Genomic insertion
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Next-generation sequencing has allowed for the identification of different genetic variations, which are known to contribute to diseases. Of these, insertions and deletions are the second most abundant type of variations in the genome, but their biological importance or disease association is not well-studied, especially for deletions of intermediate sizes.
15p vibransone 28-03-2024 3 2 Download
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Massively parallel DNA sequencing, such as exome sequencing, has become a routine clinical procedure to identify pathogenic variants responsible for a patient’s phenotype. Exome sequencing has the capability of reliably identifying inherited and de novo single-nucleotide variants, small insertions, and deletions.
11p vioraclene 31-03-2024 3 1 Download
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Ebook "Site-directed insertion of transgenes" aims to present the state of this field from basic mechanisms of site-directed modifications to their applications in a wide range of organisms such as bacteria, yeast, plants, insects, mammals. It will discuss the problems encountered when using the random integration strategy and present the recent advances made in targeted genome modification.
393p nhanphanguyet 28-01-2024 3 2 Download
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Part 1 book "PCR Protocols" includes content: Long range PCR with a DNA polymerase fusion, isolation of genomic insertion sites of proviruses using splinkerette PCR based procedures, lariat dependent nested PCR for flanking sequence determination, a global single-Cell cDNA amplification method for quantitative microarray analysis,...and other contents.
171p oursky06 17-10-2023 5 1 Download
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Part 1 of ebook "Thermophiles and thermozymes" provides readers with content including: editorial for the special issue - thermophiles and thermozymes; into the thermus mobilome - presence, diversity and recent activities of insertion sequences across thermus spp.; genome analysis of vallitalea guaymasensis strain L81 isolated from a deep-sea hydrothermal vent system; molecular tunnels in enzymes and thermophily - a case study on the relationship to growth temperature;...
95p lytamnguyet 04-08-2023 8 3 Download
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Neuregulin 3 (NRG3) plays a key role in central nervous system development and is a strong candidate for human mental disorders. Thus, genetic variation in NRG3 may have some impact on a variety of phenotypes in non-mammalian vertebrates. Recently, genome-wide screening for short insertions and deletions in chicken (Gallus gallus) genomes has provided useful information about structural variation in functionally important genes.
10p vinarcissa 21-03-2023 7 1 Download
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Copy number variation was found to be a frequent type of DNA polymorphism in the human genome often associated with diseases but its importance in crops and the effects on agronomic traits are still largely unknown.
8p vinarcissa 21-03-2023 3 1 Download
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In mammals, an important source of genomic variation is insertion polymorphism of retrotransposons. These may acquire a functional role when inserted inside genes or in their proximity. The aim of this work was to carry out a genome wide analysis of ERE1 retrotransposons in the horse and to analyze insertion polymorphism in relation to evolution and function.
16p vinarcissa 21-03-2023 4 1 Download
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Canine progressive retinal atrophies are a group of hereditary retinal degenerations in dogs characterised by depletion of photoreceptor cells in the retina, which ultimately leads to blindness.
17p vihagrid 30-01-2023 11 4 Download
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Many applications of CRISPR/Cas9-mediated genome editing require Cas9-induced non-homologous end joining (NHEJ), which was thought to be error prone. However, with directly ligatable ends, Cas9-induced DNA double strand breaks may be repaired preferentially by accurate NHEJ.
20p vigalileogalilei 27-02-2022 10 1 Download
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The three-dimensional (3D) organization of chromosomes is linked to epigenetic regulation and transcriptional activity. However, only few functional features of 3D chromatin architecture have been described to date.
15p vigalileogalilei 27-02-2022 13 1 Download
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Genomic imprinting is an epigenetic phenomenon that allows a subset of genes to be expressed mono-allelically based on the parent of origin and is typically regulated by differential DNA methylation inherited from gametes.
17p vielonmusk 30-01-2022 7 1 Download
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Hemophilia A, a bleeding disorder resulting from F8 mutations, can only be cured by gene therapy. A promising strategy is CRISPR-Cas9-mediated precise insertion of F8 in hepatocytes at highly expressed gene loci, such as albumin (Alb). Unfortunately, the precise in vivo integration efficiency of a long insert is very low (~ 0.1%).
17p vielonmusk 30-01-2022 9 0 Download
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Conditional knockout mice and transgenic mice expressing recombinases, reporters, and inducible transcriptional activators are key for many genetic studies and comprise over 90% of mouse models created. Conditional knockout mice are generated using labor-intensive methods of homologous recombination in embryonic stem cells and are available for only ~25% of all mouse genes.
15p vialfrednobel 29-01-2022 14 0 Download
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The genome-wide investigation of DNA methylation levels has been limited to reference transposable element positions. The methylation analysis of non-reference and mobile transposable elements has only recently been performed, but required both genome resequencing and MethylC-seq datasets.
10p vialfrednobel 29-01-2022 11 0 Download
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CRISPR is widely used to disrupt gene function by inducing small insertions and deletions. Here, we show that some single-guide RNAs (sgRNAs) can induce exon skipping or large genomic deletions that delete exons. For example, CRISPR-mediated editing of β-catenin exon 3, which encodes an autoinhibitory domain, induces partial skipping of the in-frame exon and nuclear accumulation of β-catenin.
8p vialfrednobel 29-01-2022 9 0 Download
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A new study finds that splicing disruption is a frequent consequence of mutations generated by CRISPR/Cas9 gene-editing technology, and alleles designed to be null can express aberrant proteins. This new information allows enhanced quality control procedures to select the best mutant alleles generated by CRISPR/Cas9.
4p vialfrednobel 29-01-2022 14 0 Download
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Transposable elements (TEs) are notable drivers of genetic innovation. Over evolutionary time, TE insertions can supply new promoter, enhancer, and insulator elements to protein-coding genes and establish novel, species-specific gene regulatory networks.
17p viaristotle 29-01-2022 8 0 Download
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Short interspersed elements (SINEs) represent the most abundant group of non-long-terminal repeat transposable elements in mammalian genomes. In primates, Alu elements are the most prominent and homogenous representatives of SINEs. Due to their frequent insertion within or close to coding regions, SINEs have been suggested to play a crucial role during genome evolution.
16p viaristotle 29-01-2022 31 0 Download
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There is no effective way to detect structure variations (SVs) and extra-chromosomal circular DNAs (ecDNAs) at single-cell whole-genome level. Here, we develop a novel third-generation sequencing platform-based single-cell whole-genome sequencing (scWGS) method named SMOOTH-seq (single-molecule real-time sequencing of long fragments amplified through transposon insertion).
19p viarchimedes 26-01-2022 14 0 Download