J. Cavaillé

Publications65
h-index38
Citations6,553
Highly Influential Citations302
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Identification of brain-specific and imprinted small nucleolar RNA genes exhibiting an unusual genomic organization.
TLDR
Three C/D-box small nucleolar RNAs (snoRNAs) and one H/ACA-box snoRNA in mouse and human are identified, demonstrating their paternal imprinting status and pointing to their potential role in the etiology of PWS.
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The expanding snoRNA world.
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A large imprinted microRNA gene cluster at the mouse Dlk1-Gtl2 domain.
TLDR
It is shown that the miRNA genes are only expressed from the maternally inherited chromosome and that their imprinted expression is regulated by an intergenic germline-derived differentially methylated region (IG-DMR) located approximately 200 kb upstream from the mi RNA cluster.
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Asymmetric regulation of imprinting on the maternal and paternal chromosomes at the Dlk1-Gtl2 imprinted cluster on mouse chromosome 12
TLDR
It is shown that deletion of the IG-DMR from the maternally inherited chromosome causes bidirectional loss of imprinting of all genes in the 1-Mb cluster and indicates that the two parental chromosomes control allele-specific gene expression differently.
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RNAi-Mediated Allelic trans-Interaction at the Imprinted Rtl1/Peg11 Locus
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Imprinted microRNA genes transcribed antisense to a reciprocally imprinted retrotransposon-like gene
TLDR
It is shown that the imprinted mouse distal chromosome 12 locus encodes two miRNA genes expressed from the maternally inherited chromosome and antisense to a retrotransposon-like gene (Rtl1) expressed only from the paternal allele.
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ADAR2-mediated editing of RNA substrates in the nucleolus is inhibited by C/D small nucleolar RNAs
TLDR
This work shows that ADAR2- but not ADAR1-mediated RNA editing occurs in the nucleolus, and identifies a brain-specific small RNA, termed MBII-52, which was predicted to function as a nucleolar C/D RNA, thereby targeting an A-to-I editing site (C-site) within the 5-HT2C serotonin receptor pre-mRNA for 2′-O-methylation.
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C19MC microRNAs are processed from introns of large Pol-II, non-protein-coding transcripts
TLDR
It is shown that C19MC miRNAs are intron-encoded and processed by the DGCR8-Drosha (Microprocessor) complex from a previously unidentified, non-protein-coding Pol-II (and not Pol-III) transcript which is mainly, if not exclusively, expressed in the placenta.
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Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region.
TLDR
Analysis of the orthologous region in the mouse shows that the previously reported maternally expressed Rian gene, located downstream of Gtl2 on the distal 12 chromosome, encodes at least nine C/D snoRNAs, and suggests a role for these sno RNAs and/or their host non-coding RNA genes in the evolution and/ or mechanism of the epigenetic imprinting process.
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Archaeal homologs of eukaryotic methylation guide small nucleolar RNAs: lessons from the Pyrococcus genomes.
TLDR
Archaeal genomes are searched for potential homologs of eukaryotic methylation guide small nucleolar RNAs, by combining searches for structured motifs with homology searches, and a family of 46 small RNAs is identified, conserved in the genomes of three hyperthermophile Pyrococcus species, which are experimentally characterized in PyrocOCcus abyssi.
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