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Prepublished online as a Blood First Edition Paper on May 13, 2002; DOI 10.1182/blood-2002-03-0706.
Submitted March 6, 2002
Accepted April 27, 2002
Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex
Lesley J Bruce, Sandip Ghosh, May-Jean King, D M Layton, William J Mawby, Gordon W Stewart, Per-Arne Oldenborg, Jean Delaunay, and Michael J Tanner*
Department of Biochemistry, University of Bristol, Bristol, BS8 1TD, United Kingdom
INSERM U473, INSERM, 94276 Le Kremlin-Bicetre Cedex, France
International Blood Group Reference Laboratory, Bristol, BS10 5ND, United Kingdom
Department of Haematology, Imperial College School of Medicine, London, W12 0NN, United Kingdom
The Rayne Institute, University College London Medical School, London, WC1E 6JJ, United Kingdom
Department of Integrative Medical Biology, Histology and Cell Biology, Umea University, SE-901 87, Sweden
INSERM U473 and Service d'Hematologie, d'Immunologie et de Cytogenetique, Hopital de Bicetre, Assistance Publique-Hopitaux de Paris, 94275 Le Kremlin-Bicetre, France
* Corresponding author; email: m.tanner{at}bris.ac.uk.
We describe a patient of South Asian origin with recessive hereditary spherocytosis due to absence of protein 4.2 [4.2 (-) HS]. Protein 4.2 cDNA sequence analysis showed the presence of a novel 41 bp frameshift deletion which predicts a truncated peptide designated protein 4.2 Hammersmith. Quantitative RT-PCR indicated that the mutant mRNA was unstable. Sequencing of protein 4.2 genomic DNA revealed that the deletion stems from aberrant splicing. The proband was homozygous for a G T substitution at position 1747 (cDNA numbering) that activates a cryptic acceptor splice site within exon 11 of the protein 4.2 gene (EPB42). The proband's mother was found to be heterozygous for this substitution. Unlike protein 4.2 null mice, the proband's red cells showed no evidence for abnormal cation permeability. Quantitation of red cell membrane proteins was carried out by SDS-PAGE, Western blotting and flow cytometric measurement. CD47, a protein associated with the Rh complex, was markedly reduced to about 1% (in the proband) and 65% (in the mother) that found in normal controls. The Rh-associated glycoprotein migrated with a higher than normal apparent MW on SDS-PAGE. There was no obvious reduction in Rh polypeptides. These observations indicate that protein 4.2 and CD47 interact in the human red cell membrane. They provide further evidence for an association between the band 3 complex (band 3, ankyrin, protein 4.2, glycophorin A) and the Rh complex (Rh-associated glycoprotein, Rh polypeptides, glycophorin B, CD47, LW) and define a point of attachment between the Rh complex and the red cell cytoskeleton.
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