Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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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7.

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

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8.

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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9.

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

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10.

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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11.

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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12.

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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13.

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

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14.

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

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15.

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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16.

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

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Update: Sept. 26, 2018