The addition of two embryonic globin genes, zeta 0 and zeta 4, to the rabbit alpha-like globin gene cluster expands it to include eight genes arranged 5'-zeta 0-zeta 1-alpha 1-theta 1-zeta 2-zeta 3-theta 2-zeta 4-3'. The identification of these new genes supports the model that this gene cluster evolved by a series of block duplications of gene sets. The nucleotide sequence of three embryonic z...

Analysis of DNA from the &globin gene cluster in an Albanian family identified a novel RsaI site approximately 550 base pairs 5' to the &globin gene. In this family, two chromosomes carrying otherwise identical B-globin haplotypes were found to differ at the RsaI site. Population screening demonstrated the presence and absence of the site in DNA from individuals of northern European, Mediterran...

Genomic maps of chromatin modifications have provided evidence for the partitioning of genomes into domains of distinct chromatin states, which assist coordinated gene regulation. The maintenance of chromatin domain integrity can require the setting of boundaries. The HS4 insulator element marks the 3' boundary of a heterochromatin region located upstream of the chicken β-globin gene cluster. H...

background: mutations in β -globin gene may result in β-thalassemia major, which is one of the most common genetic dis­or­ders in iran and some other countries. knowing the beta-globin mutation spectrum improves the efficiency of prenatal diagno­sis in the affected fetuses (major β-thalassemia) of heterozygote couples. methods: couples with high hemoglobin a 2 and low mean corpuscular volume we...

Three Japanese individuals with homozygous ‘-thalassemia from different families were the subjects of molecular genetic analysis. They were homozygous for seven polymorphic sites in the fl-globin gene cluster. Nucleotide sequence analysis of the 6-globin gene cloned from each patient revealed a single nucleotide substitution (T-C) 77 base pairs 5’ to the cap site, just upstream of the CCAAC box...

A major positive regulatory element has recently been identified 40 kb upstream from the human zeta 2-globin gene. This regulatory element increases the expression of a linked alpha-globin gene in mouse erythroleukemia cells and in transgenic mice. This element has been shown to share many of the structural and functional features of the locus control region (LCR) of the beta-globin gene cluste...

The beta-globin locus control region (LCR) is characterized by erythroid-specific DNase I hypersensitive sites and is involved in the chromatin organization, transcriptional potentiation, developmental regulation, and replication timing of the entire beta-globin gene cluster. When and how the LCR is first activated during erythropoiesis is not known. Here we analyze the chromatin structure of t...

Thalassemia, an inherited quantitative globin disorder, consists of two types, α– and β–thalassemia. β–thalassemia is a heterogeneous disease that can be asymptomatic, mild, or even severe. Considerable research has focused on investigating its underlying etiology. These studies found DNA hypomethylation in the β–globin gene cluster significantly related to fetal hemoglobin (HbF) elevation. His...

Natural deletions of the region upstream of the human -globin gene cluster, together with expression studies in cell lines and transgenic mice, identified a single element (HS 40) as necessary and perhaps sufficient for high-level expression of the -globin genes. A similar element occupies the corresponding position upstream of the mouse (m) -globin genes (mHS 26) and was thought to have simila...

objective: β-thalassemia is caused by absence or reduction of β-globin chain synthesis. one of the effective therapeutic methods for this disease can be gene therapy by viral vectors. the capacity of lentiviral vectors is approximately 8 kb, we designed a 6 kb construct containing mini lcr and β-globin gene instead of lcr region. the aim of this study is to make a recombinant lentiviruses conta...