Saturday, 19 November 2011 10:08

Mechanism of a Group of Jumping Genes solved Featured

Researchers of the Department of Medical Biotechnology at the Paul Ehrlich Institute led by Prof. Dr. Gerald Schumann have discovered by which mechanism a group of retrotransposons called SVA elements is distributed in the human genome. Their insights are also significant for stem cell research.

Transposons, also called jumping genes, are DNA sequences which integrate themselves into the human genome similar to viruses. There they can multiply and impair transcription of the original gene sequence. The positions the transposons transpose to are normally random. This has not been seldom during the course of evolution; forty-two per cent of the human genome comprises such elements. Especially retrotransposons are highly active and use RNA as an intermediate stage. Such jumping genes are thought to be responsible for several genetic diseases and for the development of some tumours. Some 200 diseases are ascribed to human retrotransposons.

The researchers found out in cell culture experiments that the investigated retrotransposons, the SVA elements, depend on the protein machinery of another group of transposons, the LINE-1 elements, in order to be able to spread out in the human genome.

This knowledge could be especially important for therapeutic stem cell applications, as transposons are also active in embryonic and pluripotent stem cells.

The researchers point out that fundamental knowledge about the mechanism is necessary and that methods need to be developed in order to prevent the jumping of mobile gene pieces resulting in a destabilisation of the stem cell genome during the cultivation of such cells for therapeutic purposes.


Original publication
Raiz, J., Damert, A., Sergiu, C., Held, U., Klawitter, S., Hamdorf, M., Löwer, J., Strätling, W. H., Löwer, R., Schumann, G. G. (2011): The non-autonomous retrotransposon SVA is trans-mobilized by the human LINE-1 protein machinery. Nucl. Acids Res. Nov 03:1-17.