PMID- 10488738 OWN - NLM STAT- MEDLINE DCOM- 20000131 LR - 20190826 IS - 0001-2815 (Print) IS - 0001-2815 (Linking) VI - 54 IP - 2 DP - 1999 Aug TI - Polymorphism of human CD1 genes. PG - 122-7 AB - Human CD1 genes have been reported to be invariant or to show limited polymorphism. Recently, certain functions of CD1 antigens have been described to include the presentation lipid and glycolipid antigens. These observations prompted a thorough survey of the genetic polymorphism in the five human CD1 genes (CD1a-CD1e). Using polymerase chain reaction-single stranded conformational polymorphism (PCR-SSCP) combined with sequence analyses, exons 2 and 3 from CD1a-CD1e were characterized from a total of 110 unrelated healthy donors. Results showed that all five genes (CD1a-CD1e) are polymorphic in exon 2. Substitutions in CD1b and CD1c are silent, whereas, substitutions in CD1a, CD1d and CD1e result in amino acid replacements in the deduced protein products. CD1a and CD1e polymorphisms are prevalent in the population. The substitutions in CD1a have characteristics that may influence interactions with beta2-microglobulin beta2-m) or accessory molecules. The substitution in CD1e is located in the region predicted to interact with ligands and may differentially impact the ability of CD1e alleles to bind antigen. FAU - Han, M AU - Han M AD - Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, Twinbrook II Facility, National Institutes of Health, Rockville, MD 20852, USA. FAU - Hannick, L I AU - Hannick LI FAU - DiBrino, M AU - DiBrino M FAU - Robinson, M A AU - Robinson MA LA - eng SI - GENBANK/AF142665 SI - GENBANK/AF142666 SI - GENBANK/AF142667 SI - GENBANK/AF142668 SI - GENBANK/AF142669 PT - Journal Article PL - England TA - Tissue Antigens JT - Tissue antigens JID - 0331072 RN - 0 (Antigens, CD1) SB - IM MH - Amino Acid Sequence MH - Antigens, CD1/*genetics MH - Base Sequence MH - Humans MH - Models, Molecular MH - Molecular Sequence Data MH - Polymorphism, Genetic/*immunology EDAT- 1999/09/17 00:00 MHDA- 1999/09/17 00:01 CRDT- 1999/09/17 00:00 PHST- 1999/09/17 00:00 [pubmed] PHST- 1999/09/17 00:01 [medline] PHST- 1999/09/17 00:00 [entrez] AID - 10.1034/j.1399-0039.1999.540202.x [doi] PST - ppublish SO - Tissue Antigens. 1999 Aug;54(2):122-7. doi: 10.1034/j.1399-0039.1999.540202.x.