Human polymorphism of P-selectin glycoprotein ligand 1 attributable to variable numbers of tandem decameric repeats in the mucinlike region.
Platelet GP Ibalpha and leukocyte P-selectin glycoprotein ligand 1 (PSGL-1) are membrane mucins with a number of structural and functional similarities. It was investigated whether, like GP Ibalpha, PSGL-1 is affected by a variable number of tandem repeat polymorphism in its mucin-like region. By polymerase chain reaction amplification of the genomic region encoding the PSGL-1 repeats, 3 allelic variants were identified in the human population. The 3 alleles-A, B, and C-from largest to smallest, contained 16, 15, and 14 decameric repeats, respectively, with the B variant lacking repeat 2 and the C variant retaining repeat 2 but lacking repeats 9 and 10. Allele frequencies were highest for the A variant and lowest for the C variant in the 2 populations studied (frequencies of 0.81, 0.17, and 0.02 in white persons and 0.65, 0.35, and 0.00 in Japanese). Thus, PSGL-1 is highly polymorphic and contains a structural polymorphism that potentially indicates functional variation in the human population.
Afshar-Kharghan
V
V
Department of Medicine, Baylor College of Medicine, Houston, TX, USA.
Diz-Küçükkaya
R
R
Ludwig
E H
EH
Marian
A J
AJ
López
J A
JA
D000483:Alleles; D000595:Amino Acid Sequence; D005787:Gene Frequency; D006801:Humans; D008562:Membrane Glycoproteins / Q000737:chemistry / Q000235:genetics*; D018598:Minisatellite Repeats; D008969:Molecular Sequence Data; D009077:Mucins / Q000737:chemistry*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
D008562:Membrane Glycoproteins; D009077:Mucins; C084882:P-selectin ligand protein