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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 Cre-Lox system is widely used to manipulate gene expression in model organisms such as mice in order to study human diseases and drug development. [3] For example, using the Cre-Lox system, researchers are able to study oncogenes and tumor suppressor genes and their role in the development and progression of cancer in mouse models. [4]
An example of a gene family that may have been created due to copy number variations is the globin gene family. The globin gene family is an elaborate network of genes consisting of alpha and beta globin genes including genes that are expressed in both embryos and adults as well as pseudogenes . [ 31 ]
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]
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]
A study found that forty percent of haemophilia A patients had a factor 8 gene inversion of a certain region that was four hundred kb in size. [4] The inversion breakpoint was found to be around a segmental duplication which is observed in many other inversion events. [4] It is difficult to completely understand how each structural variant is ...
The antithrombin III gene's coding region is an example of an imperfect inverted repeat as shown in the figure on the right. The stem-loop structure forms with a bump at the bottom because the G and T do not pair up. A strand switch event could result in the G (in the bump) being replaced by an A which removes the "imperfection" in the inverted ...