BEGIN:VCALENDAR VERSION:2.0 PRODID:-//132.216.98.100//NONSGML kigkonsult.se iCalcreator 2.20.4// BEGIN:VEVENT UID:20251221T101113EST-1636Ss9aCc@132.216.98.100 DTSTAMP:20251221T151113Z DESCRIPTION:\n 'Human RTEL1 and genome maintenance: Telomeres or centromeres ? Most certainly both.'\n\n\n Regulator of Telomere ELongation helicase 1 i s absolutely required for the maintenance of long telomeres and for genome replication in the mouse. In humans\, mutations in the gene are associate d with a severe form of Dyskeratosis Congenita\, the Hoyeraal-Hreidarsson Syndrome (HHS). HHS patients with mutations in RTEL1 have short telomeres and genome instability\, display developmental abnormalities affecting the central nervous system and usually die from bone marrow failure and immun odeficiency. We have recently shown that RTEL1 plays unanticipated roles i n RiboNucleoprotein trafficking\, thus potentially broadening the underlyi ng bases of the disease. I will present unpublished data regarding the rol e of human RTEL1 at telomeres as well as its role in the correct functioni ng of the mitotic apparatus. The implications for HHS will be discussed.\n \nSEMINAR POSTER\n\nwww.mcgill.ca/anatomy/seminars\n\n \n DTSTART:20171213T163000Z DTEND:20171213T173000Z LOCATION:room 2/36\, Strathcona Anatomy and Dentistry Building\, CA\, QC\, Montreal\, H3A 0C7\, 3640 rue University SUMMARY:Seminar - Arturo Londono (Curie Institute) - 'Human RTEL1 and genom e maintenance: Telomeres or centromeres? Most certainly both' URL:/anatomy/channels/event/seminar-arturo-londono-cur ie-institute-human-rtel1-and-genome-maintenance-telomeres-or-centromeres-2 83073 END:VEVENT END:VCALENDAR