Mapping-by-sequencing has become a standard method to map and identify phenotype-causing mutations in model species. Here, we show that a fragmented draft assembly is sufficient to perform mapping-by-sequencing in nonmodel species. We generated a draft assembly and annotation of the genome of the free-living nematode , a distant relative of the model We used this draft to identify the likely causative mutations at the -3 locus, which affect vulval development. The locus encodes the ortholog of , and we further show that mutants also have an unsuspected vulval-development phenotype. In a virtuous circle, we were able to use the linkage information collected during mutant mapping to improve the genome assembly. These results showcase the promise of genome-enabled forward genetics in nonmodel species.
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http://dx.doi.org/10.1534/genetics.117.203521 | DOI Listing |
Acta Orthop
January 2025
Helsinki New Children's Hospital, Helsinki University Hospital, Helsinki, Finland.
Spondylolysis is defined as a defect or elongation in the pars interarticularis of the lumbar spine, either unilateral or bilateral. Growing children with bilateral spondylolysis may develop spondylolisthesis, i.e.
View Article and Find Full Text PDFA significant advancement in synthetic biology is the development of synthetic gene circuits with predictive Boolean logic. However, there is no universally accepted or applied statistical test to analyze the performance of these circuits. Many basic statistical tests fail to capture the predicted logic (OR, AND, etc.
View Article and Find Full Text PDFMach Learn Appl
June 2024
McGill University Department of Biostatistics, 805 rue Sherbrooke O, Montréal, H3A 0B9, Quebec, Canada.
In the context of survival analysis, data-driven neural network-based methods have been developed to model complex covariate effects. While these methods may provide better predictive performance than regression-based approaches, not all can model time-varying interactions and complex baseline hazards. To address this, we propose Case-Base Neural Networks (CBNNs) as a new approach that combines the case-base sampling framework with flexible neural network architectures.
View Article and Find Full Text PDFMicrob Cell Fact
January 2025
Department of Genetics and Biotechnology, Ivan Franko National University of Lviv, Hrushevskoho st. 4, Rm. 102, Lviv, 79005, Ukraine.
Background: Streptomyces roseochromogenes NRRL 3504 produces clorobiocin, an aminocoumarin antibiotic that inhibits DNA replication. No other natural products have been isolated from this bacterium so far, despite the presence of a rich repertoire of specialized metabolite biosynthesis gene clusters (smBGCs) within its genome. Heterologous expression of smBGCs in suitable chassis speeds up the discovery of the natural products hidden behind these sets of genes.
View Article and Find Full Text PDFInt J Mol Sci
January 2025
Department of Experimental Medicine, Tor Vergata University of Rome, 00133 Rome, Italy.
MicroRNA (miR)-126 is frequently downregulated in malignancies, including breast cancer (BC). Despite its tumor-suppressive role, the mechanisms underlying miR-126 deregulation in BC remain elusive. Through silencing experiments, we identified Early B Cell Factor 1 (EBF1), ETS Proto-Oncogene 2 (ETS2), and Krüppel-Like Factor 2 (KLF2) as pivotal regulators of miR-126 expression.
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