Research Interests

In our lab we are interested in the parts of the human genome that move around- what is known as mobile DNA. The sequencing of the human genome has revealed that a surprisingly large proportion (~45%) is derived from mobile or transposable elements. Unlike other genomes, ours is dominated by a single family of active mobile retrotransposons called LINE (for Long INterspersed Elements)-1s or L1s. Retrotransposons are so called because their movement involves the generation of an RNA copy (by transcription) and its subsequent re-insertion back into the genome, after reverse transcription converts the RNA to DNA. This interconversion of DNA and RNA is one of the most ancient biochemical processes. L1 comprises 17% of the human genome by mass and is also responsible for the replication of non-autonomous Alu sequences- a further 10% of the genome. The transposition machinery supplied by L1 has also been implicated in the formation of the approximately 14,000 processed pseudogenes in our genome. To put this in perspective the coding parts of the "real" 30-40,000 human genes occupy only 2% of the genome sequence!

L1 has been continuously active in mammalian genomes for the best part of 100 million years, and is still active today. We are particularly interested in those L1s that have jumped since the origin of our species, since these are likely to be polymorphic between people (i.e. different people will have different collections of L1s in their genomes) and still active. Such "young" insertions are useful genetic markers for studies of human population and evolutionary genetics, as well as enabling investigation of the retrotransposition process, many aspects of which are very poorly understood. We use a combination of bioinformatics and molecular genetics to acquire, describe and analyse human specific L1s. This work will ultimately (we hope) answer questions such as: How many active L1s do we each have and how does this vary between us? How often do L1s move, and is this dependent upon the particular collection of L1s an individual carries? How often to L1s jump into genes and once there, what are the consequences?

Badge R.M., Alisch R.S., Moran J.V. (2003) " ATLAS: a system to selectively identify human-specific L1 insertions. " Am J Hum Genet. 72: 823-38.

Brouha B., Schustak J., Badge R.M., Lutz-Prigge S, Farley A.H., Moran J.V., Kazazian H.H. Jr. (2003) " Hot L1s account for the bulk of retrotransposition in the human population. " Proc Natl Acad Sci U S A. 100: 5280-5.

Cheng Y., Lee C., Badge R.M., Orme A.T. and Scotting, P.J. (2001) "Sox8 gene expression identifies immature glial cells in developing cerebellum and cerebellar tumours." Brain Res Mol Brain Res. 92: 193-200.

Badge, R.M., Yardley, J., Jeffreys, A.J., Armour, J.A.L. (2000) "Crossover breakpoint mapping identifies a subtelomeric hotspot for male meiotic recombination." Human Molecular Genetics 9: 1239-1244.

Badge, R.M. and Brookfield, J.F.Y. (1998) " A novel repressor of P element transposition in Drosophila melanogaster .
" Genetical research Camb ridge 71: 21-30.

Search PubMed at the US National Library of Medicine for this author:
Dr R. Badge