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An inversion is a chromosome rearrangement in which a segment of a chromosome becomes inverted within its original position. An inversion occurs when a chromosome undergoes a two breaks within the chromosomal arm, and the segment between the two breaks inserts itself in the opposite direction in the same chromosome arm.
Gene conversion resulting in mutation of the CYP21A2 gene is a common underlying genetic cause of congenital adrenal hyperplasia. Somatic gene conversion is one of the mechanisms that can result in familial retinoblastoma , a congenital cancer of the retina , and it is theorized that gene conversion may play a role in the development of ...
The classical example is the Drosophila w m4 (speak white-mottled-4) translocation.In this mutation, an inversion on the X chromosome placed the white gene next to pericentric heterochromatin, or a sequence of repeats that becomes heterochromatic. [3]
In genetics, a fusion gene is a hybrid gene formed from two previously independent genes. It can occur as a result of translocation , interstitial deletion , or chromosomal inversion . Fusion genes have been found to be prevalent in all main types of human neoplasia . [ 1 ]
In genetics, a chromosomal rearrangement is a mutation that is a type of chromosome abnormality involving a change in the structure of the native chromosome. [1] Such changes may involve several different classes of events, like deletions, duplications, inversions, and translocations.
Floxing a gene allows it to be deleted (knocked out), [5] [6] translocated or inserted [7] (through various mechanisms in Cre-Lox recombination). The floxing of genes is essential in the development of scientific model systems as it allows spatial and temporal alteration of gene expression.
For instance, recurrent 400kb inversion in factor VIII gene is a common cause of haemophilia A, [14] and smaller inversions affecting idunorate 2-sulphatase (IDS) will cause Hunter syndrome. [15] More examples include Angelman syndrome and Sotos syndrome .
The inversion event can be simple by involving the toggle in expression of one gene, like E. coli pilin expression, or more complicated by involving multiple genes in the expression of multiple types of flagellin by Salmonella enterica serovar Typhimurium. [3]