title: Molecular analysis of a silent polymorphism in the PDZ domain of p55, the major palmitoylated erythrocyte membrane protein.
abstract: Two independently published cDNA sequences of p55, the X-linked major palmitoylated erythrocyte membrane protein, revealed a discrepancy between G and T at position 358 (Genbank: M64925). This results in codon 85, in exon 3 in the PDZ (PSD-95, discs-large, Z0-1) domain, being either ACG or ACT. As both ACG and ACT code for threonine, this represents a silent polymorphism. Polymerase chain reaction (PCR), single-stranded conformational polymorphism (SSCP), and direct-sequencing analysis of exon 3 of the p55 gene was performed in 98 subjects of African and European origin. Of the 70 females studied, the frequency of G versus T at position 358 was 0.76:0.24, while of the 28 males, 16 had a G and 12 a T at position 358 (0.57:0.43). In subjects of African origin, the frequency of G versus T at position 358 was 0.78:0.22; in subjects of European origin the ratio was 0.63:0.37.
authors.affiliation: Department of Medicine, University of Witwatersrand Medical School, Parktown, South Africa.
authors.forename: P
authors.initials: P
authors.lastname: Ruff
authors.forename: E
authors.initials: E
authors.lastname: Grimm
authors.forename: A
authors.initials: A
authors.lastname: Kim
mesh_terms: D001798:Blood Proteins / Q000235:genetics* / Q000302:isolation & purification; D018076:DNA, Complementary / Q000235:genetics; D004910:Erythrocyte Membrane / Q000378:metabolism*; D005260:Female; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics* / Q000302:isolation & purification; D008969:Molecular Sequence Data; D019308:Palmitic Acid / Q000097:blood; D011110:Polymorphism, Genetic / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D017434:Protein Structure, Tertiary
chemical_list: D001798:Blood Proteins; D018076:DNA, Complementary; C089465:MPP1 protein, human; D008565:Membrane Proteins; D019308:Palmitic Acid