Wild tomato species, like Solanum chilense, are important germplasm resources for enhanced biotic and abiotic stress resistance in tomato breeding. S. chilense also serves as a model to study adaptation of plants to drought and the evolution of seed banks. The absence of a well-annotated reference genome in this compulsory outcrossing, very diverse species limits in-depth studies on the genes involved. We generated ~134 Gb of DNA and 157 Gb of RNA sequence data for S. chilense, which yielded a draft...
02:21
In eukaryotes, Polycomb group (PcG) and trithorax group (trxG) factors oppositely regulate gene transcription during development through histone modifications, with PcG factors repressing and trxG factors activating the expression of their target genes. Although plant trxG factors regulate many developmental and physiological processes, their downstream targets are poorly characterized. Here we use transcriptomics to identify genome-wide targets of the Arabidopsis thaliana trxG factor ULTRAPETALA1...
02:21
Genome-wide association studies (GWAS) have gained central importance for the identification of candidate loci underlying complex traits. Single nucleotide polymorphism (SNP) markers are mostly used as genetic variants for the analysis of genotype-phenotype associations in populations, but closely linked SNPs that are grouped into haplotypes are also exploited. The benefit of haplotype-based GWAS approaches versus SNP-based approaches is still under debate because SNPs in high linkage disequilibrium...
02:21
ABSTRACT Germline mutations (eg, BRCA1/2) have prognostic and treatment implications for ovarian cancer (OVCA) patients. Thus, national guidelines recommend genetic testing for OVCA patients. The present study examines patterns and predictors of genetics referral in OVCA patients. Electronic medical record data were abstracted retrospectively from 557 OVCA patients treated from January 1, 2001, to December 31, 2015. Logistic regression models identified sociodemographic characteristics,...
Thu Oct 10, 2019 14:37
ABSTRACT Autosomal dominant progressive external ophthalmoplegia (adPEO) is a late‐onset, Mendelian mitochondrial disorder characterised by paresis of the extraocular muscles, ptosis and skeletal‐muscle restricted multiple mitochondrial DNA (mtDNA) deletions. While dominantly‐inherited, pathogenic variants in POLG, TWNK and RRM2B are among the most common genetic defects of adPEO, identification of novel candidate genes and the underlying pathomechanisms remain challenging. We report the...
Thu Oct 10, 2019 14:35
Abstract Vascular Ehlers‐Danlos syndrome (vEDS) is a rare inherited connective tissue disorder due to heterozygous pathogenic COL3A1 variants. Arterial, intestinal, and/or uterine fragility is the disease hallmark and results in reduced life expectancy. The clinical diagnosis is not always straightforward and patients' selection for molecular confirmation depends on the characteristics of applied criteria, that is, the Villefranche criteria (in use until 2017) and their revision according...
Thu Oct 10, 2019 14:33
Left panel (A): clustered AYGRPS‐causing MAF changes within the transactivation domain (TAD): C‐terminal DNA binding domain, “extended homology” (EHR), “basic motif” (BR), and leucine‐zipper (LZ) regions are shown. Left panel (B): amino acid alignments of the GSK3 motif among MAF orthologues. The priming Ser70 and four tandemly arranged phosphorylatable serine/threonine residues (Ser66, Thr62, Thr58, and Ser54) within GSK3 recognition region are displayed in black, while affected residues identified...
Thu Oct 10, 2019 14:27
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