Edward J. Benz headshot
Edward Benz, Jr., M.D.
Richard and Susan Smith Distinguished Professor of Medicine, Dana-Farber Cancer Institute
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.

Advancing the Science of Healthcare Service Delivery: The NHLBI Corporate Healthcare Leaders' Panel.
Authors: Authors: Sampson UKA, McGlynn EA, Perlin JB, Frisse ME, Arnold SB, Benz EJ, Brennan T, Briss P, Beeuwkes Buntin MJ, Khosla S, King RG, Kuntz R, Leider H, Ling SM, Macrae J, Murray R, Thrailkill E, Wager C, Witchey D, Jacobson HR.
Glob Heart
View full abstract on Pubmed
Ensuring quality cancer care through the oncology workforce.
Authors: Authors: Levit L, Smith AP, Benz EJ, Ferrell B.
J Oncol Pract
View full abstract on Pubmed
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
View full abstract on Pubmed
Na, K-ATPase isoform gene expression in normal and hypertrophied dog heart.
Authors: Authors: Zahler R, Gilmore-Hebert M, Sun W, Benz EJ.
Basic Res Cardiol
View full abstract on Pubmed
Protein 4.1R Exon 16 3' Splice Site Activation Requires Coordination among TIA1, Pcbp1, and RBM39 during Terminal Erythropoiesis.
Authors: Authors: Huang SC, Zhang HS, Yu B, McMahon E, Nguyen DT, Yu FH, Ou AC, Ou JP, Benz EJ.
Mol Cell Biol
View full abstract on Pubmed
Coupled transcription-splicing regulation of mutually exclusive splicing events at the 5' exons of protein 4.1R gene.
Authors: Authors: Huang SC, Cho A, Norton S, Liu ES, Park J, Zhou A, Munagala ID, Ou AC, Yang G, Wickrema A, Tang TK, Benz EJ.
Blood
View full abstract on Pubmed
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
View full abstract on Pubmed
The thalassemia syndromes: lessons from molecular medicines index case.
Authors: Authors: Benz EJ.
Trans Am Clin Climatol Assoc
View full abstract on Pubmed
The Jeremiah Metzger Lecture Cancer in the Twenty-First Century: An Inside View from an Outsider.
Authors: Authors: Benz EJ.
Trans Am Clin Climatol Assoc
View full abstract on Pubmed
Inhibition of protein 4.1 R and NuMA interaction by mutagenization of their binding-sites abrogates nuclear localization of 4.1 R.
Authors: Authors: Mattagajasingh SN, Huang SC, Benz EJ.
Clin Transl Sci
View full abstract on Pubmed