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Karine Choquet

Professeure, Faculté de médecine et des sciences de la santé
FMSS Dép. de biochimie et de génomique fonction.

Présentation

Sujet de recherche

Bioinformatique, Génétique moléculaire, Génomique, Maladies neurologiques

Disciplines de recherche

Biologie moléculaire, Génétique

Mots-clés

Épissage, Séquençage par nanopores, Maturation de l'ARN, Génomique fonctionnelle, Bio-informatique, ARN non-codant, Variants génétiques, Maladies neurologiques, Vieillissement

Intérêts de recherche

Approches de biologie moléculaire, de génomique fonctionnelle et de bio-informatique pour étudier la maturation de l’ARN et son rôle dans le vieillissement et les maladies humaines. Séquençage direct d’ARN par nanopores. Mécanismes de régulation de l’épissage alternatif et de la polyadénylation des pré-ARN messagers. Couplage entre l’épissage et la maturation des petits ARNs non-codants.

Centre de recherche

Centre de recherche sur le vieillissement du CIUSSS de l’Estrie – CHUS

Langues parlées et écrites

Anglais, Français

Diplômes

(2018). Genetic and molecular characterization of new forms of leukodystrophies and inherited ataxias (Doctorat, Doctorat en génétique humaine). McGill University.

(2012). (Baccalauréat spécialisé, Baccalauréat en biochimie et médecine moléculaire). Université de Montréal.

Expérience académique

Professeure adjointe. (2023-). Université de Sherbrooke. Canada.

Stagiaire post-doctorale. (2018-2023). Harvard University. États-Unis d'Amérique.

Étudiante aux cycles supérieurs. (2012-2018). McGill University. Canada.

Financement

  • Bourse de recherche. (Obtenu). Candidat principal. CIHR Post-Doctoral Fellowship. Instituts de Recherche en Santé du Canada (IRSC). Post-doctoral fellowship. 135 000 $. (2020-2023)
  • Bourse de recherche. (Obtenu). Candidat principal. FRQS Post-Doctoral Award. Fonds de recherche du Québec - Santé (FRQS). Post-doctoral fellowship. 120 000 $. (2018-2021)

