Absence of CD47 in protein 4.2–deficient hereditary
spherocytosis in man: an interaction between the Rh
complex and the band 3 complex
by 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
Blood
Volume 100(5):1878-1885
September 1, 2002
©2002 by American Society of Hematology
Electrophoretic and immunostaining of the proteins of the band 3 complex and of the Rh
complex.Erythrocyte ghost membranes were separated on 8% or 10% Laemmli gels.
Lesley J. Bruce et al. Blood 2002;100:1878-1885
©2002 by American Society of Hematology
The 41-bp frameshift deletion (nucleotides 1709-1749) in the 5′ end of exon 11 protein 4.2
cDNA.(A) Normal protein 4.2 cDNA sequence shown between nucleotides 1699-1779 (numbered
according to Sung et al2).
Lesley J. Bruce et al. Blood 2002;100:1878-1885
©2002 by American Society of Hematology
PCR product of a region of protein 4.2 cDNA encompassing exon 11.PCR of a region of protein
4.2 cNDA encompassing exon 11 (nucleotides 1111-1797; numbered according to Sung et al2)
produced a single band of 686 nucleotides from the control and a single band...
Lesley J. Bruce et al. Blood 2002;100:1878-1885
©2002 by American Society of Hematology
Genomic mutation (1747G>T) in the proband and the cryptic acceptor splice site.Normal protein
4.2 genomic DNA sequence is shown between nucleotides 1699-1779 (using cDNA numbered
according to Sung et al2), also shown are the “gt” donor and “ag” acceptor sit...
Lesley J. Bruce et al. Blood 2002;100:1878-1885
©2002 by American Society of Hematology
Schematic representation of the link between the band 3 complex and the Rh complex.The band
3 complex (band 3, ankyrin, protein 4.2, and GPA) and the Rh complex (Rh polypeptides, RhAG,
CD47, and GPB) pack closely together, the association of protein 4.2 wit...
Lesley J. Bruce et al. Blood 2002;100:1878-1885
©2002 by American Society of Hematology