Uracil-N-Glycosylase
Das UNG-Gen kodiert eine N-Glycosylase, die bei der DNA-Reparatur von spntanen Punktmutationen beteiligt ist. Mutationen führen zum autosomal rezessiven Hyper-IgM-Syndrom 5 und zu einem vermehrten Auftreten von Mutationen in der mitochondrialen DNA.
Genstruktur
Das Gen besitzt zwei verschiedene Promotoren und Spleiß-Varianten jeweils für den Zellkern und das Mitochondrium. Diese beiden Varianten werden UNG2 und UNG1 genann. UNG1 trägt eine spezielle Sequenz, die den Transport in das Mitochondrium ermöglicht.
Gentests:
Klinisch |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
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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Update: 14. August 2020