Genome instability consequences of RNase H2 Aicardi-Goutières syndrome alleles
نویسندگان
چکیده
منابع مشابه
[Aicardi-Goutières syndrome].
INTRODUCTION Aicardi-Goutières syndrome (AGS) is an autosomal recessive encephalopathy characterized by acquired microcephaly, cerebral calcifications, leukodystrophy, cerebral atrophy and cerebrospinal fluid findings of chronic lymphocytosis and raised interferon-alpha (INF-alpha). The main extraneurological symptoms are chilblain-like skin lesions, usually on the fingers, toes and ears. SOU...
متن کاملAicardi-Goutières syndrome.
Aicardi-Goutieres syndrome is a familial progressive early onset encephalopathy with basal ganglia calcifications, chronic CSF lymphocytosis and high level of interferon-alpha in CSF. Cutaneous necrotic lesions and the neuropathological aspect of microangiopathy and microinfarctions suggest a vascular process in relation to elevated interferon-alpha. A genetic defect in the regulation of its sy...
متن کاملReduction of hRNase H2 activity in Aicardi–Goutières syndrome cells leads to replication stress and genome instability
Aicardi-Goutières syndrome (AGS) is an inflammatory encephalopathy caused by defective nucleic acids metabolism. Over 50% of AGS mutations affect RNase H2 the only enzyme able to remove single ribonucleotide-monophosphates (rNMPs) embedded in DNA. Ribonucleotide triphosphates (rNTPs) are incorporated into genomic DNA with relatively high frequency during normal replication making DNA more susce...
متن کاملInterferon and Aicardi-Goutières syndrome.
There are two types of interferon (IFN), as you know already, and the interferon which we are interested in for this syndrome is type 1 IFN, specifically the alpha type. Interferons are proteins produced by the host in response to viral infection. Interferon alpha and beta(type I) are not normally detected in blood of healthy people, but they are found mostly in different specimens of patients ...
متن کاملAltered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutières syndrome.
Ribonuclease H2 plays an essential role for genome stability as it removes ribonucleotides misincorporated into genomic DNA by replicative polymerases and resolves RNA/DNA hybrids. Biallelic mutations in the genes encoding the three RNase H2 subunits cause Aicardi-Goutières syndrome (AGS), an early-onset inflammatory encephalopathy that phenotypically overlaps with the autoimmune disorder syste...
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ژورنال
عنوان ژورنال: DNA Repair
سال: 2019
ISSN: 1568-7864
DOI: 10.1016/j.dnarep.2019.04.002