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Complex group I introns represent hallmarks of hexacoral mitochondrial genomes (mtDNAs). These intron elements are expected to influence the gene organization and gene expression. We sequenced the mitochondrial genome and transcriptome of Zoanthus sansibariscus and Palythoa heliodiscus, two zoantharian species (colonial anemones) representing different families within the suborder Brachycnemina. The circular and approximately 21kb mtDNAs contained two group I introns, one in ND5 and another in COI. The ND5-717 intron harbored two conventional mitochondrial genes (ND1 and ND3) within its structure and revealed several conserved features compared to ND5-717 in sea anemones. The COI intron, however, was inserted at a unique location (after position 867), which was different from that in sea anemones (position 884) and stony corals (position 720). COI-867 contained a homing endonuclease gene (HEG) with remarkable features, including species-specific length variations and only one copy of the essential LAGLIDADG motif. Whereas transcriptome analysis indicated that all conventional mtDNA genes were expressed, HEG expression appeared significantly repressed. Finally, we identified absolutely conserved non-coding repeat motifs with antisense features and potential regulatory functions.
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http://dx.doi.org/10.1016/j.gene.2017.07.023 | DOI Listing |
Eye (Lond)
September 2025
Genetics Laboratory, Metropolitan South Clinical Laboratory, Bellvitge University Hospital, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Spain.
Background: Inherited retinal dystrophies (IRDs) are a genetically heterogeneous group of conditions, with approximately 40% of cases remaining unresolved after initial genetic testing. This study aimed to assess the impact of a personalised genomic approach integrating whole-exome sequencing (WES) reanalysis, whole-genome sequencing (WGS), customised gene panels and functional assays to improve diagnostic yield in unresolved cases.
Subjects/methods: We retrospectively reviewed a cohort of 597 individuals with IRDs, including 525 probands and 72 affected relatives.
Front Genet
August 2025
Medical School, Kunming University of Science and Technology, The First People's Hospital of Yunnan Province, Kunming, Yunnan, China.
Background: Stickler syndrome (STL) is a group of related connective tissue disorders characterized by heterogeneous clinical presentations with varying degrees of orofacial, ocular, skeletal, and auditory abnormalities. However, this condition is difficult to diagnose on the basis of clinical features because of phenotypic variability. Thus, expanding the variant spectrum of this disease will aid in achieving a firm definitive diagnosis of STL.
View Article and Find Full Text PDFBMC Plant Biol
September 2025
College of Coastal Agricultural Sciences, Guangdong Ocean University, Zhanjiang, 524088, Guangdong, PR China.
Background: The Aux/IAA protein is integral to the modulation of auxin signaling, which is essential for plant growth and development. However, systematic analysis on the Aux/IAA gene family in pineapple ( L.) remains unexplored.
View Article and Find Full Text PDFNucleic Acids Res
August 2025
Sorbonne Université, CNRS, Department of Computational, Quantitative and Synthetic Biology-CQSB, 75005 Paris, France.
Generative probabilistic models have shown promise in designing artificial RNA and protein sequences but often suffer from high rates of false positives, where sequences predicted as functional fail experimental validation. To address this critical limitation, we explore the impact of reintegrating experimental feedback into the model design process. We propose a likelihood-based reintegration scheme, which we test through extensive computational experiments on both RNA and protein datasets, as well as through wet-lab experiments on the self-splicing ribozyme from the Group I intron RNA family where our approach demonstrates particular efficacy.
View Article and Find Full Text PDFFront Plant Sci
August 2025
Center for Agricultural Genetic Resources Research, Shanxi Agricultural University, Taiyuan, Shanxi, China.
Background: The Brassinazole-resistant (BZR) family of transcription factors acts as key regulators in brassinosteroid (BR) signaling, influencing plant growth, development, biotic and abiotic stresses. However, systematic analysis of the genes in oat has not been conducted. Moreover, little is known about their functions in osmotic stress, which is a major abiotic stress affecting oat production.
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