The process by which a cell specifically increases the copy number of a particular gene to a greater extent than it increases the copy number of genes composing the remainder of the genome (all the genes which make up the genetic machinery of an organism). It is therefore distinguished from duplication, which is a precise doubling of the genome preparatory to cell division, and endoreduplication, which leads to endopolyploidy.
Gene amplification results from the repeated replication of the deoxyribonucleic acid (DNA) in a limited portion of the genome, in the absence of or to a much greater extent than replication of DNA composing the remainder of the genome. Thus is formed a cell in which the genes composing a limited portion of the genome are present in relatively high copy number, while the genes composing the remainder of the genome are present in approximately normal copy number. See also Deoxyribonucleic acid (DNA).
Since gene amplification increases the copy number of a specific region of the genome without altering the copy number of genes composing the remainder of the genome, it would appear to offer an alternative method for developmental control of gene expression. By increasing the number of copies of a particular gene, the number of gene copies available for transcription could thereby be increased.
In a number of instances of gene amplification, the amplification phenomenon appears to be developmentally regulated, and the amplified copies of the gene are subsequently lost from the cell. Studies on cells in culture have demonstrated “amplification” of genes involved in resistance to specific drugs. See also Gene; Gene action.