-SNP variance mediated by genes is as low as 30%. We apply EMBER to genotype and gene expression data in schizophrenia by combining 512 samples from the CommonMind Consortium and 56,081 samples from the Psychiatric Genomic Consortium. We evaluate performance of EMBER in 36 genes suggested by TWAS by concordance of inferred effects with effects reported independently for frontal cortex expression. Applying the EMBER framework to a baseline linear regression model increases performance in 26 out of 36 genes (sign test p-value .0020) with an increase in mean r2 from 0.200 to 0.235.