Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Single-stranded DNA cytosine deaminase

The AICDA gene encodes a protein responsible for somatic hypermutation a key process in B lymphocyte maturation. Mutations cause autosomal recessive hyper-IgM syndrome 2.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Hyper-IgM syndrome 2
AICDA

References:

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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Update: Sept. 26, 2018