Article
Loss of ZBTB24 impairs nonhomologous end-joining and class-switch recombination in patients with ICF syndrome.
The Journal of experimental medicine - 2 Nov 2020
Helfricht Angela, Thijssen Peter E, Rother Magdalena B, Shah Rashmi G, Du Likun, Takada Sanami, Rogier Mélanie, Moritz Jacques, IJspeert Hanna, Stoepker Chantal, van Ostaijen-Ten Dam Monique M, Heyer Vincent, Luijsterburg Martijn S, de Groot Anton, Jak Rianca, Grootaers Gwendolynn, Wang Jun, Rao Pooja, Vertegaal Alfred C O, van Tol Maarten J D, Pan-Hammarström Qiang, Reina-San-Martin Bernardo, Shah Girish M, van der Burg Mirjam, van der Maarel Silvère M, van Attikum Haico
Abstract excerpt
The autosomal recessive immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a genetically heterogeneous disorder. Despite the identification of the underlying gene defects, it is unclear how mutations in any of the four known ICF genes cause a primary immunodeficiency. Here we demonstrate that loss of ZBTB24 in B cells from mice and ICF2 patients affects nonhomologous end-joining...
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