Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The UNG gene encodes a glycosylase which is involved in DNA repair. Mutations cause autosomal recessive Hyper-IgM syndrome 5.
| 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 |
| 1. |
Aasland R et al. (1990) Chromosomal assignment of human uracil-DNA glycosylase to chromosome 12. 
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| 2. |
Studebaker AW et al. (2005) Depletion of uracil-DNA glycosylase activity is associated with decreased cell proliferation.
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| 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.
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| 4. |
Begum NA et al. (2004) Uracil DNA glycosylase activity is dispensable for immunoglobulin class switch.
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| 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.
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| 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.
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| 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.
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| 8. |
Dinner AR et al. (2001) Uracil-DNA glycosylase acts by substrate autocatalysis.
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| 9. |
Nilsen H et al. (2000) Uracil-DNA glycosylase (UNG)-deficient mice reveal a primary role of the enzyme during DNA replication.
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| 10. |
Haug T et al. (1998) Regulation of expression of nuclear and mitochondrial forms of human uracil-DNA glycosylase.
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| 11. |
Haug T et al. (1996) Human uracil-DNA glycosylase gene: sequence organization, methylation pattern, and mapping to chromosome 12q23-q24.1.
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| 12. |
Caradonna S et al. (1996) Affinity purification and comparative analysis of two distinct human uracil-DNA glycosylases.
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| 13. |
Haug T et al. (1994) Structure of the gene for human uracil-DNA glycosylase and analysis of the promoter function.
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| 14. |
Vollberg TM et al. (1989) Isolation and characterization of the human uracil DNA glycosylase gene.
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| 15. |
Olsen LC et al. (1989) Molecular cloning of human uracil-DNA glycosylase, a highly conserved DNA repair enzyme.
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| 16. |
Imai K et al. (2003) Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination.
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| 17. |
NCBI article NCBI 7374
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| 18. |
OMIM.ORG article Omim 191525
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| 19. |
Orphanet article Orphanet ID 120421
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| 20. |
Wikipedia article Wikipedia EN (Uracil-DNA_glycosylase)
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