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Genetic screens are used to identify genes involved in specific biological processes. An EMS mutagenesis screen in identified growth control phenotypes in the developing eye. One mutant line from this screen, , was phenotypically characterized using the FLP/FRT system and genetically mapped by complementation analysis and genomic sequencing by undergraduate students participating in the multi-institution Fly-CURE consortium. was found to have a nonsense mutation in (), anortholog of the mammalian spectraplakin (). and are involved in cytoskeletal organization and play roles during cell growth and proliferation.
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http://dx.doi.org/10.17912/micropub.biology.000418 | DOI Listing |
Clin Genet
September 2025
Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
LONP1 encodes a mitochondrial protease essential for protein quality control and metabolism. Variants in LONP1 are associated with a diverse and expanding spectrum of disorders, including Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies syndrome (CODAS), congenital diaphragmatic hernia (CDH), and neurodevelopmental disorders (NDD), with some individuals exhibiting features of mitochondrial encephalopathy. We report 16 novel LONP1 variants identified in 16 individuals (11 with NDD, 5 with CDH), further expanding the clinical spectrum.
View Article and Find Full Text PDFJ Assist Reprod Genet
September 2025
UFR-SVS, UVSQ, 78180, Montigny Le Bretonneux, France.
Introduction: Complex chromosomal rearrangements (CCRs) are frequently associated with infertility and have been described in the literature. Chromoanagenesis corresponds to a group of CCRs with a high number of chromosome breakpoints. These CCRs involving small structural variations can only be identified by using high-resolution genomic techniques.
View Article and Find Full Text PDFNature
September 2025
Helmholtz Institute for RNA-based Infection Research (HIRI), Helmholtz Centre for Infection Research (HZI), Würzburg, Germany.
Bacteriophages are the most abundant entities on earth and exhibit vast genetic and phenotypic diversity. Exploitation of this largely unexplored molecular space requires identification and functional characterization of genes that act at the phage-host interface. So far, this has been restricted to few model phage-host systems that are amenable to genetic manipulation.
View Article and Find Full Text PDFGenome Res
September 2025
College of Life Science, Sichuan Agricultural University, Ya'an, 625014, People's Republic of China;
Poultry egg production is shaped by the intertwined action of multiple physiological systems, greatly magnifying the complexity of its underlying genetic regulation. Although multitissue mapping of regulatory variants offers a powerful route to untangle this complexity, comprehensive data sets in ducks remain scarce. Meanwhile, the contributions of peripheral systems beyond neuroendocrine regulation on poultry egg production are still largely unexplored.
View Article and Find Full Text PDFPLoS One
September 2025
HUN-REN Centre for Ecological Research, Institute of Evolution, Budapest, Hungary.
We develop a model that integrates evolutionary matrix game theory with Mendelian genetics. Within this framework, we define the genotype dynamics that describes how the frequencies of genotypes change in sexual diploid populations. We show that our formal definition of evolutionary stability for genotype distributions implies the stability of the corresponding interior equilibrium point in the genotype dynamics.
View Article and Find Full Text PDF