Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Research Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

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

Referenzen:

1.

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

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2.

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

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3.

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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4.

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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5.

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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6.

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

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7.

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

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8.

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

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9.

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

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10.

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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11.

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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12.

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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13.

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

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14.

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

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15.

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

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