The distinction between malignant mesothelioma and reactive mesothelial proliferation can be challenging both on histology and cytology. Recently, variants of the BRCA1-associated protein 1 (BAP1) gene resulting in nuclear protein loss were reported in hereditary and sporadic mesothelioma. Using immunohistochemistry, we evaluated the utility of BAP1 expression in the differential diagnosis between mesothelioma and other mesothelial proliferations on a large series of biopsies that included 212 mesotheliomas, 12 benign mesothelial tumors, and 42 reactive mesothelial proliferations. BAP1 stain was also performed in 70 cytological samples (45 mesotheliomas and 25 reactive mesothelial proliferations). BAP1 was expressed in all benign mesothelial tumors, whereas 139/212 (66%) mesotheliomas were BAP1 negative, especially in epithelioid/biphasic compared with sarcomatoid/desmoplastic subtypes (69% vs 15%). BAP1 loss was homogeneous in neoplastic cells except for two epithelioid mesotheliomas showing tumor heterogeneity. By fluorescence in situ hybridization, BAP1 protein loss was paralleled by homozygous deletion of the BAP1 locus in the vast majority of BAP1-negative tumors (31/41, 76%), whereas 9/10 BAP1-positive mesotheliomas were normal. In biopsies interpreted as reactive mesothelial proliferation BAP1 loss was 100% predictive of malignancy, as all 6 cases subsequently developed BAP1-negative mesothelioma, whereas only 3/36 (8%) BAP1-positive cases progressed to mesothelioma. On cytology/cell blocks, benign mesothelial cells were invariably positive for BAP1, whereas 64% of mesotheliomas showed loss of protein; all 6 cases showing BAP1 negativity were associated with histological diagnosis of BAP1-negative mesothelioma. BAP1 stain also showed utility in the differential of mesothelioma from most common pleural and peritoneal mimickers, such as lung and ovary carcinomas, with specificity and sensitivity of 99/70% and 100/70%, respectively. Our results show that BAP1 protein is frequently lost in mesothelioma, especially of epithelioid/biphasic subtype and is commonly associated with homozygous BAP1 deletion. BAP1 immunostain represents an excellent biomarker with an unprecedented specificity (100%) in the distinction between benign and malignant mesothelial proliferations. Finding BAP1 loss in mesothelial cells should prompt to immediately reevaluate the patient; moreover, it might be useful in mapping tumor extent and planning surgical resection.

Near-isogenic hybrids (NIHs), developed from crossing maize (Zea mays L.) backcross-derived lines (BDLs) differing for the parental alleles at a major QTL for leaf ABA concentration (L-ABA), were field-tested for 2 years under well-watered and water-stressed conditions. Differences among NIHs for L-ABA and other morpho-physiological traits were not affected by water regimes. On average, the QTL allele for high L-ABA markedly reduced stomatal conductance and root lodging. To elucidate the effects of the QTL on root architecture and L-ABA, root traits of two pairs of BDLs were measured in plants grown in soil columns at three water regimes. Differences among BDLs were not affected by water regimes. Across water regimes, the QTL confirmed its effect on L-ABA and showed a concurrent effect on root angle, branching, number, diameter, and dry weight. Based on these results, it is concluded that the QTL affects root lodging through a constitutive effect on root architecture. In addition, there is speculation that the QTL effects on root traits and L-ABA are probably due to pleiotropy rather than linkage and a model is proposed in which the QTL has a direct effect on root architecture, while indirectly affecting L-ABA.

We describe the application of complexity reduction of polymorphic sequences (CRoPS(®)) technology for the discovery of SNP markers in tetraploid durum wheat (Triticum durum Desf.). A next-generation sequencing experiment was carried out on reduced representation libraries obtained from four durum cultivars. SNP validation and minor allele frequency (MAF) estimate were carried out on a panel of 12 cultivars, and the feasibility of genotyping these SNPs in segregating populations was tested using the Illumina Golden Gate (GG) technology. A total of 2,659 SNPs were identified on 1,206 consensus sequences. Among the 768 SNPs that were chosen irrespective of their genomic repetitiveness level and assayed on the Illumina BeadExpress genotyping system, 275 (35.8%) SNPs matched the expected genotypes observed in the SNP discovery phase. MAF data indicated that the overall SNP informativeness was high: a total of 196 (71.3%) SNPs had MAF >0.2, of which 76 (27.6%) showed MAF >0.4. Of these SNPs, 157 were mapped in one of two mapping populations (Meridiano × Claudio and Colosseo × Lloyd) and integrated into a common genetic map. Despite the relatively low genotyping efficiency of the GG assay, the validated CRoPS-derived SNPs showed valuable features for genomics and breeding applications such as a uniform distribution across the wheat genome, a prevailing single-locus codominant nature and a high polymorphism. Here, we report a new set of 275 highly robust genome-wide Triticum SNPs that are readily available for breeding purposes.

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A major QTL affecting root traits and leaf ABA concentration was identified in maize (Zea mays L.) and named root-ABA1. For this QTL, back-cross-derived lines (BDLs) homozygous either for the (+) or for the (-) allele increasing or decreasing, respectively, root size and leaf ABA concentration, were developed. This study was conducted to evaluate the QTL effects in various genetic backgrounds and at different water regimes. The (+/+) and (-/-) BDLs were crossed with five or 13 inbred tester lines of different origin, thus producing two sets of test-crosses that were evaluated in Italy and China, respectively. Testing was conducted under both well-watered and water-stressed conditions. In Italy, the test-crosses derived from (+/+) BDLs, as compared with those derived from (-/-) BDLs, showed, across both water regimes, higher leaf ABA concentration (on average 384 versus 351 ng g(-1) DW) and lower root lodging (28.0 versus 52.5%), and lower grain yield under water-stressed conditions (4.88 versus 6.27 Mg ha(-1)). In China, where root lodging did not occur, the test-crosses derived from (+/+) BDLs were less productive at both water regimes (on average, 6.83 versus 7.49 Mg ha(-1)). The lower grain yield of the test-crosses derived from (+/+) BDLs was due to a lower number of ears per plant and to lower kernel weight. The results indicate that the (+) root-ABA1 allele confers not only a consistently lower susceptibility to root lodging but also a lower grain yield, especially when root lodging does not occur.

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