RGD Reference Report - Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination. - Rat Genome Database

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Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination.

Authors: Imai, K  Slupphaug, G  Lee, WI  Revy, P  Nonoyama, S  Catalan, N  Yel, L  Forveille, M  Kavli, B  Krokan, HE  Ochs, HD  Fischer, A  Durandy, A 
Citation: Imai K, etal., Nat Immunol. 2003 Oct;4(10):1023-8. Epub 2003 Sep 7.
RGD ID: 1599705
Pubmed: PMID:12958596   (View Abstract at PubMed)
DOI: DOI:10.1038/ni974   (Journal Full-text)

Activation-induced cytidine deaminase (AID) is a 'master molecule' in immunoglobulin (Ig) class-switch recombination (CSR) and somatic hypermutation (SHM) generation, AID deficiencies are associated with hyper-IgM phenotypes in humans and mice. We show here that recessive mutations of the gene encoding uracil-DNA glycosylase (UNG) are associated with profound impairment in CSR at a DNA precleavage step and with a partial disturbance of the SHM pattern in three patients with hyper-IgM syndrome. Together with the finding that nuclear UNG expression was induced in activated B cells, these data support a model of CSR and SHM in which AID deaminates cytosine into uracil in targeted DNA (immunoglobulin switch or variable regions), followed by uracil removal by UNG.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
dysgammaglobulinemia  IAGP 1599705Hyper-IgM syndrome 5 and OMIM:608106RGD 
dysgammaglobulinemia  ISOUNG (Homo sapiens)1599705; 1599705Hyper-IgM syndrome 5 and OMIM:608106RGD 

Objects Annotated

Genes (Rattus norvegicus)
Ung  (uracil-DNA glycosylase)

Genes (Mus musculus)
Ung  (uracil DNA glycosylase)

Genes (Homo sapiens)
UNG  (uracil DNA glycosylase)


Additional Information