Abstract:
:In successive reports from 2014 to 2015, X-ray repair cross-complementing protein 4 (XRCC4) has been identified as a novel causative gene of primordial dwarfism. XRCC4 is indispensable for non-homologous end joining (NHEJ), the major pathway for repairing DNA double-strand breaks. As NHEJ is essential for V(D)J recombination during lymphocyte development, it is generally believed that abnormalities in XRCC4 cause severe combined immunodeficiency. Contrary to expectations, however, no overt immunodeficiency has been observed in patients with primordial dwarfism harboring XRCC4 mutations. Here, we describe the various XRCC4 mutations that lead to disease and discuss their impact on NHEJ and V(D)J recombination.
journal_name
J Hum Genetjournal_title
Journal of human geneticsauthors
Saito S,Kurosawa A,Adachi Ndoi
10.1038/jhg.2016.46subject
Has Abstractpub_date
2016-08-01 00:00:00pages
679-85issue
8eissn
1434-5161issn
1435-232Xpii
jhg201646journal_volume
61pub_type
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