Catherine BARRIERE

PhD in Molecular and cellular Biology, HDR


Catherine BARRIEREprofile picture

Assistant professor in Cellular and Molecular Biology at the Clermont Auvergne University since 2005, my research is based on the elucidation of mechanisms implicated in human physiopathology.
During my PhD and my first post-doc, I studied physiopathology of familial breast cancer and severe ovarian endometriosis. In 2002, I joined the Pr Odile Boespflug-Tanguy’s group to study hereditary defects of central nervous system myelin formation. During 10 years, I developed projects integrating genomic, transcriptomic and proteomic analyses in order to identify new genes responsible of hypomyelinating leukodystrophies phenotypes and better understand physiopathological mechanisms involved in phenotypes with already known etiology (i.e. leukodystrophies due to PLP1 and MCT8 mutations). I also identified new human specific alternative transcripts from the PLP1 gene which, rather than being expressed in the myelinating cells (i.e. the oloigodendrocytes), were exclusively expressed in neurons. This suggest new roles for PLP in humans which remain to be identified.
Since 2012, I have joined the group directed by Philippe Arnaud. The team is particularly interested in studying epigenetic deregulation in tumors. In this context, I am developing a new project wich aims to evaluate whether deregulation of LINE-1 repeat elements, via LCT transcription, contributes to tumorigenic processes in particular to the H3K27me3 mark profile alteration we have observed in gliomas.


LINE-1 retrotransposons (L1) correspond to abundant repeated elements, representing 17% of the human genome (Landers et al., 2001). One characteristic of the most recent L1 subfamilies (L1PA1 to L1PA10) is to possess a bidirectional promoter in their 5’UTR. This one includes not only the classical internal sense promoter, useful to drive the transcription of the two open reading frames of the L1, but also an antisens promoter (ASP) (Speek, 2001; Macia et al., 2011). This ASP can produce L1 Chimeric Transcripts (LCTs) that include the L1 5’UTR sequence in antisense orientation followed by the adjacent genomic region. By this way, L1 ASPs behave as alternative promoters spread throughout the human genome.  
In a normal cell, one of the main mechanism implied in L1 repression is DNA methylation of the 5’ promoter region. A hallmark of tumoral cells is global DNA methylation, affecting particularly L1 promoters. In tumors, evidences suggest that this hypomethylation would result in activation of ASP, allowing aberant expression of LCTs which in turn could disturb tumorigenesis key genes' expression (i.e. oncogenes & tumor supressors), and even actors of H3K27me3 regulation.

Although several studies have reported the existence of such LCTs in tumors (Speek, 2001; Nigumann et al., 2002; Mätlik et al., 2006; Cruickshanks and Tufarelli, 2009; Wolf et al., 2010; Criscione et al., 2016) and a functional role for some of them (Wolf et al., 2010; Cruickshanks et al., 2013), the pangenomic impact of LCTs in tumorigenesis remains poorly understood.
To take advantage of the strong potential of next generation sequencing to unravel the transcriptome composition, we developed and validated Chimeric LINE Finder (CLIFinder), a new bioinformatics tool that identifies genome-wide transcribed chimera sequences corresponding to LCTs from paired-end RNA-seq data (Pinson et al., 2017). CLIFinder allows the “fishing”, among all the transcriptome’s sequences, of numerous LCTs comprising a L1 sequence and a unique sequence of the genome. The CLIFinder tool is today available for the scientific community to realize extensive analyses in normal and pathological tissues. Indeed, many LCTs have been identified specifically in tumors and are supposed to play a functional role in tumorigenesis.

CLIFinder (Chimeric Line Finder) : a new software dedicated to the identification of LCTs from stranded paired-end RNA-seq data.

In this context, the objectives of the ongoing project are:
1- To investigate the pangenomic extent of the transcriptional deregulation linked to LCTs in glioma tumors
2- To determine the mechanistic basis of the deregulation
3- To establish if, among the identified LCTs, some of them can correspond to new biomarkers, and even play a functional role in tumoral processes, notably in contributing to H3K27me3 epigentic mark deregulation.

