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

Uracil-DNA glycosylase

The UNG gene encodes a glycosylase which is involved in DNA repair. Mutations cause autosomal recessive Hyper-IgM syndrome 5.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25 days
Specimen type genomic DNA

Related Diseases:

Hyper-IgM syndrome 5
UNG

References:

1.

Aasland R et al. (1990) Chromosomal assignment of human uracil-DNA glycosylase to chromosome 12.

external link
2.

Studebaker AW et al. (2005) Depletion of uracil-DNA glycosylase activity is associated with decreased cell proliferation.

external link
3.

Kavli B et al. (2005) B cells from hyper-IgM patients carrying UNG mutations lack ability to remove uracil from ssDNA and have elevated genomic uracil.

external link
4.

Begum NA et al. (2004) Uracil DNA glycosylase activity is dispensable for immunoglobulin class switch.

external link
5.

Elder RT et al. (2003) A fission yeast homologue of the human uracil-DNA-glycosylase and their roles in causing DNA damage after overexpression.

external link
6.

Caradonna S et al. (2001) The nature of enzymes involved in uracil-DNA repair: isoform characteristics of proteins responsible for nuclear and mitochondrial genomic integrity.

external link
7.

Kavli B et al. (2002) hUNG2 is the major repair enzyme for removal of uracil from U:A matches, U:G mismatches, and U in single-stranded DNA, with hSMUG1 as a broad specificity backup.

external link
8.

Dinner AR et al. (2001) Uracil-DNA glycosylase acts by substrate autocatalysis.

external link
9.

Nilsen H et al. (2000) Uracil-DNA glycosylase (UNG)-deficient mice reveal a primary role of the enzyme during DNA replication.

external link
10.

Haug T et al. (1998) Regulation of expression of nuclear and mitochondrial forms of human uracil-DNA glycosylase.

external link
11.

Haug T et al. (1996) Human uracil-DNA glycosylase gene: sequence organization, methylation pattern, and mapping to chromosome 12q23-q24.1.

external link
12.

Caradonna S et al. (1996) Affinity purification and comparative analysis of two distinct human uracil-DNA glycosylases.

external link
13.

Haug T et al. (1994) Structure of the gene for human uracil-DNA glycosylase and analysis of the promoter function.

external link
14.

Vollberg TM et al. (1989) Isolation and characterization of the human uracil DNA glycosylase gene.

external link
15.

Olsen LC et al. (1989) Molecular cloning of human uracil-DNA glycosylase, a highly conserved DNA repair enzyme.

external link
16.

Imai K et al. (2003) Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination.

external link
17.

NCBI article

NCBI 7374 external link
18.

OMIM.ORG article

Omim 191525 external link
19.

Orphanet article

Orphanet ID 120421 external link
20.

Wikipedia article

Wikipedia EN (Uracil-DNA_glycosylase) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues