RGD Reference Report - Targeted disruption of the beta adducin gene (Add2) causes red blood cell spherocytosis in mice. - Rat Genome Database

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Targeted disruption of the beta adducin gene (Add2) causes red blood cell spherocytosis in mice.

Authors: Gilligan, DM  Lozovatsky, L  Gwynn, B  Brugnara, C  Mohandas, N  Peters, LL 
Citation: Gilligan DM, etal., Proc Natl Acad Sci U S A 1999 Sep 14;96(19):10717-22.
RGD ID: 1300258
Pubmed: PMID:10485892   (View Abstract at PubMed)
PMCID: PMC17949   (View Article at PubMed Central)

Adducins are a family of cytoskeleton proteins encoded by three genes (alpha, beta, gamma). In a comprehensive assay of gene expression, we show the ubiquitous expression of alpha- and gamma-adducins in contrast to the restricted expression of beta-adducin. beta-adducin is expressed at high levels in brain and hematopoietic tissues (bone marrow in humans, spleen in mice). To elucidate adducin's role in vivo, we created beta-adducin null mice by gene targeting, deleting exons 9-13. A 55-kDa chimeric polypeptide is produced from the first eight exons of beta-adducin and part of the neo cassette in spleen but is not detected in peripheral RBCs or brain. beta-adducin null RBCs are osmotically fragile, spherocytic, and dehydrated compared with the wild type, resembling RBCs from patients with hereditary spherocytosis. The lack of beta-adducin in RBCs leads to decreased membrane incorporation of alpha-adducin (30% of normal) and unexpectedly promotes a 5-fold increase in gamma-adducin incorporation into the RBC membrane skeleton. This study demonstrates adducin's importance to RBC membrane stability in vivo.



Objects referenced in this article
Gene ADD3 adducin 3 Homo sapiens
Gene Add1 adducin 1 Mus musculus
Gene Add2 adducin 2 Mus musculus
Gene Add3 adducin 3 Mus musculus
Gene Add3 adducin 3 Rattus norvegicus

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