Edgar Benko

Publications (2)9.68 Total impact

• Source

  Available from: Alexandra Caude

  Dataset: PNAS-2012-Cartault

  François Cartault, Patrick Munier, Edgar Benko, Isabelle Desguerre, Sylvain Hanein, Nathalie Boddaert, Simonetta Bandiera, Jeanine Vellayoudom, Pascale Krejbich-Trotot, Marc Bintner, [......], Alain Fourmaintraux, Magali Naville, Diana Rodriguez, Josué Feingold, Michel Renouil, Arnold Munnich, Eric Westhof, Michael Fähling, Stanislas Lyonnet, Alexandra Henrion-Caude
• Source

  Available from: Emmanuelle Genin

  Article: Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy.

  François Cartault, Patrick Munier, Edgar Benko, Isabelle Desguerre, Sylvain Hanein, Nathalie Boddaert, Simonetta Bandiera, Jeanine Vellayoudom, Pascale Krejbich-Trotot, Marc Bintner, [......], Alain Fourmaintraux, Magali Naville, Diana Rodriguez, Josué Feingold, Michel Renouil, Arnold Munnich, Eric Westhof, Michael Fähling, Stanislas Lyonnet, Alexandra Henrion-Caude
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  ABSTRACT: The human genome is densely populated with transposons and transposon-like repetitive elements. Although the impact of these transposons and elements on human genome evolution is recognized, the significance of subtle variations in their sequence remains mostly unexplored. Here we report homozygosity mapping of an infantile neurodegenerative disease locus in a genetic isolate. Complete DNA sequencing of the 400-kb linkage locus revealed a point mutation in a primate-specific retrotransposon that was transcribed as part of a unique noncoding RNA, which was expressed in the brain. In vitro knockdown of this RNA increased neuronal apoptosis, consistent with the inappropriate dosage of this RNA in vivo and with the phenotype. Moreover, structural analysis of the sequence revealed a small RNA-like hairpin that was consistent with the putative gain of a functional site when mutated. We show here that a mutation in a unique transposable element-containing RNA is associated with lethal encephalopathy, and we suggest that RNAs that harbor evolutionarily recent repetitive elements may play important roles in human brain development.
  Proceedings of the National Academy of Sciences 03/2012; 109(13):4980-5. · 9.68 Impact Factor