The human beta-globin gene complex spans a region of 70 kb and contains numerous sequence variants. These variant sites form a 5' cluster (5' beta-haplotype) and a 3' cluster (3' beta-haplotype) with strong linkage disequilibrium among the sites within each cluster, but not between the two clusters. The 9-kb region between the 5' and 3' clusters has been estimated to have rates of recombination...

Progress in the functional studies of human olfactory receptors has been largely hampered by the lack of a reliable experimental model system. Although transgenic approaches in mice could characterize the function of individual olfactory receptors, the presence of over 300 functional genes in the human genome becomes a daunting task. Thus, the characterization of individuals with a genetic susc...

The determination of long segments of DNA sequences encompassing the beta- and alpha-globin gene clusters has provided an unprecedented data base for analysis of genome evolution and regulation of gene clusters. A newly developed computer tool kit generates local alignments between such long sequences in a space-efficient manner, helps the user analyze the alignments effectively, and finds cons...

The hemoglobin of jawed vertebrates is a heterotetramer protein that contains two α- and two β-chains, which are encoded by members of α- and β-globin gene families. Given the hemoglobin role in mediating an adaptive response to chronic hypoxia, it is likely that this molecule may have experienced a selective pressure during the evolution of cetaceans, which have to deal with hypoxia tolerance ...

Developmental stage-specific expression of the β-type globin genes is regulated by many cis- and trans-acting components. The adult β-globin gene contains an E-box located 60 bp downstream of the transcription start site that has been shown to bind transcription factor upstream stimulatory factor (USF) and to contribute to efficient in vitro transcription. We expressed an artificial zinc finger...

The Ldb1/GATA-1/TAL1/LMO2 complex mediates long-range interaction between the β-globin locus control region (LCR) and gene in adult mouse erythroid cells, but whether this complex mediates chromatin interactions at other developmental stages or in human cells is unknown. We investigated NLI (Ldb1 homolog) complex occupancy and chromatin conformation of the β-globin locus in human erythroid cell...

objective(s): β-thalassemia is one of the most common genetic disorders in the world. as one of the promising treatment strategies, fetal hemoglobin (hb f) can be induced. the present study was an attempt to reactivate the γ-globin gene by introducing a gene construct containing klf1 binding sites to the k562 cell line. materials and methods: a plasmid containing a 192 bp sequence with two repe...

background: hemoglobinopathy and thalassemia are prevalent genetic disorders throughout the world. beta thalassemia is one of these disorders with high prevalence in iran, especially in khuzestan province. in this study, the rate of different mutations in β-globin gene for prenatal diagnosis in fetal samples was evaluated. materials and methods: in this experimental pilot study, 316 fetal sampl...

Objective: According to the characteristics of α/β-globin gene imbalance caused by α-globin gene accumulation in β-thalassemia, we designed two lentiviral vectors, that is, while we used the lentiviral to mediate full length human β-globin gene, we introduced the interference fragment of lentiviral α-globin gene to adjust the α/β chain ratio by increasing the expression of β-globin and decreasi...