RGD Reference Report - Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE). - Rat Genome Database

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Duplication of 10 nucleotides in the erythroid band 3 (AE1) gene in a kindred with hereditary spherocytosis and band 3 protein deficiency (band 3PRAGUE).

Authors: Jarolim, P  Rubin, HL  Liu, SC  Cho, MR  Brabec, V  Derick, LH  Yi, SJ  Saad, ST  Alper, S  Brugnara, C 
Citation: Jarolim P, etal., J Clin Invest. 1994 Jan;93(1):121-30.
RGD ID: 1599007
Pubmed: (View Article at PubMed) PMID:8282779
DOI: Full-text: DOI:10.1172/JCI116935

We describe a duplication of 10 nucleotides (2,455-2,464) in the band 3 gene in a kindred with autosomal dominant hereditary spherocytosis and a partial deficiency of the band 3 protein that is reflected by decreased rate of transmembrane sulfate flux and decreased density of intramembrane particles. The mutant allele potentially encodes an abnormal band 3 protein with a 3.5-kD COOH-terminal truncation; however, we did not detect the mutant protein in the membrane of mature red blood cells. Since the mRNA levels for the mutant and normal alleles are similar and since the band 3 content is the same in the light and dense red cell fractions, we conclude that the mutant band 3 is either not inserted into the plasma membrane or lost from the membrane prior to the release of red blood cells into circulation. We further show that the decrease in band 3 content principally involves the dimeric laterally and rotationally mobile fraction of the band 3 protein, while the laterally immobile and rotationally restricted band 3 fraction is left essentially intact. We propose that the decreased density of intramembrane particles decreases the stability of the membrane lipid bilayer and causes release of lipid microvesicles that leads to surface area deficiency and spherocytosis.

Annotation

Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Slc4a1  (solute carrier family 4 member 1 (Diego blood group))

Genes (Mus musculus)
Slc4a1  (solute carrier family 4 (anion exchanger), member 1)

Genes (Homo sapiens)
SLC4A1  (solute carrier family 4 member 1 (Diego blood group))


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