Ribonuclease H2 Untereinheit A
Das RNASEH2A-Gen kodiert eine Untereinheit eines Enzyms, welches spezielle Ribonukleotide spaltet. Mutationen sind für das autosomal rezessive Aicardi-Goutières-Syndrom 4 verantwortlich.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Frank P et al. (1998) Cloning of the cDNA encoding the large subunit of human RNase HI, a homologue of the prokaryotic RNase HII.
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2. |
Sanchis A et al. (2005) Genetic syndromes mimic congenital infections.
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3. |
Crow YJ et al. (2006) Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
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4. |
Rice G et al. (2007) Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
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5. |
Coffin SR et al. (2011) Functional consequences of the RNase H2A subunit mutations that cause Aicardi-Goutieres syndrome.
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6. |
Kim N et al. (2011) Mutagenic processing of ribonucleotides in DNA by yeast topoisomerase I.
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7. |
Rice GI et al. (2013) Synonymous mutations in RNASEH2A create cryptic splice sites impairing RNase H2 enzyme function in Aicardi-Goutières syndrome.
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8. |
Kind B et al. (2014) Altered spatio-temporal dynamics of RNase H2 complex assembly at replication and repair sites in Aicardi-Goutières syndrome.
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9. |
Pokatayev V et al. (2016) RNase H2 catalytic core Aicardi-Goutières syndrome-related mutant invokes cGAS-STING innate immune-sensing pathway in mice.
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10. |
Zimmermann M et al. (2018) CRISPR screens identify genomic ribonucleotides as a source of PARP-trapping lesions.
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Update: 14. August 2020