BRCT-domain protein BRIT1 influences class switch recombination

BRCT-domain protein BRIT1 influences class switch recombination.

DNA double-strand breaks (DSBs) serve as obligatory intermediates for Ig heavy chain (Igh) class switch recombination (CSR). The mechanisms by which DSBs are resolved to promote long-range DNA end-joining while suppressing genomic instability inherently associated with DSBs are yet to be fully elucidated. Here, we use a targeted short-hairpin RNA screen in a B-cell lymphoma line to identify the...

Interallelic Class Switch Recombination

Immunoglobulin class-switch recombination deficiencies

Immunoglobulin class-switch recombination deficiencies (Ig-CSR-Ds) are rare primary immunodeficiencies characterized by defective switched isotype (IgG/IgA/IgE) production. Depending on the molecular defect in question, the Ig-CSR-D may be combined with an impairment in somatic hypermutation (SHM). Some of the mechanisms underlying Ig-CSR and SHM have been described by studying natural mutants ...

onychomadesis in a patient with immunoglobulin class switch recombination deficiency

immunoglobulin class switch recombination deficiencies (ig csr deficiencies) or hyper igm syndromes (higm) are a group of primary immunodeficiency diseases, characterized by defective cd40 signaling of b cells resulting into a csr and a somatic hypermutation. the affected patients are characterized with reduced serum levels of igg and iga, and normal or elevated level of igm, which lead to incr...

Fixing DNA breaks during class switch recombination

Immunoglobulin (Ig) class switch recombination (CSR) involves the breakage and subsequent repair of two DNA sequences, known as switch (S) regions, which flank IgH constant region exons. The resolution of CSR-associated breaks is thought to require the nonhomologous end-joining (NHEJ) DNA repair pathway, but the role of the NHEJ factor DNA-dependent protein kinase catalytic subunit (DNA-PKcs) i...