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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
10
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pubmed:dateCreated |
2003-9-29
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pubmed:databankReference |
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pubmed:abstractText |
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.
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pubmed:grant |
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pubmed:commentsCorrections |
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Oct
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pubmed:issn |
1529-2908
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pubmed:author |
pubmed-author:CatalanNadiaN,
pubmed-author:DurandyAnneA,
pubmed-author:FischerAlainA,
pubmed-author:ForveilleMoniqueM,
pubmed-author:ImaiKohsukeK,
pubmed-author:KavliBodilB,
pubmed-author:KrokanHans EHE,
pubmed-author:LeeWen-IWI,
pubmed-author:NonoyamaShigeakiS,
pubmed-author:OchsHans DHD,
pubmed-author:RevyPatrickP,
pubmed-author:SlupphaugGeirG,
pubmed-author:YelLemanL
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pubmed:issnType |
Print
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pubmed:volume |
4
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1023-8
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pubmed:dateRevised |
2007-11-14
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pubmed:meshHeading |
pubmed-meshheading:12958596-Adult,
pubmed-meshheading:12958596-Amino Acid Sequence,
pubmed-meshheading:12958596-Animals,
pubmed-meshheading:12958596-Base Sequence,
pubmed-meshheading:12958596-Child,
pubmed-meshheading:12958596-Cytidine Deaminase,
pubmed-meshheading:12958596-DNA Glycosylases,
pubmed-meshheading:12958596-Gene Expression Regulation,
pubmed-meshheading:12958596-Humans,
pubmed-meshheading:12958596-Immune Complex Diseases,
pubmed-meshheading:12958596-Immunoglobulin Class Switching,
pubmed-meshheading:12958596-Immunoglobulin M,
pubmed-meshheading:12958596-Mice,
pubmed-meshheading:12958596-Mice, Inbred BALB C,
pubmed-meshheading:12958596-Molecular Sequence Data,
pubmed-meshheading:12958596-N-Glycosyl Hydrolases,
pubmed-meshheading:12958596-Point Mutation,
pubmed-meshheading:12958596-RNA, Messenger,
pubmed-meshheading:12958596-Reverse Transcriptase Polymerase Chain Reaction,
pubmed-meshheading:12958596-Sequence Analysis, DNA,
pubmed-meshheading:12958596-Somatic Hypermutation, Immunoglobulin,
pubmed-meshheading:12958596-Uracil-DNA Glycosidase
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pubmed:year |
2003
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pubmed:articleTitle |
Human uracil-DNA glycosylase deficiency associated with profoundly impaired immunoglobulin class-switch recombination.
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pubmed:affiliation |
Institut National de la Santé et de la Recherche Médicale Unité 429, Hôpital Necker-Enfants Malades, 75015 Paris, France.
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pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.,
Research Support, Non-U.S. Gov't
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