Edward Benz Jr., M.D.
President and CEO Emeritus, Dana-Farber Cancer Institute
Richard and Susan Smith Distinguished Professor of Medicine, Professor of Pediatrics, Professor of Genetics, Harvard Medical School
In erythrocytes, Protein 4.1R is essential for membrane integrity. Deficiencies cause congenital hemolytic anemia. We have shown that there are many isoforms of P4.1R in other tissues. These participate in the mitotic apparatus, costameres, tight junctions, and adherens junctions. We are studying the structure function relationships of these isoforms. We also study the regulated pre-mRNA splicing events that govern their tissue and differentiation stage expression. We have identified a novel splicing factor induced during erythropoiesis that is critical to regulated P4.1R splicing and have characterized the mechanism by which it alters splicing.
An erythroid differentiation-specific splicing switch in protein 4.1R mediated by the interaction of SF2/ASF with an exonic splicing enhancer.
Mitotic regulation of protein 4.1R involves phosphorylation by cdc2 kinase.
Authors: Authors: Huang SC, Liu ES, Chan SH, Munagala ID, Cho HT, Jagadeeswaran R, Benz EJ.
Mol Biol Cell
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Mol Biol Cell
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Genotypes and phenotypes--another lesson from the hemoglobinopathies.
Protein 4.1R, a microtubule-associated protein involved in microtubule aster assembly in mammalian mitotic extract.
Authors: Authors: Huang SC, Jagadeeswaran R, Liu ES, Benz EJ.
J Biol Chem
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J Biol Chem
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A splicing alteration of 4.1R pre-mRNA generates 2 protein isoforms with distinct assembly to spindle poles in mitotic cells.
Authors: Authors: Delhommeau F, Vasseur-Godbillon C, Leclerc P, Schischmanoff PO, Croisille L, Rince P, Morinière M, Benz EJ, Tchernia G, Tamagnini G, Ribeiro L, Delaunay J, Baklouti F.
Blood
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Blood
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Multiple cis elements regulate an alternative splicing event at 4.1R pre-mRNA during erythroid differentiation.
Authors: Authors: Deguillien M, Huang SC, Morinière M, Dreumont N, Benz EJ, Baklouti F.
Blood
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Blood
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Comprehensive cancer centres and the war on cancer.
Reassignment of the EPB4.1 gene to 1p36 and assessment of its involvement in neuroblastomas.
Authors: Authors: Huang S, Lichtenauer UD, Pack S, Wang C, Kim AC, Lutchman M, Koch CA, Torres-Cruz J, Huang SC, Benz EJ, Christiansen H, Dockhorn-Dworniczak B, Poremba C, Vortmeyer AO, Chishti AH, Zhuang Z.
Eur J Clin Invest
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Eur J Clin Invest
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The prototypical 4.1R-10-kDa domain and the 4.1g-10-kDa paralog mediate fodrin-actin complex formation.
Authors: Authors: Kontrogianni-Konstantopoulos A, Frye CS, Benz EJ, Huang SC.
J Biol Chem
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J Biol Chem
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Translational regulation of Na-K-ATPase subunit mRNAs by glucocorticoids.