Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Uracil-DNA-Glycosylase

Das UNG-Gen kodiert eine Glycosylase, die bei der DNA-Reparatur von Spontanmutationen beteiligt ist. Mutationen führen zum autosomal rezessiven Hyper-IgM-Syndrom 5.

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

Hyper-IgM-Syndrom 5
UNG

Referenzen:

1.

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

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2.

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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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8.

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

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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.

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

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11.

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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12.

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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13.

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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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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17.

NCBI article

NCBI 7374 [^]
18.

OMIM.ORG article

Omim 191525 [^]
19.

Orphanet article

Orphanet ID 120421 [^]
Update: 29. April 2019