RGD Reference Report - Identification and functional analysis of CBLB mutations in type 1 diabetes. - Rat Genome Database

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Identification and functional analysis of CBLB mutations in type 1 diabetes.

Authors: Yokoi, N  Fujiwara, Y  Wang, HY  Kitao, M  Hayashi, C  Someya, T  Kanamori, M  Oiso, Y  Tajima, N  Yamada, Y  Seino, Y  Ikegami, H  Seino, S 
Citation: Yokoi N, etal., Biochem Biophys Res Commun. 2008 Mar 28;368(1):37-42. Epub 2008 Jan 15.
RGD ID: 2314037
Pubmed: PMID:18201552   (View Abstract at PubMed)
DOI: DOI:10.1016/j.bbrc.2008.01.032   (Journal Full-text)

Casitas B-lineage lymphoma b (Cblb) is a negative regulator of T-cell activation and dysfunction of Cblb in rats and mice results in autoimmunity. In particular, a nonsense mutation in Cblb has been identified in a rat model of autoimmune type 1 diabetes. To clarify the possible involvement of CBLB mutation in type 1 diabetes in humans, we performed mutation screening of CBLB and characterized functional properties of the mutations in Japanese subjects. Six missense mutations (A155V, F328L, N466D, K837R, T882A, and R968L) were identified in one diabetic subject each, excepting N466D. Of these mutations, F328L showed impaired suppression of T-cell activation and was a loss-of-function mutation. These data suggest that the F328L mutation is involved in the development of autoimmune diseases including type 1 diabetes, and also provide insight into the structure-function relationship of CBLB protein.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
CBLBHumantype 1 diabetes mellitus  IAGP DNA:missense mutations: :multiple (human)RGD 
CblbRattype 1 diabetes mellitus  ISOCBLB (Homo sapiens)DNA:missense mutations: :multiple (human)RGD 
CblbMousetype 1 diabetes mellitus  ISOCBLB (Homo sapiens)DNA:missense mutations: :multiple (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Cblb  (Cbl proto-oncogene B)

Genes (Mus musculus)
Cblb  (Casitas B-lineage lymphoma b)

Genes (Homo sapiens)
CBLB  (Cbl proto-oncogene B)


Additional Information