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Insertional mutagenesis by transposable elements in the mammalian genome
1Department of Hematology, Chaim Sheba Medical Center, Tel-Hashomer, Israel.
Environmental and Molecular Mutagenesis
|January 1, 1993
Summary
Mobile genetic elements in mammals can cause mutations by inserting into DNA. This review details their role in insertional mutagenesis, gene regulation, and diseases like cancer and hemophilia.
Area of Science:
- Genetics
- Molecular Biology
- Genomics
Background:
- Repetitive transposable genetic elements are widespread in mammalian genomes.
- These elements are broadly classified into two main groups based on their structural characteristics.
Purpose of the Study:
- To review the characterization of mammalian repetitive transposable genetic elements.
- To delineate their role in mutagenesis and genome instability.
Main Methods:
- Review of recent characterizations of mammalian repetitive transposable genetic elements.
- Analysis of documented cases of insertional mutagenesis.
Main Results:
- Two main groups of elements exist: those with symmetrical termini (e.g., murine IAP, human THE 1) and those with a poly-A tail (e.g., SINE, LINE).
- Integration of these mobile elements into the host genome causes insertional mutagenesis.
- Both germline and somatic mutations have been observed, leading to gene activation or inactivation and altered phenotypes.
Conclusions:
- Mammalian repetitive transposable genetic elements contribute significantly to genome instability.
- These genetic events are implicated in the development of various disease states, including hemophilia and cancer.