Mobile genetic elements (MGEs) account for a significant fraction of eukaryotic genomes and are implicated in altered gene expression and disease. We present an efficient computational protocol for MGE insertion site analysis. ELAN, the suite of tools described here uses standard techniques to identify different MGEs and their distribution on the genome. One component, DNASCANNER analyses known insertion sites of MGEs for the presence of signals that are based on a combination of local physical and chemical properties. ISF (insertion site finder) is a machine-learning tool that incorporates information derived from DNASCANNER. ISF permits classification of a given DNA sequence as a potential insertion site or not, using a support vector machine. We have studied the genomes of Homo sapiens, Mus musculus, Drosophila melanogaster and Entamoeba histolytica via a protocol whereby DNASCANNER is used to identify a common set of statistically important signals flanking the insertion sites in the various genomes. These are used in ISF for insertion site prediction, and the current accuracy of the tool is over 65%. We find similar signals at gene boundaries and splice sites. Together, these data are suggestive of a common insertion mechanism that operates in a variety of eukaryotes.
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http://dx.doi.org/10.1093/nar/gkr337 | DOI Listing |
Middle East J Dig Dis
October 2024
Department of Colorectal Surgery, Colorectal Research Center, Imam Khomeini Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran.
Background: Low anterior resection (LAR) is the gold standard for curative cancer treatment in the middle and upper rectum. In radically operated patients, the local recurrence rates with total mesorectal excision (TME) after 5 and 10 years was<10%, with 80% in 5 years survival. Anastomotic leakage (AL) affects 4%-20% of patients who underwent LAR.
View Article and Find Full Text PDFNeurol Genet
December 2024
From the The Institute of Clinical Medicine (K.Õ., T.R., E.Õ.-S., L.M., S. Pajusalu), Faculty of Medicine, University of Tartu; Genetics and Personalized Medicine Clinic (K.Õ., T.R., L.M., Sander Pajusalu); Children's Clinic (E.O.-S.); Pathology Department (S. Puusepp), Tartu University Hospital, Estonia; Folkhalsan Research Center (M.S., B.U.), Helsinki; and Tampere Neuromuscular Center (B.U.), Tampere, Finland.
Background And Objectives: Tibial muscular dystrophy (TMD) is an autosomal dominant, slowly progressive late-onset distal myopathy. TMD was first described in 1991 by Udd et al. in Finnish patients, who were later found to harbor a heterozygous unique 11-bp insertion/deletion in the last exon of the gene-the Finnish founder variant (FINmaj).
View Article and Find Full Text PDFSilylformates are emerging surrogates of hydrosilanes, able to reduce carbonyl groups in transfer hydrosilylation reactions, with the concomitant release of CO2. In this work, a new reactivity is revealed for silylformates, in the presence of imines. Using ruthenium catalysts, and lithium iodide as a co-catalyst, imines are shown to undergo hydrocarboxysilylation by formal insertion of CO2 to the N-Si bond of silyl amine to yield silyl carbamates in excellent yields.
View Article and Find Full Text PDFCRISPR J
January 2025
Guangdong Key Laboratory of Plant Epigenetics, College of Life Sciences and Oceanography, Shenzhen University, Shenzhen, China.
Flax is an important crop used for oil and fiber production. Although genetic engineering has been possible in flax, it is not commonly used to produce cultivars. However, the use of genome editing technology, which can produce site-specific mutations without introducing foreign genes, may be a valuable tool for creating elite cultivars that can be easily cultivated.
View Article and Find Full Text PDFJ Evol Biol
January 2025
ISTA (Institute of Science and Technology Austria), Am Campus 1, 3400 Klosterneuburg, Austria.
Polymorphic short insertions and deletions (INDELs ≤ 50 bp) are abundant, although less common than single nucleotide polymorphisms (SNPs). Evidence from model organisms shows INDELs to be more strongly influenced by purifying selection than SNPs. Partly for this reason, INDELs are rarely used as markers for demographic processes or to detect divergent selection.
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