A Functional Single Nucleotide Polymorphism in the Aγ Globin Gene Promoter Affects Globin Chain Synthesis

In Silico Analysis of Single Nucleotide Polymorphism (SNPs) in Human β-Globin Gene

Single amino acid substitutions in the globin chain are the most common forms of genetic variations that produce hemoglobinopathies--the most widespread inherited disorders worldwide. Several hemoglobinopathies result from homozygosity or compound heterozygosity to beta-globin (HBB) gene mutations, such as that producing sickle cell hemoglobin (HbS), HbC, HbD and HbE. Several of these mutations...

g-Globin Promoter Prevents Silencing of a Linked Human b-Globin Gene in Transgenic Mice

TMEM8 – a non-globin gene entrapped in the globin web

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...

Transient Expression Assay of Aγ-588 (A/G) Mutations in the K562 Cell Line

Background: In the previous study, we have shown that the presence of A allele at position -588 in Aγ-globin gene was highly frequent and closely associated with fetal hemoglobin elevation among β-thalassemia intermedia patients. Therefore, we decided to investigate whether this allele (A allele at -588) could result in an increase in Aγ-globin gene expression to ameliorate the severity of the ...

Analysis of the Human {-Globin Gene Promoter in Transgenic Mice

{-Globin is the embryonic form of the O( chain of hemoglobin. Transgenic mice generated with {-globin constructs containing the {-globin gene, 557 bp of 5 flanking sequence, and 2-kb of 3 flanking sequence linked to the @globin locus control region hypersensitive site 2 (HS2) expressed human {-globin only in embryonic yolk sac erythroid tissue, and not in definitive erythroid tissue in the feta...