Alternative titles; symbols
| Location | Phenotype |
Phenotype MIM number |
Inheritance |
Phenotype mapping key |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 11p15.5 | [Blood group, Raph] | 179620 | 3 | CD151 | 602243 |
A number sign (#) is used with this entry because of evidence that the MER2 (RAPH) blood group antigen is determined by an epitope on the CD151 tetraspanin protein (602243).
Among the surprisingly large number of cell surface antigens that are coded by genes on chromosome 11, 3 are found on erythrocytes: S1 (151250), S3, and MER2. The last was identified by means of a murine monoclonal antibody and was named for the Eleanor Roosevelt Institute of Cancer Research in Denver where it was discovered (Daniels et al., 1987); MER stands for 'monoclonal Eleanor Roosevelt.' Among English blood donors, 92% were found to be MER2+, giving a gene frequency for the MER2+ allele of 0.7159. Family studies showed that MER2+ is inherited as an autosomal dominant and is independent of any of the main blood group loci.
Daniels et al. (1988) found 3 examples of an antibody detecting a red cell polymorphism probably identical to MER2. The antibodies were made by Jews originating from India and living in Israel. Two of them were sibs and the third was unrelated. All 3 had kidney disease requiring renal dialysis and regular blood transfusion. In 2 cases the antibodies were detected before dialysis was started and before the patients had been transfused. The human antibodies reacted with red cells in 90% of Israeli blood donors tested. In tests on selected blood donors, 82 English and 56 Israeli, 1 of the human antibodies gave almost identical reactions to those given by monoclonal anti-MER2.
Kagan et al. (1988) described the association of nephritis and pretibial epidermolysis bullosa in the 2 MER2-negative sibs who had end-stage renal disease (609057) (Daniels et al., 1988; Kagan et al., 1988). Karamatic Crew et al. (2004) showed that all 3 MER2-negative individuals were homozygous for a single-nucleotide insertion (G383) in exon 5 of CD151, causing a frameshift and a premature stop signal in codon 140 (602243.0001). The 3 MER2-negative individuals also had deafness and beta-thalassemia minor. The findings suggested that CD151, which is labeled by the MER2 epitope, is essential for the proper assembly of the glomerular and tubular basement membrane in kidney, has functional significance in the skin, is probably a component of the inner ear, and could play a role in erythropoiesis.
Verhoeven et al. (1998) found an allo-anti-MER2 in a healthy female blood donor. The subject was a 30-year-old healthy Turkish female who had no history of kidney disease and had never been transfused but had had 2 pregnancies. The donor cells were negative for both monoclonal and polyclonal anti-MER2. The cells of her husband, mother, and brother were incompatible.
Daniels et al. (1987) assigned the MER2 locus to 11p15 by study of somatic cell hybrids. The CD151 tetraspanin protein (602243), which carries the MER2 blood group specificity, maps to 11p15.5.
Daniels, G. L., Levene, C., Berrebi, A., Schechter, Y., Moulds, M., Sela, R., Poole, J., Lacey, P., Atkins, C. J. Human alloantibodies detecting a red cell antigen apparently identical to MER2. Vox Sang 55: 161-164, 1988. [PubMed: 3238950] [Full Text: https://doi.org/10.1111/j.1423-0410.1988.tb05085.x]
Daniels, G. L., Tippett, P., Palmer, D. K., Miller, Y. E., Geyer, D., Jones, C. MER2: a red cell polymorphism defined by monoclonal antibodies. Vox Sang. 52: 107-110, 1987. [PubMed: 3604155] [Full Text: https://doi.org/10.1111/j.1423-0410.1987.tb03002.x]
Kagan, A., Feld, S., Chemke, J., Bar-Khayim, Y. Occurrence of hereditary nephritis, pretibial epidermolysis bullosa and beta-thalassemia minor in two siblings with end-stage renal disease. (Letter) Nephron 49: 331-332, 1988. [PubMed: 3412548] [Full Text: https://doi.org/10.1159/000185086]
Karamatic Crew, V., Burton, N., Kagan, A., Green, C. A., Levene, C., Flinter, F., Brady, R. L., Daniels, G., Anstee, D. J. CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin. Blood 104: 2217-2223, 2004. [PubMed: 15265795] [Full Text: https://doi.org/10.1182/blood-2004-04-1512]
Verhoeven, G., Schaap, R. C., Champagne, K., Poole, J., Overbeeke, M. The first allo-anti MER2 found in a healthy female blood donor. (Abstract) Vox Sang. 74: 1439, 1998.