Regulator of telomere elongation helicase 1

Definition:

ATP-dependent DNA helicase implicated in telomere-length regulation, DNA repair and the maintenance of genomic stability. Acts as an anti-recombinase to counteract toxic recombination and limit crossover during meiosis. Regulates meiotic recombination and crossover homeostasis by physically dissociating strand invasion events and thereby promotes noncrossover repair by meiotic synthesis dependent strand annealing (SDSA) as well as disassembly of D loop recombination intermediates. Also disassembles T loops and prevents telomere fragility by counteracting telomeric G4-DNA structures, which together ensure the dynamics and stability of the telomere.

References:

[1]. Louise J Barber, et al. RTEL1 maintains genomic stability by suppressing homologous recombination. Cell. 2008 Oct 17;135(2):261-71. [Content Brief]

[2]. Amanda J Walne, et al. Constitutional mutations in RTEL1 cause severe dyskeratosis congenita. Am J Hum Genet. 2013 Mar 7;92(3):448-53. [Content Brief]

[3]. Bari J Ballew, et al. A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome. PLoS Genet. 2013 Aug;9(8):e1003695. [Content Brief]

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