Identification of the Telomere elongation Mutation in Drosophila .

Telomeres in , which have inspired a large part of Sergio Pimpinelli work, are similar to those of other eukaryotes in terms of their function. Yet, their length maintenance relies on the transposition of the specialized retrotransposons , , and , rather than on the activity of the enzyme telomerase as it occurs in most other eukaryotic organisms. The length of the telomeres in thus depends on the number of copies of these transposable elements. Our previous work has led to the isolation of a dominant mutation, , that caused a several-fold elongation of telomeres. In this study, we molecularly identified the mutation by a combination of transposon-induced, site-specific recombination and next-generation sequencing. Recombination located to a 15 kb region in 92A. Comparison of the DNA sequence in this region with the Drosophila Genetic Reference Panel of wild-type genomic sequences delimited to a 3 bp deletion inside intron 8 of Furthermore, CRISPR/Cas9-induced deletions surrounding the same region exhibited the telomere phenotype, confirming a strict requirement of this intron 8 gene sequence for a proper regulation of telomere length.