Publications

Articles de revue

  • Bergeron D, Faucher-Giguère L, Emmerichs AK, Choquet K, Song KS, Deschamps-Francoeur G, Fafard-Couture E, Rivera A, Couture S, Churchman LS, Heyd F, Abou Elela S, Scott MS. (2023). Base pairing between intronic small nucleolar RNAs and neighbouring intronic sequences can regulate the splicing of the host gene. Genome Biology 24 160. (Article publié).
  • Kramer NJ, Prakash G, Choquet K, Soto I, Petrova B, Merens HE, Kanarek N, Churchman LS. (2023). Genome-wide screens for mitonuclear co-regulators uncover links between compartmentalized metabolism and mitochondrial gene expression. Pre-print at bioRxiv DOI. (Révision demandée).
  • Choquet K, Koenigs A, Dülk SL, Smalec BM, Rouskin S, Churchman LS. (2023). Pre-mRNA splicing order is predetermined and maintains splicing fidelity across multi-intronic transcripts. Nature Structural & Molecular Biology (Article sous presse).
  • Martell DJ, Merens HE, Fiorini C, Caulier A, Ulirsch J, Ietswaart R, Choquet K, Graziadei G, Brancaleoni V, Cappellini MD, Scott C, Roberts N, Proven M, Roy NBA, Babbs C, Higgs DR, Sankaran VG, Churchman LS. (2023). RNA Polymerase II pausing temporally coordinates cell cycle progression and erythroid differentiation. Pre-print in medRxiv (Article accepté).
  • McShane E, Couvillion M, Ietswaart R, Prakash G, Smalec BM, Soto I, Baxter-Koenigs AR, Choquet K, Churchman LS. (2023). Regulatory principles of human mitochondrial gene expression revealed by kinetic analysis of the RNA life cycle. Pre-print at bioRxiv DOI. (Article soumis).
  • Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C, Jaunmuktane Z, Sonnen JA, Larivière R, Genís D, Porcel LM, Choquet K, Sakalla R, Provost S, Robertson R, Allard-Chamard X, Tétreault M, Reiling SJ, Nagy S, Nishadham V, Purushottam M, Vengalil S, Bardhan M, Nalini A, Chen Z, Mathieu J, Massie R, Chalk CH, Lafontaine AL, Evoy F, Rioux MF, Ragoussis J, Boycott KM, Dubé MP, Duquette A, Houlden H, Ravenscroft G, Laing NG, Lamont PJ, Saporta MA, Schüle R, Schöls L, La Piana R, Synofzik M, Zuchner S, Brais B. (2022). FGF14Deep Intronic GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. New England Journal of Medicine 388 128-141. (Article publié).
  • Smalec BM, Ietswaart R, Choquet K, McShane E, West ER, Churchman LS. (2022). Genome-wide quantification of RNA flow across subcellular compartments reveals determinants of the mammalian transcript life cycle. Pre-print at bioRxiv DOI. (Révision demandée).
  • Lata E, Choquet K, Sagliocco F, Brais B, Bernard G, Teichmann M. (2021). RNA Polymerase III Subunit Mutations in Genetic Diseases. Front Mol Biosci 8 696438. (Article publié).
  • Drexler HL, Choquet K, Merens HE, Tang PS, Simpson JT, Churchman LS. (2021). Revealing nascent RNA processing dynamics with nano-COP. Nature Protocols 16 1343-1375. (Article publié).
  • Nicolau S, Choquet K, Bareke E, Shao YH, Brais B, O’Ferrall EK, Tétreault M, Karamchandani J. (2020). A molecular diagnosis of LGMDR1 established by RNA sequencing. Can J Neurol Sci 48 293-296. (Article publié).
  • Gauquelin L, Hartley T, Tarnopolsky M, Dyment DA, Brais B, Geraghty MT, Tétreault M, Ahmed S, Rojas S, Choquet K, Majewski J, Bernier F, Innes AM, Rouleau G, Suchowersky O, Boycott KM, Yoon G. (2020). Channelopathies are a frequent cause of genetic ataxias associated with cerebellar atrophy. Mov Disord Clin Pract 7 940-949. (Article publié).
  • Drexler HL, Choquet K, Churchman LS. (2020). Splicing kinetics and coordination revealed by direct nascent RNA sequencing through nanopores. Molecular Cell 77 985-998. (Article publié).
  • Choquet K, Forget D, Meloche E, Dicaire MJ, Bernard G, Vanderver A, Schiffmann R, Fabian MR, Teichmann M, Coulombe B, Brais B, Kleinman CL. (2019). POLR3ALeukodystrophy-associated mutations down-regulate the RNA polymerase III transcript and important regulatory RNA. Journal of Biological Chemistry 294 7445-7459. (Article publié).
  • Choquet K, Pinard M, Yang S, Moir RD, Poitras C, Dicaire MJ, Sgarioto N, Lariviere R, Kleinman CL, Willis IM, Gauthier MS, Coulombe B, Brais B. (2019). Polr3bThe leukodystrophy mutation R103H causes homozygote mouse embryonic lethality and impairs RNA Polymerase III biogenesis. Molecular Brain 12 59. (Article publié).
  • Larivière R, Sgarioto N, Márquez BT, Gaudet R, Choquet K, McKinney RA, Watt AJ, Brais B. (2019). Sacs R272C missense homozygous mice develop an ataxia phenotype. Molecular Brain 12 19. (Article publié).
  • Calabretta S, Vogel G, Yu Z, Choquet K, Darbelli L, Nicholson TB, Kleinman CL, Richard S. (2018). Loss of PRMT5 Promotes PDGFR Degradation during Oligodendrocyte Differentiation and Myelination. Developmental Cell 46 426-440. (Article publié).
  • Choquet K, Yang S, Moir RD, Forget D, Larivière R, Bouchard A, Poitras C, Sgarioto N, Dicaire MJ, Noohi F, Kennedy TE, Rochford J, Bernard G, Teichmann M, Coulombe B, Willis IM, Kleinman CL, Brais B. (2017). Absence of neurological abnormalities in mice homozygous for the Polr3a G672E hypomyelinating leukodystrophy mutation. Molecular Brain 10 13. (Article publié).
  • Antonicka H, Choquet K, Lin ZY, Gingras AC, Kleinman CL, Shoubridge EA. (2017). A pseudouridine synthase module is essential for mitochondrial protein synthesis and cell viability. EMBO Reports 18 28-38. (Article publié).
  • Vasli N, Harris E, Karamchandani J, Bareke E, Majewski J, Romero NB, Stojkovic T, Barresi R, Tasfaout H, Charlton R, Malfatti E, Bohm J, Marini-Bettolo C, Choquet K, Dicaire MJ, Shao YH, Topf A, O'Ferrall E, Eymard B, Straub V, Blanco G, Lochmüller H, Brais B, Laporte J, Tétreault M. (2017). Recessive mutations in the kinase ZAK cause a congenital myopathy with fibre type disproportion. Brain 140 37-48. (Article publié).
  • Darbelli L, Choquet K, Richard S, Kleinman CL. (2017). Transcriptome profiling of mouse brains with qkI-deficient oligodendrocytes reveals major alternative splicing defects including self-splicing. Scientific Reports 7 7554. (Article publié).
  • Choquet K, Zurita-Rendon O, La Piana R, Yang S, Dicaire MJ, Care4Rare Consortium, Boycott KM, Majewski J, Shoubridge EA, Brais B, Tétreault M. (2016). Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA. Brain 139 e19. (Article publié).
  • Shao YH, Choquet K, La Piana R, Tétreault M, Care4Rare Consortium, Boycott KM, Majewski J, Brais B. (2016). GALCNovel mutations in cause late-onset Krabbe disease with predominant cerebellar ataxia. Neurogenetics 17 137-141. (Article publié).
  • Binan L, Mazzaferri J, Choquet K, Lorenzo LE, Wang YC, Affar EB, De Koninck Y, Ragoussis J, Kleinman CL, Costantino S. (2016). Live single-cell laser tag. Nature communications 7 11636. (Article publié).
  • Choquet K, Tétreault M, Yang S, La Piana R, Dicaire MJ, Vanstone MR, Mathieu J, Bouchard JP, Rioux MF, Rouleau GA, Care4Rare Canada Consortium, Boycott KM, Majewski J, Brais B. (2016). SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases. European Journal of Human Genetics 24 1016-1021. (Article publié).
  • Choquet K, La Piana R, Brais B. (2015). A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia. Neurogenetics 16 233-236. (Article publié).
  • O'Brien SF, Osmond L, Choquet K, Yi QL, Goldman M. (2015). Donor attention to reading materials. Vox Sanguinis 109 336-342. (Article publié).
  • Thiffault I, Wolf NI, Forget D, Guerrero K, Tran LT, Choquet K, Lavallée-Adam M, Poitras C, Brais B, Yoon G, Sztriha L, Webster RI, Timmann D, van de Warrenburg BP, Seeger J, Zimmermann A, Máté A, Goizet C, Fung E, van der Knaap MS, Fribourg S, Vanderver A, Simons C, Taft RJ, Yates Iii JR, Coulombe B, Bernard G. (2015). Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. Nature Communications 6 7623. (Article publié).
  • O'Brien SF, Uzicanin S, Choquet K, Yi QL, Fan W, Goldman M. (2013). Impact of changes to policy for Mexican risk travel on Canadian blood donor deferrals. Blood transfusion 11 580-584. (Article publié).
  • Potic A, Brais B, Choquet K, Schiffmann R, Bernard G. (2012). 4H syndrome with late-onset growth hormone deficiency caused by POLR3A mutations. Archives of Neurology 69 920-923. (Article publié).
  • Tétreault M, Choquet K, Orcesi S, Tonduti D, Balottin U, Teichmann M, Fribourg S, Schiffmann R, Brais B, Vanderver A, Bernard G. (2011). Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy. American Journal of Human Genetics 89 652-655. (Article publié).

