RGD Reference Report - An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype. - Rat Genome Database

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An initiation codon mutation (AUG----GUG) of the human alpha 1-globin gene. Structural characterization and evidence for a mild thalassemic phenotype.

Authors: Moi, P  Cash, FE  Liebhaber, SA  Cao, A  Pirastu, M 
Citation: Moi P, etal., J Clin Invest. 1987 Nov;80(5):1416-21.
RGD ID: 10755567
Pubmed: PMID:3680504   (View Abstract at PubMed)
PMCID: PMC442398   (View Article at PubMed Central)
DOI: DOI:10.1172/JCI113220   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
alpha thalassemia  IAGP 10755567DNA:missense mutation:cds: c.2T>C(human)RGD 
alpha thalassemia  ISOHBA2 (Homo sapiens)10755567; 10755567DNA:missense mutation:cds: c.2T>C(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Hba-a1  (hemoglobin alpha, adult chain 1)

Genes (Mus musculus)
Hba-a1  (hemoglobin alpha, adult chain 1)

Genes (Homo sapiens)
HBA2  (hemoglobin subunit alpha 2)


Additional Information