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Erythrocyte complement receptor 1 (CR1) expression level is not associated with polymorphisms in the promoter or 3′ untranslated regions of the CR1 gene
Author(s) -
Cockburn I. A.,
Rowe J. A.
Publication year - 2006
Publication title -
international journal of immunogenetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.41
H-Index - 47
eISSN - 1744-313X
pISSN - 1744-3121
DOI - 10.1111/j.1744-313x.2005.00552.x
Subject(s) - biology , allele , gene , untranslated region , genetics , microbiology and biotechnology , restriction fragment length polymorphism , three prime untranslated region , complement receptor 1 , gene expression , genotype , complement system , messenger rna , antibody
Summary Complement receptor 1 (CR1) expression level on erythrocytes is genetically determined and is associated with high (H) and low (L) expression alleles identified by a Hin dIII restriction fragment‐length polymorphism (RFLP) in intron 27 of the CR1 gene. The L allele confers protection against severe malaria in Papua New Guinea, probably because erythrocytes with low CR1 expression, are less able to form pathogenic rosettes with Plasmodium falciparum ‐infected erythrocytes. Despite the biological importance of erythrocyte CR1, the genetic mutation controlling CR1 expression level remains unknown. We investigated the possibility that mutations in the upstream or 3′ untranslated regions of the CR1 gene could control erythrocyte CR1 level. We identified several novel polymorphisms; however, the mutations did not segregate with erythrocyte CR1 expression level or the H and L alleles. Therefore, high and low erythrocyte CR1 levels cannot be explained by polymorphisms in transcriptional control elements in the upstream or 3′ untranslated regions of the CR1 gene.