Autres contributions

Présentations

  • (2023). L’ordre d’épissage des pré-ARNm multi-introniques révélé à l’aide du séquençage par nanopores. 90e congrès de l'Acfas. Montreal, Canada
  • Choquet K, Baxter-Koenigs AR, Smalec BM, Churchman LS. (2023). Pre-mRNA splicing order across long multi-intronic transcripts. 31st Conference on Intelligent Systems for Molecular Biology. Lyon, France
  • (2023). Pre-mRNA splicing order across long multi-intronic transcripts. 5th International Caparica Conference in Splicing 2023. Caparica, Portugal
  • Choquet K, Churchman LS. (2022). Pre-mRNA splicing order across long multi-intronic transcripts. Annual Meeting of the RNA Society. États-Unis d'Amérique
  • Choquet K, Churchman LS. (2022). Pre-mRNA splicing order across long multi-intronic transcripts. Systems Biology: Global Regulation of Gene Expression (Cold Spring Harbor Laboratory). États-Unis d'Amérique
  • Choquet K, Koenigs A, Smalec BM, Churchman LS. (2022). Pre-mRNA splicing order across long multi-intronic transcripts. RiboClub Annual Meeting. Canada
  • Choquet K, Drexler HL, Churchman LS. (2019). Splicing kinetics and coordination revealed by direct nascent RNA sequencing through nanopores. Eukaryotic mRNA processing (Cold Spring Harbor Laboratory). Cold Spring Harbor, États-Unis d'Amérique