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Filename: controllers/Detail.php
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Filename: models/Detail_model.php
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Function: insertAPISummary
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Filename: helpers/my_audit_helper.php
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Filename: controllers/Detail.php
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Many eukaryotic species contain two separate molecular machineries for removing non-coding intron sequences from pre-mRNA molecules. The majority of introns (more than 99.5% in humans) are recognized and excised by the major spliceosome, which utilizes relatively poorly conserved sequence elements at the 5' and 3' ends of the intron that are used for intron recognition and in subsequent catalysis. In contrast, the minor spliceosome targets a rare group of introns (approximately 0.5% in humans) with highly conserved sequences at the 5' and 3' ends of the intron. Minor introns coexist in the same genes with major introns and while the two intron types are spliced by separate spliceosomes, the two splicing machineries can interact with one another to shape mRNA processing events in genes containing minor introns. Here, we review known cooperative and competitive interactions between the two spliceosomes and discuss the mechanistic basis of the spliceosome crosstalk, its regulatory significance, and impact on spliceosome diseases.
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http://dx.doi.org/10.3389/fgene.2021.700744 | DOI Listing |
The orthopedia homeobox (OTP) gene encodes a homeodomain-containing transcription factor involved in brain development. OTP is mapped to human chromosome 5q14.1.
View Article and Find Full Text PDFGenome Biol
September 2024
Department of Computer Science, Johns Hopkins University, Baltimore, MD, 21218, USA.
The process of splicing messenger RNA to remove introns plays a central role in creating genes and gene variants. We describe Splam, a novel method for predicting splice junctions in DNA using deep residual convolutional neural networks. Unlike previous models, Splam looks at a 400-base-pair window flanking each splice site, reflecting the biological splicing process that relies primarily on signals within this window.
View Article and Find Full Text PDFG3 (Bethesda)
September 2024
Department of Biology, Lund University, 22362 Lund, Sweden.
Recombination plays a crucial role in evolution by generating novel haplotypes and disrupting linkage between genes, thereby enhancing the efficiency of selection. Here, we analyze the genomes of 12 great reed warblers (Acrocephalus arundinaceus) in a 3-generation pedigree to identify precise crossover positions along the chromosomes. We located more than 200 crossovers and found that these were highly concentrated toward the telomeric ends of the chromosomes.
View Article and Find Full Text PDFAm J Med Genet A
November 2024
Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA.
Although next-generation sequencing has enabled diagnoses for many patients with Mendelian disorders, the majority remain undiagnosed. Here, we present a sibling pair who were clinically diagnosed with Escobar syndrome, however targeted gene testing was negative. Exome sequencing (ES), and later genome sequencing (GS), revealed compound heterozygous TTN variants in both siblings, a maternally inherited frameshift variant [(NM_133378.
View Article and Find Full Text PDFPlant Physiol Biochem
August 2024
International Research Center for Marine Biosciences Conferred by Ministry of Science and Technology, Shanghai Ocean University, No. 999 Huchenghuan Road, Nanhui New City, Shanghai, 201306, China. Electronic address:
The enzyme phospholipase A (PLA) plays a crucial role in acyl remodeling of phospholipids via the Lands' cycle, and consequently alters fatty acid compositions in triacylglycerol (TAG). In this study, a full-length cDNA sequence coding Myrmecia incisa phospholipase A (MiPLA) was cloned using the technique of rapid amplification of cDNA ends. Comparison of the 1082-bp cDNA with its corresponding cloned DNA sequence revealed that MiPLA contained 3 introns.
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