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Prepublished online as a Blood First Edition Paper on May 13, 2002; DOI 10.1182/blood-2002-03-0706.
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Blood, 1 September 2002, Vol. 100, No. 5, pp. 1878-1885
RED CELLS
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. Mark Layton,
William J. Mawby,
Gordon W. Stewart,
Per-Arne Oldenborg,
Jean Delaunay, and
Michael J. A. Tanner
From the Department of Biochemistry, University of
Bristol, and International Blood Group Reference Laboratory, Bristol,
United Kingdom; INSERM U473, INSERM, 94276 Le Kremlin-Bicêtre
Cedex, France; Department of Haematology, Imperial College School of
Medicine and Rayne Institute, University College London Medical School,
London, United Kingdom; Department of Integrative Medical Biology,
Histology and Cell Biology, Umeå University, Umeå, Sweden; and INSERM
U473 and Service d'Hématologie, d'Immunologie et de
Cytogénétique, Hôpital de Bicêtre, Assistance
Publique-Hôpitaux de Paris, Le Kremlin-Bicêtre, France.
We present data on a patient of South Asian origin with recessive
hereditary spherocytosis (HS) 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 that predicts a truncated peptide designated
protein 4.2 Hammersmith. Quantitative reverse transcription-polymerase
chain reaction 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 sodium dodecyl
sulfate-polyacrylamide gel electrophoresis (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 healthy controls. The
Rh-associated glycoprotein migrated with a higher than normal apparent
molecular weight 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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