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Gene duplication (or chromosomal duplication or gene amplification) is a major mechanism through which new genetic material is generated during molecular evolution. It can be defined as any duplication of a region of DNA that contains a gene .
The 2R hypothesis saw a resurgence of interest in the 1990s for two reasons. First, gene mapping data in humans and mice revealed extensive paralogy regions - sets of genes on one chromosome related to sets of genes on another chromosome in the same species, indicative of duplication events in evolution. [9]
P – Point mutation, or any insertion/deletion entirely inside one gene; D – Deletion of a gene or genes; Dup - Duplication of a gene or genes; C – Whole chromosome extra, missing, or both (see chromosome abnormality) T – Trinucleotide repeat disorders: gene is extended in length
Unequal crossing over is a type of gene duplication or deletion event that deletes a sequence in one strand and replaces it with a duplication from its sister chromatid in mitosis or from its homologous chromosome during meiosis. It is a type of chromosomal crossover between homologous sequences that are not paired precisely. Normally genes are ...
If a gene duplication is preserved, the most likely fate is that random mutations in one duplicate gene copy will eventually cause the gene to become non-functional . [3] Such non-functional remnants of genes, with detectable sequence homology, can sometimes still be found in genomes and are called pseudogenes.
A gene family is a set of several similar genes, formed by duplication of a single original gene, and generally with similar biochemical functions. One such family are the genes for human hemoglobin subunits; the ten genes are in two clusters on different chromosomes, called the α-globin and β-globin loci.
In humans, chromosomes Y and 22 have the greatest proportion of SDs: 50.4% and 11.9% respectively. [2] SRGAP2 is an SD. Misalignment of LCRs during non-allelic homologous recombination (NAHR) [ 3 ] is an important mechanism underlying the chromosomal microdeletion disorders as well as their reciprocal duplication partners. [ 4 ]
This gene duplication has created a copy number variation. The chromosome now has two copies of this section of DNA, rather than one. Copy number variation (CNV) is a phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals. [1]