Platypus globin genes and flanking loci suggest a new insertional model for beta-globin evolution in birds and mammals [PDF]
Background Vertebrate alpha (α)- and beta (β)-globin gene families exemplify the way in which genomes evolve to produce functional complexity. From tandem duplication of a single globin locus, the α- and β-globin clusters expanded, and then were ...
Warren Wesley C+7 more
doaj +5 more sources
Unveiling the molecular landscape of δ-thalassemia and δ-globin variants in southern China: novel mutations, gene spectrum, and implications for thalassemia diagnosis [PDF]
Objectivesδ-thalassemia and δ-globin variants are rare hemoglobinopathies. However, co-inheritance of β-thalassemia and δ-globin gene mutations may affect the diagnosis of β-thalassemia carriers when based on the elevated Hb A2.
Youqiong Li+9 more
doaj +2 more sources
A Novel High-Content Immunofluorescence Assay as a Tool to Identify at the Single Cell Level γ-Globin Inducing Compounds. [PDF]
The identification of drugs capable of reactivating γ-globin to ameliorate β-thalassemia and Sickle Cell anemia is still a challenge, as available γ-globin inducers still have limited clinical indications.
Marta Durlak+14 more
doaj +6 more sources
A dual reporter mouse model of the human β-globin locus: applications and limitations. [PDF]
The human β-globin locus contains the β-like globin genes (i.e. fetal γ-globin and adult β-globin), which heterotetramerize with α-globin subunits to form fetal or adult hemoglobin.
Petros Papadopoulos+8 more
doaj +4 more sources
Variation in RNA-Seq transcriptome profiles of peripheral whole blood from healthy individuals with and without globin depletion. [PDF]
BackgroundThe molecular profile of circulating blood can reflect physiological and pathological events occurring in other tissues and organs of the body and delivers a comprehensive view of the status of the immune system.
Heesun Shin+10 more
doaj +2 more sources
Exploratory Review and In Silico Insights into circRNA and RNA-Binding Protein Roles in γ-Globin to β-Globin Switching [PDF]
β-globin gene cluster regulation involves complex mechanisms to ensure proper expression and function in RBCs. During development, switching occurs as γ-globin is replaced by β-globin.
Alawi Habara
doaj +2 more sources
The globin gene family of the cephalochordate amphioxus: implications for chordate globin evolution [PDF]
Background The lancelet amphioxus (Cephalochordata) is a close relative of vertebrates and thus may enhance our understanding of vertebrate gene and genome evolution.
Marden Michael C+6 more
doaj +5 more sources
A major barrier to the clinical use of erythrocytes generated in vitro from pluripotent stem cells or cord blood progenitors is failure of these erythrocytes to express adult hemoglobin.
Kongtana Trakarnsanga+9 more
doaj +2 more sources
The structure and expression of mammalian gene clusters [PDF]
We report here the localisation of sequences responsible for the faulty expression of human beta-globin gene in Putko and K562 cells. Complete beta-globin gene introduced into these cells produces transcripts with abnormal 5' ends, while cotransfected ...
Boer, E. de+11 more
core +11 more sources
CTCF-mediated transcriptional regulation through cell type-specific chromosome organization in the {\beta}-globin locus [PDF]
The principles underlying the architectural landscape of chromatin beyond the nucleosome level in living cells remains largely unknown despite its potential to play a role in mammalian gene regulation. We investigated the 3-dimensional folding of a 1 Mbp
Ann Dean+56 more
core +13 more sources