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

doi:10.1073/pnas.1111596109

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Article

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

Proceedings of the National Academy of Sciences of the United States of America - 27 Mar 2012

Cartault François, Munier Patrick, Benko Edgar, Desguerre Isabelle, Hanein Sylvain, Boddaert Nathalie, Bandiera Simonetta, Vellayoudom Jeanine, Krejbich-Trotot Pascale, Bintner Marc, Hoarau Jean-Jacques, Girard Muriel, Génin Emmanuelle, de Lonlay Pascale, Fourmaintraux Alain, Naville Magali, Rodriguez Diana, Feingold Josué, Renouil Michel, Munnich Arnold, Westhof Eric, Fähling Michael, Lyonnet Stanislas, Henrion-Caude Alexandra

Abstract excerpt

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...

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PMID: 22411793
DOI: 10.1073/pnas.1111596109
PMCID: PMC3323976

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