Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Ribonuclease H2 subunit A

The RNASEH2A gene encodes a subunit of an emzyme that cleaves specific nucleotides. Mutations cause autosomal recessive Aicardi-Goutieres syndrome 4.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA
Research Method Multiplex Ligation-Dependent Probe Amplification
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Aicardi-Goutieres syndrome 4
RNASEH2A

References:

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: Aug. 14, 2020
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