A single-nucleotide polymorphism, rs905709 (allele A), at the splice donor site on intron 1 of CD300H is responsible for the loss of CD300H expression.
A, schematic structure of the exon-intron of CD300H. F and R, sites of primers. Peripheral blood mononuclear cells derived from healthy donors carrying the A/A, G/A, or G/G genotype were subjected to RT-PCR analysis for the expression of CD300H and GAPDH transcripts (B) or were analyzed for surface expression of CD300H on CD14dimCD16+ Mo by flow cytometry analysis (C), as described in the legend to Fig. 3. Data are representative of two independent experiments. D, table from the National Center for Biotechnology Information SNP Web site showing the population diversity of SNP rs905709 in Utah residents with ancestry from Northern and Western Europe (CEU), Han Chinese in Beijing (HCB), Japanese in Tokyo (JPT), and Yoruba in Ibadan, Nigeria (YRI) populations. HWP, Hardy-Weinberg probability; Chrom. Sample Cnt, chromosome sample count; IG, individual genotype.