Article
The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion.
PLoS genetics - 1 Nov 2011
Wimmer Katharina, Callens Tom, Wernstedt Annekatrin, Messiaen Ludwine
Abstract excerpt
Long interspersed (L1) and Alu elements are actively amplified in the human genome through retrotransposition of their RNA intermediates by the -100 still retrotranspositionally fully competent L1 elements. Retrotransposition can cause inherited disease if such an element is inserted near or within a functional gene. Using direct cDNA sequencing as the primary assay for comprehensive NF1 mutation analysis, we...
Topics
- Alleles
- Alternative Splicing
- Alu Elements
- DNA, Complementary
- Endonucleases
- Exons
- Genome, Human
- Humans
- Introns
- Long Interspersed Nucleotide Elements
- Mutagenesis, Insertional
- Mutation
- Neurofibromatosis 1
- Neurofibromin 1
- Sequence Analysis, DNA