Insertion sequence

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Insertion sequence[edit | edit source]

An insertion sequence (often abbreviated as IS) is a short segment of DNA that can move from one location in a genome to another. These sequences are found in both prokaryotic and eukaryotic organisms, and play a significant role in genetic diversity and evolution.

Structure[edit | edit source]

Insertion sequences typically consist of two terminal inverted repeats, which are sequences that are identical but in opposite orientations. Between these repeats is a gene encoding a transposase enzyme, which is responsible for the movement of the insertion sequence within the genome.

Mechanism of Transposition[edit | edit source]

The transposase enzyme recognizes the terminal inverted repeats of the insertion sequence and catalyzes the excision of the sequence from its original location. The insertion sequence is then inserted into a new location in the genome through a process known as transposition.

Role in Genetic Variation[edit | edit source]

Insertion sequences are considered mobile genetic elements, as they have the ability to move within a genome. This mobility can lead to genetic rearrangements, such as gene disruptions or duplications, which can contribute to genetic diversity within a population.

Impact on Gene Expression[edit | edit source]

When an insertion sequence inserts itself within a gene, it can disrupt the normal function of that gene. This disruption can lead to changes in gene expression, potentially resulting in altered phenotypes in the organism.

Examples[edit | edit source]

One well-known insertion sequence is the IS element found in bacteria. These elements have been extensively studied and are known to play a role in bacterial evolution and adaptation to different environments.

Clinical Relevance[edit | edit source]

In some cases, insertion sequences can be associated with genetic disorders in humans. For example, certain genetic diseases may result from the insertion of a sequence within a critical gene, leading to a loss of function or abnormal gene expression.

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Contributors: Prab R. Tumpati, MD