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Expert
Reviews in Molecular Medicine: http://www.expertreviews.org/
Accession information: Vol. 8; Issue 13; 12 June 2006 Abstract
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Genomic organisation of the human RH locus
Neil D. Avent, Tracey E. Madgett, Zoe E. Lee, David J. Head, Deborah G. Maddocks and Lucy H. Skinner
Figure 1. Genomic organisation of the human RH locus. (a) The Rh blood group antigens are derived from the RHD and RHCE genes at human chromosome 1p34-36 The two genes are arranged in a tail-to-tail configuration and are separated by the seven-exon gene SMP1. Upstream and downstream of the RHD gene are two highly homologous gene segments known as Rhesus boxes. (b) In Caucasians, the cde haplotype, in which the whole of the RHD gene is absent, is thought to result from unequal crossover between the Rhesus boxes, generating a hybrid Rhesus box (Ref. 25). (c) In some African D-negative phenotypes, an essentially intact RHD pseudogene, RHDy, has multiple mutations (a 37 bp duplication at the intron3–exon4 boundary, missense mutations in exon 5 and a nonsense mutation in exon 6) (Ref. 33).
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References
cited in Figure 1 25 Wagner, F.F. and Flegel, W.A. (2000) RHD gene deletion occurred in the Rhesus box. Blood 95, 3662-3668, PubMed 33 Singleton, B.K. et al. (2000) The presence of an RHD pseudogene containing a 37 base pair duplication and a nonsense mutation in africans with the Rh D-negative blood group phenotype. Blood 95, 12-18, PubMed |
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