What is a deletion?

A deletion in DNA replication is a mutation that occurs during DNA copying, where a segment of the original DNA sequence is lost from the newly synthesized strand. It's like accidentally skipping some words while copying a text, but with potentially significant consequences for the organism.

What are the main features of deletion?

• Mechanism: Deletions can arise due to errors during DNA replication, slippage of DNA polymerase (the enzyme copying DNA), or the action of transposable elements (jumping genes) that excise themselves from one location and reinsert elsewhere, taking a piece of the original DNA with them.
• Size: Deletions can range from a single nucleotide to entire genes or even large chromosomal segments.
• Consequences: The impact of deletions depends heavily on the size and location of the missing DNA. Small deletions might have minimal effects, while larger deletions can disrupt genes, alter protein function, and potentially lead to severe genetic diseases.

Why is deletion important?

• Understanding deletions is crucial for studying how mutations arise and contribute to genetic variation.
• Some deletions can be beneficial, creating new genetic diversity or removing regulatory elements that might have been repressing gene expression.
• However, deletions are more commonly detrimental, causing various genetic disorders by disrupting genes or regulatory regions.

What are applications of deletion in practice?

• Genetic Testing: Analyzing DNA sequences for deletions helps diagnose genetic diseases caused by such mutations.
• Cancer Research: Studying deletions in cancer genomes can reveal tumor suppressor genes that have been inactivated and identify potential therapeutic targets.
• Evolutionary Studies: Analyzing deletion patterns in different species can provide insights into genome evolution and adaptation.

Practical example

• DiGeorge syndrome is a genetic disorder caused by a deletion on chromosome 22. This deletion removes several genes, including some crucial for heart development. This can lead to various congenital heart defects, characteristic features of the syndrome.

Critical comments

• Detecting deletions in DNA sequences can be challenging, especially for small deletions.
• The long-term effects of deletions, particularly larger ones, are not always fully understood.
• Ethical concerns exist regarding the potential consequences of using gene editing techniques that could inadvertently cause deletions.