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  2. Chromosomal inversion - Wikipedia

    en.wikipedia.org/wiki/Chromosomal_inversion

    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.

  3. Structural variation in the human genome - Wikipedia

    en.wikipedia.org/wiki/Structural_variation_in...

    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 ...

  4. Position-effect variegation - Wikipedia

    en.wikipedia.org/wiki/Position-effect_variegation

    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 ]

  5. Site-specific recombinase technology - Wikipedia

    en.wikipedia.org/wiki/Site-specific_recombinase...

    Placement of Cre under control of such a promoter results in localized, tissue-specific expression. As an example, Leone et al. have placed the transcription unit under the control of the regulatory sequences of the myelin proteolipid protein (PLP) gene, leading to induced removal of targeted gene sequences in oligodendrocytes and Schwann cells ...

  6. Site-specific recombination - Wikipedia

    en.wikipedia.org/wiki/Site-specific_recombination

    The mechanism occurs in the framework of a synaptic complex (1) including both DNA sites in parallel orientation. While branch-migration explains the specific homology requirements and the reversibility of the process in a straightforward manner, it cannot be reconciled with the motions recombinase subunits have to undergo in three dimensions.

  7. V (D)J recombination - Wikipedia

    en.wikipedia.org/wiki/V(D)J_recombination

    All gene segments between the V β-D β-J β gene segments in the newly formed complex are deleted and the primary transcript is synthesized that incorporates the constant domain gene (V β-D β-J β-C β). mRNA transcription splices out any intervening sequence and allows translation of the full length protein for the TCR β-chain.

  8. Position effect - Wikipedia

    en.wikipedia.org/wiki/Position_effect

    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 ...

  9. Fusion gene - Wikipedia

    en.wikipedia.org/wiki/Fusion_gene

    The first fusion gene [1] was described in cancer cells in the early 1980s. The finding was based on the discovery in 1960 by Peter Nowell and David Hungerford in Philadelphia of a small abnormal marker chromosome in patients with chronic myeloid leukemia—the first consistent chromosome abnormality detected in a human malignancy, later designated the Philadelphia chromosome. [3]