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mutation (point or larger change) that results from changes within the structure of a gene.
The two copies of a particular gene present in a diploid cell (one in each chromosome set).
All of the alleles available among the reproductive members of a population from which gametes can be drawn.
control of gene expression through a complex myriad of regulatory genes and regulatory Proteins.
Gene splicing refers to the post-transcriptional processes leading to the removal (i.e., introns) and inclusion (i.e., exons) of sequences in the pre-mRNA, which ultimately shape the final protein-coding mRNA. Splicing reactions are controlled by the spliceosome, a large nuclear ribonucleoprotein complex (RNP) that catalyzes the removal of intron sequences from the pre-mRNA. Alternative splicing gives rise to protein variants or isoforms beyond the wild type protein and is, therefore, a source of diversity. Although alternative splicing may occur through different mechanisms, exon skipping is the most frequent in eukaryotic cells. Mis-splicing is implicated in various disease states such as cancer, neurodegeneration, and muscular dystrophies. Gene splicing also refers to molecular cloning techniques used in generating recombinant DNA constructs. For example, the coding regions of a gene may be pieced together into a vector (e.g., plasmid) for delivery into cells of choice (e.g., CHO cells) to drive protein expression.
Incorporation of new DNA into and organism's Cells, usually by a vector such as a modified virus. Used in gene therapy.
The movement of a gene fragment from one chromosomal location to another, which often alters or abolishes expression.
a gene that is essentially the same as another, but has mutational differences.
An approach that randomly disrupts genes throughout the genome by inserting a DNA element (usually containing a reporter). These DNA elements are sometimes fused in frame of the endogenous gene so that the reporter will be expressed in a similar pattern as the endogenous gene. The disruption usually mutates the endogenous gene."Although enhancer traps are widely used, certain gene traps were developed as an alteRNAtive to enhancer traps to capture open reading frame information. The identification of target genes using enhancer trapping was sometimes problematic because the site of reporter insertion could be as much as 100 kb from the target gene. This would require extensive characterization of the genomic insertion site to identify candidate target genes. gene trapping varies from enhancer trapping in that, instead of using a minimal promoter, gene trap vectors provide specific sequences that generate fusion RNA transcripts when inserted into a gene (See Fig. 1). This feature makes gene trapping (vs. enhancer trapping) especially advantageous in mammalian Cells that have complex genomic organization, including large Introns and small Exons, because the trapped gene can be identified by mRNA sequence. " From: [Durick K, et al. “Hunting with traps” genome research 9(11): 1019-1025. Nov. 1999] - nice review article.
A seizure that involves the entire brain. Generalized seizures are caused by electrical discharges originating from both hemispheres of the brain.
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