64 research outputs found
Evidence for posttranslational control of Hb C synthesis in an individual with Hb C trait and alpha-thalassemia
Evidence for posttranslational control of Hb C synthesis in an individual with Hb C trait and alpha-thalassemia
Developmental switch in the relative expression of the alpha 1- and alpha 2-globin genes in humans and in transgenic mice
An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype
alpha-globin is encoded by two adjacent genes, alpha 1 and alpha 2. Recent
evidence suggests that these genes are not equally expressed and that the alpha
2-globin gene encodes the majority of alpha-globin. This finding would predict
that a thalassemic mutation of the alpha 2-globin gene would result in a more
severe loss of alpha-chain synthesis than a similar mutation in the alpha
1-globin gene. In a previous study we described a nondeletion alpha-thalassemia
defect in the alpha 2-globin gene resulting from an AUG----ACG initiation codon
mutation. In the present study we describe a different initiation codon mutation,
AUG----GUG, present in the alpha 1-globin gene. The alpha 1- and alpha 2-globin
gene initiation codon mutations result in similarly lowered levels of encoded
mRNA. Despite the similarity of these two mutations, the alpha 2 mutant results
in a more severe loss of alpha-globin synthesis and a more severe clinical
alpha-thalassemia phenotype than the corresponding alpha 1-globin gene mutation.
This difference reflects the dominant role of alpha 2-globin gene in overall
alpha-globin synthesis
Developmental switch in the relative expression of the alpha 1- and alpha 2-globin genes in humans and in transgenic mice
Locus assignment of two alpha-globin structural mutants from the Caribbean basin: alpha Fort de France (alpha 45 Arg) and alpha Spanish Town (alpha 27 Val)
Developmental switching of messenger RNA expression from the human alpha-globin cluster: fetal/adult pattern of theta-globin gene expression
Alpha-thalassemia resulting from deletion of regulatory sequences far upstream of the alpha-globin structural genes
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