Tal-effector nucleases (TALENs) are engineered proteins that can stimulate precise genome editing through specific DNA double-strand breaks. Sickle cell disease and β-thalassemia are common genetic disorders caused by mutations in β-globin, and we engineered a pair of highly active TALENs that induce modification of 54% of human β-globin alleles near the site of the sickle mutation. These TALEN...

We mapped the elements that mediate termination of transcription downstream of the chicken betaH- and betaA-globin gene poly(A) sites. We found no unique element and no segment of 3'-flanking DNA to be significantly more effective than any other. When we replaced the native 3'-flanking DNA with bacterial DNA, it too supported transcription termination. Termination in the bacterial DNA depended ...

In order to understand the possible role of globin genes in fish salinity adaptation, we report the molecular characterization and expression of all four subunits of haemoglobin, and their response to salinity challenge in flounder. The entire open reading frames of α1-globin and α2-globin genes were 432 and 435 bp long, respectively, whereas the β1-globin and β2-globin genes were both 447 bp. ...

Special AT-rich binding protein 1 (SATB1) nuclear protein, expressed predominantly in T cells, regulates genes through targeting chromatin remodeling during T-cell maturation. Here we show SATB1 family protein induction during early human adult erythroid progenitor cell differentiation concomitant with epsilon-globin expression. Erythroid differentiation of human erythroleukemia K562 cells by h...

The beta-globin locus control region (LCR) is a powerful regulatory element required for high-level globin gene expression. We have generated transgenic mouse lines carrying a beta-globin locus yeast artificial chromosome lacking the LCR to determine if the LCR is required for globin gene activation. beta-Globin gene expression was analyzed by RNase protection, but no detectable levels of epsil...

Cyanide can react with globin hemochromogen in two different ways. In the first reaction cyanide combines with globin hemochromogen without displacing or competing with globin. In the second reaction cyanide displaces globin.

HE HUMAN a-globin locus is located on chromosome 16 and is arranged in the order of ($(aa.’ The common molecular mechanism giving rise to a-thalassemia is caused by deletion of the a-globin structural genes. Because the a-globin genes are duplicated, a-thalassemia could result in three phenotypes. When one of the four a-globin genes in the diploid genome is deleted (-a/aa), a clinically silent ...

heterogeneity was evaluated by was identical to the ratio found in the electrophoresis on polyacrylamide gels. globin protein accumulated by 20 wk. The The mean G was 70% in 1 9 newborns, proportion of was also identical in 6 similar to the published value of 73% paired samples, at 20-wk gestation and at obtained by amino acid analysis of the y birth. Thus, G y production does not decline CG-3 ...

background: β-thalassemia is a common autosomal recessive disorder resulting from over 200 different mutations of beta glo­bin genes. the aim of the present study was to identify the distribution and frequency of the most com­mon β-thalassemia mu­tations among the population of isfahan province in central iran. methods: the data presented here were derived from a total of 114 β-thalassemia chro...

For more than 30 years it was believed that globin gene domains included only genes encoding globin chains. Here we show that in chickens, the domain of alpha-globin genes also harbor the non-globin gene TMEM8. It was relocated to the vicinity of the alpha-globin cluster due to inversion of an approximately 170-kb genomic fragment. Although in humans TMEM8 is preferentially expressed in resting...