Nibrin

Nibrin

Nibrin is a protein encoded by the NBN gene that consists of 754 amino acids. It plays a crucial role in maintaining telomere length and chromosome integrity, as well as controlling the intra-S-phase checkpoint. Additionally, nibrin is involved in repairing double-strand DNA breaks.From: Chromosomal Instability and Aging [2019], Handbook of Tumor Syndromes [2020], A case of premature ovarian insufficiency in Nijmegen breakage syndrome patient and review of literature. From gene mutation to clinical management [2019]

Nijmegen Breakage Syndrome

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Published in Dongyou Liu, Handbook of Tumor Syndromes, 2020

Dongyou Liu

Homozygous or compound heterozygous mutations in NBN exons 6–10 produce truncation in the nibrin protein that lacks a C-terminal protein fragment (p70). The inability of this altered protein to undertake translational re-initiation appears to underlie the development to NBS. Specifically, absence or mutation of nibrin disrupts the ATM interaction site, impairs G2 checkpoint control, allows continued DNA synthesis in the presence of DSB (so-called radioresistant DNA synthesis [RDS]), and causes severe apoptotic defect. Besides frequent chromosome aberrations at the sites of T cell receptor (TCR), NBS is also associated with immunoglobulin heavy-chain (IgH) rearrangement, where V(D)J recombination spontaneously induces DSB, leading to B cell lymphomas [10–13].

A case of premature ovarian insufficiency in Nijmegen breakage syndrome patient and review of literature. From gene mutation to clinical management

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Published in Gynecological Endocrinology, 2019

Anna Szeliga, Aleksandra Zysnarska, Zuzanna Szklarska, Ewelina Truszkowska, Agnieszka Podfigurna, Adam Czyzyk, Andrea R. Genazzani, Krystyna Chrzanowska, Blazej Meczekalski

Nijmegen breakage syndrome (NBS) is an autosomal recessive disorder resulting from mutations in the NBN gene (8q21-q24). It most frequently occurs among Slavic populations due to the founder effect (1:177 newborns) [1]. However, it took its name from a Dutch city where the first known case was described [2]. The aforementioned NBN gene encodes nibrin, a protein involved in the repair of double-strand DNA breaks. The defective structure of nibrin, which leads to chromosomal instability, was found to be one of the underlying causes of frequent malignancies in NBS patients [3].

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Nijmegen Breakage Syndrome

A case of premature ovarian insufficiency in Nijmegen breakage syndrome patient and review of literature. From gene mutation to clinical management