10.1083/jcb/1722iti3jcb1722iti3Sometimes size does matter D uring myofi broblast differentiation in vitro, “supermature” focal adhesions (FAs) arise due to increased physical stress, report Goffi n et al. (page 259). Additionally, increased tension induces accumulation of αsmooth muscle actin (α-SMA) in stress fi bers that are anchored at these FAs. In vivo, the extracellu...

OBJECTIVES Iran is considered as one of the high-prevalence areas for β-thalassemia with a rate of about 10% carrier frequency. Molecular diagnosis of the disease is performed both by direct sequencing and indirectly by the use of polymorphic markers present in the beta globin gene cluster. However, to date there is no reliable information on the application of the markers in the Iranian popula...

Enhancers and promoters assemble protein complexes that ultimately regulate the recruitment and activity of RNA polymerases. Previous work has shown that at least some enhancers form stable protein complexes, leading to the formation of enhanceosomes. We analyzed protein-DNA interactions in the murine β-globin gene locus using the methyltransferase accessibility protocol for individual template...

Heterozygous beta-thalassemia (β-thal) carriers are characterized by microcytosis, hypochromia, and elevated HbA2 levels (≥3.5%) [1]. Although an elevated HbA2 level is a diagnostic parameter for β-thal, the interaction between d-globin gene mutation and β-thal can result in a normal HbA2 level, leading to misdiagnosis [2]. As δ-thalassemia (δ-thal) has no clinical significance, a reduced HbA2 ...

The locus activation region (LAR) of the human beta-globin-like gene cluster is characterized by a group of four DNase I hypersensitive sites, which arise specifically in erythroid tissues and are required for a normal pattern of beta-globin-like gene expression. The hypersensitive sites are found at positions 6.1, 10.9, 14.7, and 18 kilobase pairs (kbp) 5' of the epsilon-globin gene. Recently ...

background: β-thalassemia as a hereditary disease is defined as defective synthesis of   β-globin chains, resulting in erythropoiesis abnormalities and severe anemia. different studies have shown that cytokines and cytokine gene polymorphisms play a major role in the pathogenesis of   β-thalassemia. single nucleotide polymorphisms (snps) within the promoter region or other regulatory sequences ...

Gene therapy for sickle cell disease will require efficient delivery of a tightly regulated and stably expressed gene product to provide an effective therapy. In this study we utilized the non-viral Sleeping Beauty (SB) transposon system using the SB100X hyperactive transposase to transduce human cord blood CD34(+) cells with DsRed and a hybrid IHK-β-globin transgene. IHK transduced cells were ...