Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Enzym APOBEC-1

Das vom APOBEC1-Gen kodierte Enzym gehört in die APOBEC-Familie von Enzymen, welche die mRNA nach der Transkription und vor der Translation verändern indem Basenaustausche vorgenommen werden. Diese Enzyme besitzen eine wichtige Funktion in der Abwehr von Virusinfektionen und im Fettstoffwechsel.

Gentests:

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

Verknüpfte Erkrankungen:

Störungen der mRNA-Editiertfunktion
APOBEC1
APOBEC2
APOBEC3A
APOBEC3B
APOBEC3C
APOBEC3D
APOBEC3F
APOBEC3G
APOBEC3H
APOBEC4

Referenzen:

1.

Yamanaka S et al. (1995) Apolipoprotein B mRNA-editing protein induces hepatocellular carcinoma and dysplasia in transgenic animals.

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2.

Roberts SA et al. (2013) An APOBEC cytidine deaminase mutagenesis pattern is widespread in human cancers.

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3.

Guo JU et al. (2011) Hydroxylation of 5-methylcytosine by TET1 promotes active DNA demethylation in the adult brain.

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4.

Harris RS et al. (2002) RNA editing enzyme APOBEC1 and some of its homologs can act as DNA mutators.

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5.

Mukhopadhyay D et al. (2002) C-->U editing of neurofibromatosis 1 mRNA occurs in tumors that express both the type II transcript and apobec-1, the catalytic subunit of the apolipoprotein B mRNA-editing enzyme.

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6.

Hirano K et al. (1997) Characterization of the human apobec-1 gene: expression in gastrointestinal tissues determined by alternative splicing with production of a novel truncated peptide.

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7.

Oka K et al. (1997) Tissue-specific inhibition of apolipoprotein B mRNA editing in the liver by adenovirus-mediated transfer of a dominant negative mutant APOBEC-1 leads to increased low density lipoprotein in mice.

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8.

Morrison JR et al. (1996) Apolipoprotein B RNA editing enzyme-deficient mice are viable despite alterations in lipoprotein metabolism.

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9.

None (1993) RNA editing: exploring one mode with apolipoprotein B mRNA.

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10.

Betts L et al. (1994) Cytidine deaminase. The 2.3 A crystal structure of an enzyme: transition-state analog complex.

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11.

Hadjiagapiou C et al. (1994) Molecular cloning of a human small intestinal apolipoprotein B mRNA editing protein.

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12.

Lau PP et al. (1994) Dimeric structure of a human apolipoprotein B mRNA editing protein and cloning and chromosomal localization of its gene.

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13.

Navaratnam N et al. (1995) Evolutionary origins of apoB mRNA editing: catalysis by a cytidine deaminase that has acquired a novel RNA-binding motif at its active site.

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14.

Espinosa R et al. (1994) Assignment of the gene encoding the human apolipoprotein B mRNA editing enzyme (APOBEC1) to chromosome 12p13.1.

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15.

Hodges P et al. (1992) Apolipoprotein B mRNA editing: a new tier for the control of gene expression.

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16.

OMIM.ORG article

Omim 600130 external link
17.

NCBI article

NCBI 339 external link
Update: 14. August 2020
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