Pinson ME, Pogorelcnik R, Court F, Arnaud P, Vaurs-Barrière C. CLIFinder: Identification of LINE-1 Chimeric Transcripts in RNA-seq data. Bioinformatics 2017


  • 2022
  • 2021
    • E. Le Boiteux, F. Court, P. Guichet, C. Vaurs-Barriere, I. Vaillant, E. Chautard, P. Verrelle, B. Costa, L. Karayan-Tapon, A. Fogli and P. Arnaud, “Widespread overexpression from the four DNA hypermethylated HOX clusters in aggressive (IDHwt) glioma is associated with H3K27me3 depletion and alternative promoter usage.”, Molecular oncology, vol. 15 (8) , pp. 1995–2010, 2021.
  • 2019
    • F. Court, E. Le Boiteux, A. Fogli, M. Muller-Barthelemy, C. Vaurs-Barriere, E. Chautard, B. Pereira, J. Biau, J. Kemeny, T. Khalil, L. Karayan-Tapon, P. Verrelle and P. Arnaud, “Transcriptional alterations in glioma result primarily from DNA methylation-independent mechanisms.”, Genome Res., vol. 29 (10) , pp. 1605–1621, 2019.
  • 2018
  • 2017
    • M. Ruiz, M. Begou, N. Launay, P. Ranea-Robles, P. Bianchi, J. Lopez-Erauskin, L. Morato, C. Guilera, B. Petit, C. Vaurs-Barriere, C. Gueret-Gonthier, M. Bonnet-Dupeyron, S. Fourcade, J. Auwerx, O. Boespflug-Tanguy and A. Pujol, “Oxidative stress and mitochondrial dynamics malfunction are linked in Pelizaeus-Merzbacher disease.”, Brain pathology (Zurich, Switzerland), 2017.
    • A. Fogli, M. Demattei, L. Corset, C. Vaurs-Barriere, E. Chautard, J. Biau, J. Kemeny, C. Godfraind, B. Pereira, T. Khalil, N. Grandin, P. Arnaud, M. Charbonneau and P. Verrelle, “Detection of the alternative lengthening of telomeres pathway in malignant gliomas for improved molecular diagnosis.”, Journal of neuro-oncology, 2017.
  • 2016
    • A. Fogli, E. Chautard, C. Vaurs-Barriere, B. Pereira, M. Muller-Barthelemy, F. Court, J. Biau, A. Almeida Pinto, J. Kemeny, T. Khalil, L. Karayan-Tapon, P. Verrelle, B. Costa and P. Arnaud, “The tumoral A genotype of the MGMT rs34180180 single-nucleotide polymorphism in aggressive gliomas is associated with shorter patients' survival.”, Carcinogenesis, vol. 37 (2) , pp. 169-176, 2016.
  • 2015
    • S. Kersseboom, S. Horn, W. Visser, J. Chen, E. Friesema, C. Vaurs-Barriere, R. Peeters, H. Heuer and T. Visser, “In vitro and mouse studies support therapeutic utility of triiodothyroacetic acid in MCT8 deficiency.”, Molecular endocrinology (Baltimore, Md.), pp. me00009999, 2015.
  • 2013
    • M. Gasnier, C. Dennis, C. Vaurs-Barriere and C. Chazaud, “Fluorescent mRNA labeling through cytoplasmic FISH.”, Nat Protoc, vol. 8 (12) , pp. 2538–47, 2013.
    • Y. Capri, E. Friesema, S. Kersseboom, R. Touraine, A. Monnier, E. Eymard-Pierre, V. Des Portes, G. De Michele, A. Brady, O. Boespflug-Tanguy, T. Visser and C. Vaurs-Barriere, “Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation.”, Hum. Mutat., vol. 34 (7) , pp. 1018–25, 2013.
  • 2012
