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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.
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]
The products of this mechanism from the sequence repeats is depicted in Figure 2. A study was done on the olfactory receptor gene clusters where they questioned if there was an association between normal rearrangement of 8p and the repeated inverted sequences. The researchers observed that the rearrangement of chromosomes was actually caused by ...
There are several inversions known which are related to human disease. 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. However, recent ...
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.
Position effect is the effect on the expression of a gene when its location in a chromosome is changed, often by translocation. This has been well described in Drosophila with respect to eye color and is known as position effect variegation (PEV). [1] The phenotype is well characterised by unstable expression of a gene that results in the red ...
The outcome can be activation of transcription or repression of a gene. For example, the combination of acetylation and phosphorylation have synergistic effects on the chromosomes overall structural condensation level and, hence, induces transcription activation of immediate early gene. [22]
L1 transposons are most ubiquitous in mammals, where they make up a significant fraction of the total genome length, [1] [2] for example they comprise approximately 17% of the human genome. [3] These active L1s can interrupt the genome through insertions, deletions, rearrangements, and copy number variations . [ 4 ]