Imprinted small non-coding RNAs

Jérôme Cavaille

Directeur de Recherche, CNRS
05 61 33 59 34

Team members

  • David Umlauf
  Technical staff
  • Marie-Line Cavaille
  • Virginie Marty
  • Jade Hebras


Our research focuses on hundreds small noncoding RNAs belonging to the microRNA and C/D snoRNA families. These genes map to chromosomal regions regulated by genomic imprinting, an epigenetic phenomenon by which a few genes are mono-allelically expressed in a parent-of-origin specific manner. The rationale of our research is to explore the impact of recently evolved, imprinted small RNA genes on the evolution, expression and function of mammalian genomes, including in pathological contexts such as the Prader-Willi syndrome.


Imprinted C/D snoRNA genes at the PWS locus

Imprinted miRNA genes at the Dlk1-Dio3 locus

Imprinted miRNA genes at the C19MC locus


  • 2014 Jan Labialle S*, Marty V*, Bortolin-Cavaille M-L, Hoareau-Osman M, Pradère J-P, Valet P, Martin G. P, Cavaille J (2014) The miR-379/miR-410 cluster at the imprinted Dlk1-Dio3 domain controls neonatal metabolic adaptation. EMBO J. 2014 Aug 14. pii: e201387038.
  • 2014 Jan Bieth E, Eddiry S, Gaston V, Lorenzini F, Buffet A, Conte Auriol F, Molinas M, Cailley D, Rooryck C, Arveiler B, Cavaillé J, Salles J-P, Tauber M (2014) Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi syndrome. Eur J Hum Genet. 2014 Jun 11. doi: 10.1038/ejhg.2014.103
  • 2013 Jan Preti M, O'Donohue MF, Montel-Lehry N, Bortolin-Cavaille ML, Choesmel V, Gleizes PE (2013) Gradual processing of the ITS1 from the nucleolus to the cytoplasm during synthesis of the human 18S rRNA. Nucleic acids research 41: 4709-4723
  • 2012 Jan Bellemer C, Bortolin-Cavaille ML, Schmidt U, Jensen SM, Kjems J, Bertrand E, Cavaille J (2012) Microprocessor dynamics and interactions at endogenous imprinted C19MC microRNA genes. Journal of Cell Science 125: 2709-2720
  • 2012 Jan Bortolin-Cavaille ML, Cavaille J (2012) The SNORD115 (H/MBII-52) and SNORD116 (H/MBII-85) gene clusters at the imprinted Prader-Willi locus generate canonical box C/D snoRNAs. Nucleic acids research 40: 6800-6807

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