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A free scan shows the junk files, broken settings and background clutter dragging Windows down - then fixes them in one click.Free scan · Windows 10 & 11Jumping genes are DNA sequences, formally called transposable elements, that can move to new places in the genome. Most of the copies in human DNA are inactive remnants, not genes currently jumping around. A small number can still move, sometimes disrupting genes or changing their activity; over evolutionary time, other transposable-element sequences have also been put to use in normal biological functions.
What are jumping genes?
“Jumping genes” is a common name for transposable elements: stretches of DNA that can relocate within a genome. They are not usually genes in the everyday sense of instructions for building a protein. Some carry the machinery needed for movement; others rely on proteins made by another element.
Transposable-element-derived sequences account for roughly half of human DNA, though estimates vary with the source and how the sequences are classified. That large share reflects generations of accumulated copies, including many that have been damaged or silenced. It does not mean that half of a person’s DNA is active or moving.
How do they move?
| Type | Movement process | Human example |
|---|---|---|
| DNA transposons | Generally move by a “cut-and-paste” process: the sequence is excised from one location and inserted elsewhere. | Not specified in the cited reviews as the principal currently active human element. |
| Retrotransposons | Use a “copy-and-paste” route: DNA is transcribed into RNA, the RNA is reverse-transcribed into DNA, and the new copy is inserted at another site. | LINE-1 (L1) is the principal autonomous retrotransposon discussed in humans. Alu and SVA elements can use LINE-1-encoded proteins to move, despite not encoding all the required machinery themselves. |
The 2017 review by Haig H. Kazazian Jr. and John V. Moran estimates that roughly 100 LINE-1 copies per human genome retain activity. This is an estimate of potentially active copies, not a count of elements moving in each person; a small subset of “hot” LINE-1 elements accounts for most LINE-1-mediated disease described in the review. Cells also suppress mobility through mechanisms including DNA methylation and other forms of transcriptional silencing.
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What can an insertion do to DNA?
A new insertion can alter DNA at the landing site. If it lands inside a gene, it may interrupt the coding sequence or change how the gene’s RNA is spliced. If it lands in or near a regulatory region, it may change the expression of a nearby gene. Repeated copies can also misalign and recombine with one another, contributing to deletions, duplications, or other rearrangements.
The outcome depends on where an element inserts and how that particular sequence behaves. Many insertions have no noticeable effect; some can disrupt an important function. A sequence’s presence alone does not establish that it is active or harmful.
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When can jumping genes cause disease?
There are documented cases where a retrotransposon insertion disrupts a gene and causes a disorder. In a historical example reviewed by Kazazian and Moran, LINE-1 insertions disrupting the F8 gene were found in 2 of 240 boys with hemophilia A. The authors estimate that about 1 in every 250 pathogenic human mutations is attributable to LINE-1-mediated retrotransposition. These figures describe the review’s findings and estimate, not an individual’s personal risk.
The authors characterize live mobile elements as a rare cause of genetic disease. Most disease-associated mutations have other causes, and most transposable-element copies are inactive.
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What about cancer, neurological conditions, and psychiatric disorders?
Researchers study transposable-element activity in cancer and neurological and psychiatric conditions, but an association is not proof that an element caused a disease. For example, Kazazian and Moran report that elevated expression of human endogenous retroviruses has been observed in affected tissues in several conditions, while noting that its pathogenic role is unknown.
In work highlighted by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), researchers evaluated more than 17,000 transposable elements, identified 76 candidates based on genome-wide association findings, and carried out further analyses on 10 candidate insertions. Regulatory effects were observed in human neural stem cells. These are candidate findings, not proof that the insertions cause psychiatric disorders.
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Can jumping genes also be useful?
Transposable elements have contributed genetic variation over evolutionary time and can provide sequences that influence gene regulation. Some viral-derived sequences have been incorporated into host regulatory networks. Proteins derived from endogenous retroviruses also play important roles in placental development, as described by Kazazian and Moran.
Those examples show that some sequences originating from mobile elements have been put to use by the host. They do not mean that every insertion is beneficial; the effect depends on the sequence and where it is located.
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Sources
- Kazazian HH Jr, Moran JV. “Mobile DNA in Health and Disease.” New England Journal of Medicine, published July 27, 2017.
- “Role of Transposable Elements in Genome Stability: Implications for Health and Disease.” International Journal of Molecular Sciences, 2022.
- Eunice Kennedy Shriver National Institute of Child Health and Human Development, “Understanding the Role of ‘Jumping Genes’ in Psychiatric Disorders.”
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