A human inborn error connects the α's

I Meyts, JL Casanova - Nature immunology, 2016 - nature.com
Nature immunology, 2016nature.com
Patients with XLPDR are found to carry an intronic hypomorphic mutation in the gene
encoding the catalytic subunit of DNA polymerase-α. Patients' cells display low levels of
cytoplasmic RNA: DNA hybrids, which increases the expression of interferon-α-induced
genes, a hallmark of monogenic'type I interferonopathies'.
Patients with XLPDR are found to carry an intronic hypomorphic mutation in the gene encoding the catalytic subunit of DNA polymerase-α. Patients' cells display low levels of cytoplasmic RNA:DNA hybrids, which increases the expression of interferon-α-induced genes, a hallmark of monogenic 'type I interferonopathies'.
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