    • P. Combes, V. Planche, E. Eymard-Pierre, C. Sarret, D. Rodriguez, O. Boespflug-Tanguy and C. Vaurs-Barriere, “Relevance of SOX17 variants for hypomyelinating leukodystrophies and congenital anomalies of the kidney and urinary tract (CAKUT).”, Ann. Hum. Genet., vol. 76 (3) , pp. 261–7, 2012.
  • 2011
    • C. Sarret, M. Rigal, C. Vaurs-Barriere, I. Dorboz, E. Eymard-Pierre, P. Combes, G. Giraud, R. Wanders, A. Afenjar, C. Francannet and O. Boespflug-Tanguy, “Sjogren-Larsson syndrome: novel mutations in the ALDH3A2 gene in a French cohort.”, J. Neurol. Sci., vol. 312 (1-2) , pp. 123–6, 2011.
    • S. Grossi, S. Regis, R. Biancheri, M. Mort, S. Lualdi, E. Bertini, G. Uziel, O. Boespflug-Tanguy, A. Simonati, F. Corsolini, E. Demir, V. Marchiani, A. Percesepe, F. Stanzial, A. Rossi, C. Vaurs-Barriere, D. Cooper and M. Filocamo, “Molecular genetic analysis of the PLP1 gene in 38 families with PLP1-related disorders: identification and functional characterization of 11 novel PLP1 mutations.”, Orphanet J Rare Dis, vol. 6 , pp. 40, 2011.
    • O. Boespflug-Tanguy, P. Aubourg, I. Dorboz, M. Begou, G. Giraud, C. Sarret and C. Vaurs-Barriere, “Neurodegenerative disorder related to AIMP1/p43 mutation is not a PMLD.”, Am. J. Hum. Genet., vol. 88 (3) , pp. 392–5, 2011.
    • P. Combes, N. Kammoun, A. Monnier, C. Gonthier-Gueret, G. Giraud, E. Bertini, T. Chahnez, F. Fakhfakh, O. Boespflug-Tanguy and C. Vaurs-Barriere, “Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease.”, Ann. Neurol., vol. 71 (1) , pp. 146–8, 2011.
  • 2009
    • C. Sarret, P. Combes, P. Micheau, A. Gelot, O. Boespflug-Tanguy and C. Vaurs-Barriere, “Novel neuronal proteolipid protein isoforms encoded by the human myelin proteolipid protein 1 gene.”, Neuroscience, vol. 166 (2) , pp. 522–38, 2009.
    • C. Vaurs-Barriere, M. Deville, C. Sarret, G. Giraud, V. Des Portes, J. Prats-Vinas, G. De Michele, B. Dan, A. Brady, O. Boespflug-Tanguy and R. Touraine, “Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.”, Ann. Neurol., vol. 65 (1) , pp. 114–8, 2009.
  • 2008
    • M. Bonnet-Dupeyron, P. Combes, P. Santander, F. Cailloux, O. Boespflug-Tanguy and C. Vaurs-Barriere, “PLP1 splicing abnormalities identified in Pelizaeus-Merzbacher disease and SPG2 fibroblasts are associated with different types of mutations.”, Hum. Mutat., vol. 29 (8) , pp. 1028–36, 2008.
    • M. Bonnet-Dupeyron, P. Combes, O. Boespflug-Tanguy and C. Vaurs-Barriere, “Absence of OLIG2 mutations in patients presenting with a severe Pelizaeus-Merzbacher-like leukodystrophy associated with motor neuron dysfunction.”, Am. j. med. genet., Part B Neuropsychiatr. genet., vol. 147B (4) , pp. 538–9, 2008.
    • O. Boespflug-Tanguy, P. Labauge, A. Fogli and C. Vaurs-Barriere, “Genes involved in leukodystrophies: a glance at glial functions.”, Curr Neurol Neurosci Rep, vol. 8 (3) , pp. 217–29, 2008.