Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Einzelstrang-DNA Cytosin-Deaminase

Das AICDA-Gen kodiert ein protein, welches für die somatische Hypermutation verantwortlich ist. Da dies ein wichtiger Prozess in der Reifung der B-Lymphozyten darstellt, kommt es bei Mutationen zum autosomal rezessivem Hyper-IgM-Syndrom 2.

Diagnostik:

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

Krankheiten:

Hyper-IgM-Syndrom 2
AICDA

Referenzen:

1.

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

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2.

Prochnow C et. al. (2007) The APOBEC-2 crystal structure and functional implications for the deaminase AID.

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3.

Muramatsu M et. al. (1999) Specific expression of activation-induced cytidine deaminase (AID), a novel member of the RNA-editing deaminase family in germinal center B cells.

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4.

Muto T et. al. (2000) Isolation, tissue distribution, and chromosomal localization of the human activation-induced cytidine deaminase (AID) gene.

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5.

Muramatsu M et. al. (2000) Class switch recombination and hypermutation require activation-induced cytidine deaminase (AID), a potential RNA editing enzyme.

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6.

Revy P et. al. (2000) Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2).

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7.

Fagarasan S et. al. (2001) In situ class switching and differentiation to IgA-producing cells in the gut lamina propria.

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8.

Petersen S et. al. (2001) AID is required to initiate Nbs1/gamma-H2AX focus formation and mutations at sites of class switching.

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9.

Arakawa H et. al. (2002) Requirement of the activation-induced deaminase (AID) gene for immunoglobulin gene conversion.

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10.

Okazaki IM et. al. (2002) The AID enzyme induces class switch recombination in fibroblasts.

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11.

Yoshikawa K et. al. (2002) AID enzyme-induced hypermutation in an actively transcribed gene in fibroblasts.

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12.

Petersen-Mahrt SK et. al. (2002) AID mutates E. coli suggesting a DNA deamination mechanism for antibody diversification.

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13.

Fagarasan S et. al. (2002) Critical roles of activation-induced cytidine deaminase in the homeostasis of gut flora.

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14.

Chaudhuri J et. al. (2003) Transcription-targeted DNA deamination by the AID antibody diversification enzyme.

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15.

Pham P et. al. (2003) Processive AID-catalysed cytosine deamination on single-stranded DNA simulates somatic hypermutation.

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16.

Ta VT et. al. (2003) AID mutant analyses indicate requirement for class-switch-specific cofactors.

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17.

Nambu Y et. al. (2003) Transcription-coupled events associating with immunoglobulin switch region chromatin.

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18.

Chaudhuri J et. al. (2004) Replication protein A interacts with AID to promote deamination of somatic hypermutation targets.

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19.

Ramiro AR et. al. (2004) AID is required for c-myc/IgH chromosome translocations in vivo.

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20.

Basu U et. al. (2005) The AID antibody diversification enzyme is regulated by protein kinase A phosphorylation.

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21.

Ramiro AR et. al. (2006) Role of genomic instability and p53 in AID-induced c-myc-Igh translocations.

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22.

Durandy A et. al. (2006) Activation-induced cytidine deaminase: structure-function relationship as based on the study of mutants.

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23.

Zarrin AA et. al. (2007) Antibody class switching mediated by yeast endonuclease-generated DNA breaks.

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24.

Matsumoto Y et. al. (2007) Helicobacter pylori infection triggers aberrant expression of activation-induced cytidine deaminase in gastric epithelium.

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25.

Pasqualucci L et. al. (2008) AID is required for germinal center-derived lymphomagenesis.

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26.

Liu M et. al. (2008) Two levels of protection for the B cell genome during somatic hypermutation.

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27.

Bhutani N et. al. (2010) Reprogramming towards pluripotency requires AID-dependent DNA demethylation.

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28.

Popp C et. al. (2010) Genome-wide erasure of DNA methylation in mouse primordial germ cells is affected by AID deficiency.

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29.

Péron S et. al. (2012) AID-driven deletion causes immunoglobulin heavy chain locus suicide recombination in B cells.

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30.

Kumar R et. al. (2013) AID stabilizes stem-cell phenotype by removing epigenetic memory of pluripotency genes.

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31.

Pefanis E et. al. (2014) Noncoding RNA transcription targets AID to divergently transcribed loci in B cells.

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