title: [RTEL1 (regulator of telomere elongation helicase 1), a DNA helicase essential for genome stability].
abstract: RTEL1 (regulator of telomere length helicase 1) is a DNA helicase that has been identified more than 10 years ago. Many works since, mainly in the nematode Caenorhabditis elegans and the mouse, have highlighted its role in chromosomal stability, maintenance of telomere length, and DNA repair. Recently, four laboratories have characterized RTEL1 mutations in patients with dyskeratosis congenita (DC) and Hoyeraal-Hreidarsson (HH) syndrome, a rare and severe variant of DC. We here summarize the current knowledge on RTEL1 and discuss the possible other functions that RTEL1 could play.
authors.affiliation: Dynamique du génome et système immunitaire, Institut Imagine, 149, rue de Sèvres, 75015 Paris, France - Inserm U768, université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 149, rue de Sèvres, 75015 Paris, France.
authors.forename: Tangui
authors.initials: T
authors.lastname: Le Guen
authors.affiliation: Dynamique du génome et système immunitaire, Institut Imagine, 149, rue de Sèvres, 75015 Paris, France - Inserm U768, université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 149, rue de Sèvres, 75015 Paris, France.
authors.forename: Laurent
authors.initials: L
authors.lastname: Jullien
authors.affiliation: Télomère et cancer, Institut Curie, UMR3244, 26 Rue d'Ulm, 75005 Paris, France.
authors.forename: Mike
authors.initials: M
authors.lastname: Schertzer
authors.affiliation: Dynamique du génome et système immunitaire, Institut Imagine, 149, rue de Sèvres, 75015 Paris, France - Inserm U768, université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 149, rue de Sèvres, 75015 Paris, France.
authors.forename: Axelle
authors.initials: A
authors.lastname: Lefebvre
authors.affiliation: Dynamique du génome et système immunitaire, Institut Imagine, 149, rue de Sèvres, 75015 Paris, France - Inserm U768, université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 149, rue de Sèvres, 75015 Paris, France.
authors.forename: Laetitia
authors.initials: L
authors.lastname: Kermasson
authors.affiliation: Dynamique du génome et système immunitaire, Institut Imagine, 149, rue de Sèvres, 75015 Paris, France - Inserm U768, université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 149, rue de Sèvres, 75015 Paris, France - Hôpital Necker-Enfants malades, AP-HP, service d'immunologie et d'hématologie pédiatriques, 149, rue de Sèvres, 75015 Paris, France.
authors.forename: Jean-Pierre
authors.initials: JP
authors.lastname: de Villartay
authors.affiliation: Télomère et cancer, Institut Curie, UMR3244, 26 Rue d'Ulm, 75005 Paris, France.
authors.forename: Arturo
authors.initials: A
authors.lastname: Londoño-Vallejo
authors.affiliation: Dynamique du génome et système immunitaire, Institut Imagine, 149, rue de Sèvres, 75015 Paris, France - Inserm U768, université Paris Descartes, Sorbonne Paris Cité, Institut Imagine, 149, rue de Sèvres, 75015 Paris, France.
authors.forename: Patrick
authors.initials: P
authors.lastname: Revy
mesh_terms: D000818:Animals; D004265:DNA Helicases / Q000235:genetics / Q000502:physiology*; D004260:DNA Repair; D019871:Dyskeratosis Congenita / Q000235:genetics; D005317:Fetal Growth Retardation / Q000235:genetics; D055614:Genetic Phenomena / Q000235:genetics / Q000502:physiology; D042822:Genomic Instability / Q000235:genetics / Q000502:physiology*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D051379:Mice; D008831:Microcephaly / Q000235:genetics; D009154:Mutation; D016615:Telomere / Q000502:physiology
chemical_list: C532890:RTEL1 protein, human; D004265:DNA Helicases