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A splice site mutation is a genetic mutation that inserts, deletes or changes a number of nucleotides in the specific site at which splicing takes place during the processing of precursor messenger RNA into mature messenger RNA. Splice site consensus sequences that drive exon recognition are located at the very termini of introns. [1]
The human genome is a complete set of nucleic acid sequences for humans, encoded as the DNA within each of the 23 distinct chromosomes in the cell nucleus. A small DNA molecule is found within individual mitochondria.
Gene conversion is the process by which one DNA sequence replaces a homologous sequence such that the sequences become identical after the conversion. [1] Gene conversion can be either allelic, meaning that one allele of the same gene replaces another allele, or ectopic, meaning that one paralogous DNA sequence converts another.
The process of gene expression itself is a source of endogenous DNA damages resulting from the susceptibility of single-stranded DNA to damage. [8] Other sources of DNA damage are conflicts of the primary transcription machinery with the DNA replication machinery, and the activity of certain enzymes such as topoisomerases and base excision ...
Genetic engineering, also called genetic modification or genetic manipulation, is the modification and manipulation of an organism's genes using technology. It is a set of technologies used to change the genetic makeup of cells, including the transfer of genes within and across species boundaries to produce improved or novel organisms .
RNA splicing is a process in molecular biology where a newly-made precursor messenger RNA (pre-mRNA) transcript is transformed into a mature messenger RNA ().It works by removing all the introns (non-coding regions of RNA) and splicing back together exons (coding regions).
Alternative splicing, alternative RNA splicing, or differential splicing, is an alternative splicing process during gene expression that allows a single gene to produce different splice variants. For example, some exons of a gene may be included within or excluded from the final RNA product of the gene. [ 1 ]
Gene structure is the organisation of specialised sequence elements within a gene. Genes contain most of the information necessary for living cells to survive and reproduce. [ 1 ] [ 2 ] In most organisms, genes are made of DNA, where the particular DNA sequence determines the function of the gene.