+ Translate

Spectrin beta-chain variant associated with hereditary elliptocytosis

, : Spectrin beta-chain variant associated with hereditary elliptocytosis. Journal of Clinical Investigation 70(4): 707-715

An electrophoretically fast-moving variant of the spectrin beta-chain was discovered in the erythrocyte membranes of a woman and her father who both exhibited elliptocytosis and mild hemolytic anemia. This abnormal beta'-subunit (Mr = 214,000) co-existed with a decreased normal beta-chain and represented about half of the total beta-chains in the membrane. In contrast to the spectrin beta-chain, the beta'-chain was phosphorylated neither in the membrane by endogenous protein kinases nor in solution by pure membrane casein kinase whether or not the spectrin was dephosphorylated by erythrocyte cytosolic spectrin phosphatase. The presence of the beta'-chain was associated with a defective self-association of spectrin dimer to form tetramer as manifested by: (a) an excess of spectrin dimer in the 4 degrees C spectrin crude extract, (b) a defective self-association of the spectrin dimer in the 37 degrees C crude spectrin extracts. Gel electrophoretic analysis of the tetramer and dimer species isolated from the proband's 4 degrees C extract showed that the tetramer contained trace amounts of the beta'-chain, whereas in contrast, a large proportion of beta'-chain was present in the dimer. These results demonstrated the responsibility of the beta'-chain for the defective reassociation of spectrin dimer into tetramer. The study of this abnormal spectrin confirms the participation of spectrin beta-chain in dimer-dimer association and strongly suggests that the phosphorylation sites of the normal beta-chain are located at the end of the molecule involved in the dimer-dimer interactions.

(PDF 0-2 workdays service)

Accession: 044375462

PMID: 7119110

Submit PDF Full Text: Here

Submit PDF Full Text

No spam - Every submission is manually reviewed

Due to poor quality, we do not accept files from Researchgate

Submitted PDF Full Texts will always be free for everyone
(We only charge for PDFs that we need to acquire)

Select a PDF file:

Related references

Garbarz, M.; Boulanger, L.; Pedroni, S.; Lecomte, M.C.; Gautero, H.; Galand, C.; Boivin, P.; Feldman, L.; Dhermy, D., 1992: Spectrin beta Tandil, a novel shortened beta-chain variant associated with hereditary elliptocytosis is due to a deletional frameshift mutation in the beta-spectrin gene. An Argentinian family with hereditary elliptocytosis (HE) associated with a shortened beta-spectrin (Sp) chain was studied. As with most of the other shortened Sp beta-chains that have been described, this variant, called SpTandil, has impaired ab...

Boivin P.; Dhermy D.; Lecomte M.C.; Garbarz M.; Bournier O.; Galand C.; Alloisio N.; Delaunay J., 1982: Molecular variant of the beta chain of spectrin associated with hereditary elliptocytosis the le puy variant. Nouvelle Revue Francaise d'Hematologie 24(4): 271

Qualtieri, A.; Pasqua, A.; Bisconte, M.G.; L.P.ra, M.; Brancati, C., 1997: Spectrin Cosenza: a novel beta chain variant associated with Sp alphaI/74 hereditary elliptocytosis. A Calabrian family (Southern Italy) with Sp alpha(I/74) hereditary elliptocytosis (HE) in the heterozygous state was studied. Sp alpha(I/74) HE is associated with asymptomatic elliptocytosis, a defect in spectrin dimer self association and an incr...

Basserès, D.S.; Pranke, P.H.; Sales, T.S.; Costa, F.F.; Saad, S.T., 1997: Beta-spectrin Campinas: a novel shortened beta-chain variant associated with skipping of exon 30 and hereditary elliptocytosis. beta-Spectrin Campinas is a novel spectrin variant associated with a shortened beta-chain in a kindred with hereditary elliptocytosis (BE). The propositus and her mother exhibited increased amounts of spectrin dimers and an increase in the alpha-I...

Garbarz, M.; Tse, W.T.; Gallagher, P.G.; Picat, C.; Lecomte, M.C.; Galibert, F.; Dhermy, D.; Forget, B.G., 1991: Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation. The molecular defect responsible for the shortened beta-spectrin chain variant, spectrin Rouen, was identified by analysis of cDNA and genomic DNA of affected individuals after amplification by the polymerase chain reaction. Peripheral blood retic...

Ravindranath Y.; Johnson R.M.; Brohn F.; Hussain M.; Gannon S., 1988: Linkage of alpha 65 spectrin variant with hereditary elliptocytosis he in a family with both alpha spectrin and large beta spectrin 260kda mutants. Pediatric Research 23(4 PART 2): 345A

Gallagher, P.G.; Tse, W.T.; Costa, F.; Scarpa, A.; Boivin, P.; Delaunay, J.; Forget, B.G., 1991: A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin chain. We studied a French kindred with hereditary elliptocytosis associated with a spectrin variant (spectrin LePuy) containing a beta-spectrin chain that is truncated at its C terminus (Dhermy, D., Lecomte, M., Garbarz, M., Bournier, O., Galand, C., Ga...

Pothier, B.; Morlé, L.; Alloisio, N.; Ducluzeau, M.T.; Caldani, C.; Féo, C.; Garbarz, M.; Chaveroche, I.; Dhermy, D.; Lecomte, M.C., 1987: Spectrin Nice (beta 220/216): a shortened beta-chain variant associated with an increase of the alpha I/74 fragment in a case of elliptocytosis. We describe a new spectrin variant with a truncated beta-chain. It was discovered in a 17-year-old white boy presenting with intermittent jaundice and spleen enlargement. He also displayed numerous smooth elliptocytes. On sodium dodecyl sulfate-po...

Gallagher P.; Garbarz M.; Tse W.; Picat C.; Lecomte M.E.; Dhermy D.; Forget B.G., 1990: Exon skipping due to a splice site mutation causes hereditary elliptocytosis he associated with the shortened beta chain of spectrin rouen. Clinical Research 38(2): 266A

Lecomte, M.C.; Nicolas, G.; Pedroni, S.; Gautero, H.; Fournier, C.; Dhermy, D.; Grandchamp, B., 1994: Studies of the tetramerisation site using recombinant alpha and beta spectrin peptides; effect of two beta-spectrin mutations associated with hereditary elliptocytosis. Blood 84(10 SUPPL 1): 4A