JESSICA INFANTE

PhD Student

PhD program:: XXXV
email: infante.jessica89@gmail.com
phone: 3277814738

supervisor: Clara Nervi

Research: The role of 3’UTR region of CALR in hematopoiesis and pathogenesis of myeloproliferative neoplasms

The role of 3’UTR region of CALR in hematopoiesis and pathogenesis of myeloproliferative neoplasms

We recently showed that two patients with erythrocytosis and Polycythemia Vera diagnosis presented a novel CALR mutation within
3’UTR (c.1254+10_+33del24 – CALR del24). This mutation is located within a conserved 3’UTR region and, in vitro, induced CALR
protein overexpression, JAK/STAT activation and erytrhocytosis. Is reported that such CALR 3’UTR region is targeted by m6A, an
epitranscriptomic modification generated by a methylase complex, which catalytic subunit is METTL3. In in vitro CD34+ cord blood
unilineage culture we observed that METTL3 and CALR mRNA expression are related, decreasing along erythroid and granulocytic
differentiation, while METTL3 protein seems completely suppressed in granulopoiesis. By RNA-immunoprecipitation (RIP) and
methylated (m6A) RNA immunoprecipitation in K562, we confirmed that CALR 3’UTR is bound by METTL3 and enriched in m6A. We
are currently investigating if m6A-dependent processes, such mRNA stability and translation efficiency, might be altered by CALR
del24. By studying m6A modification of CALR 3’UTR and the related processes, such miRNA binding, we aim to discover a novel
regulative mechanism in myelopoiesis and MPNs.

Research products

11573/1638827 - 2020 - Conversion of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 to manifest ataxia (RISCA): a longitudinal cohort study

Jacobi, H.; Du Montcel, S. T.; Romanzetti, S.; Harmuth, F.; Mariotti, C.; Nanetti, L.; Rakowicz, M.; Makowicz, G.; Durr, A.; Monin, M. -L.; Filla, A.; Roca, A.; Schols, L.; Hengel, H.; Infante, J.; Kang, J. -S.; Timmann, D.; Casali, C.; Masciullo, M.; Baliko, L.; Melegh, B.; Nachbauer, W.; Burk-Gergs, K.; Schulz, J. B.; Riess, O.; Reetz, K.; Klockgether, T. - 01a Articolo in rivista

paper: LANCET NEUROLOGY (Lancet Publishing Group) pp. 738-747 - issn: 1474-4422 - wos: WOS:000562556500016 (34) - scopus: 2-s2.0-85089552495 (36)

11573/1450493 - 2020 - MicroRNA Deregulation in Blood Serum Identifies Multiple System Atrophy Altered Pathways

Perez-Soriano, A.; Bravo, P.; Soto, M.; Infante, J.; Fernandez, M.; Valldeoriola, F.; Munoz, E.; Compta, Y.; Tolosa, E.; Garrido, A.; Ezquerra, M.; Fernandez-Santiago, R.; Marti, M. -J. - 01a Articolo in rivista

paper: MOVEMENT DISORDERS (-WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, USA, NJ, 07030 -Lippincott, Williams & Wilkins:530 Walnut Street:Philadelphia, PA 19106:(800)638-3030, (301)223-2300, EMAIL: orders@lww.com, INTERNET: http://www.lww.com, Fax: (301)223-2320, (301)223-2320) pp. 1873-1879-1879 - issn: 0885-3185 - wos: WOS:000550510700001 (13) - scopus: 2-s2.0-85088162173 (14)

11573/1417435 - 2019 - Uridine cytidine kinase 2 as a potential biomarker for treatment with RX-3117 in pancreatic cancer*

Hassouni, B. E. L.; Infante, J.; Mantini, G.; Ricci, C.; Funel, N.; Giovannetti, E.; Peters, G. J. - 01a Articolo in rivista

paper: ANTICANCER RESEARCH (Kapandriti: International Institute of Anticancer Research, 1995 Earliest publisher: Καπανδρίτι: Ιωάννης Γ. Δεληνάσιος, 1981-1995 Kapandriti: Iōannīs G. Delīnasios, 1981-1995) pp. 3609-3614 - issn: 0250-7005 - wos: WOS:000482700300038 (7) - scopus: 2-s2.0-85068263497 (6)