PMID- 15219387 OWN - NLM STAT- MEDLINE DCOM- 20050210 LR - 20040628 IS - 0198-8859 (Print) IS - 0198-8859 (Linking) VI - 65 IP - 6 DP - 2004 Jun TI - Identification of two pseudogenes with sequence homology to human and gorilla MHC class IA genes: ancestral haplotype in the Filipino population. PG - 665-73 AB - While characterizing exons 2 and 3 of the class I human leukocyte antigen (HLA)-A locus in human lymphocytes, two similar but unexpected PCR products were detected in six samples of Filipino ethnicity. A nucleotide sequence analysis of the two amplicons, tentatively named HLA-COQ and HLA-DEL, rendered them as two novel and seemingly related sequences, both with homology to the gorilla and human major histocompatibility complex (MHC) A locus. Exon 2 is similar to the published human pseudogenes HLA-BEL, HLA-Y, and to primate MHC Gogo-A*0501, differing by 2 bp from HLA-BEL, and HLA-Y, and by 4 bp from Gogo-A*0501. Exon 3 is most similar to HLA-A*2902 and A*310102, differing by 7 bp from A*2902, and by 8 bp from A*31012. Genomic sequence comparison of exons 1 to 8 indicates that their closest published match is to the Gogo-A*0501. Complete typing at the HLA-A, -B, -C, DRB1, and DRB5 loci for the six samples yielded the reoccurring types: HLA-A*3401, -B*1521/1525, -Cw*0403, -DRB1*150201, and DRB5*010101. Thus far, HLA-COQ and HLA-DEL have been detected only in Filipino samples containing these HLA types. The HLA-COQ gene is nonfunctional based on a stop codon located in exon 4. HLA-DEL is also a nonfunctional gene because of the dual cytosine insertion in exon 4, with a reading frame shift generating a stop codon downstream. Parsimony analysis of the two pseudogenes with 31 other primate A locus coding regions resulted in a phylogenetic tree that segregated the two pseudogenes with the Gogo-A*0501, suggesting that HLA-COQ, HLA-DEL, and Gogo-A*0501 evolved from a common ancestral allele. FAU - Coquillard, G AU - Coquillard G AD - Children's Memorial Hospital, Chicago, IL, USA. g-coquillard@northwestern.edu FAU - Lau, M AU - Lau M FAU - Kletzel, M AU - Kletzel M FAU - Rodriguez-Marino, S G AU - Rodriguez-Marino SG LA - eng PT - Journal Article PL - United States TA - Hum Immunol JT - Human immunology JID - 8010936 RN - 0 (Histocompatibility Antigens Class I) SB - IM MH - *Alleles MH - Amino Acid Sequence MH - Animals MH - Exons/*genetics/immunology MH - Frameshift Mutation/genetics/immunology MH - Gorilla gorilla/*genetics/immunology MH - Histocompatibility Antigens Class I/*genetics/immunology MH - Humans MH - Molecular Sequence Data MH - Philippines MH - *Phylogeny MH - Pseudogenes/*genetics/immunology EDAT- 2004/06/29 05:00 MHDA- 2005/02/11 09:00 CRDT- 2004/06/29 05:00 PHST- 2004/01/16 00:00 [received] PHST- 2004/02/12 00:00 [accepted] PHST- 2004/06/29 05:00 [pubmed] PHST- 2005/02/11 09:00 [medline] PHST- 2004/06/29 05:00 [entrez] AID - S0198885904000618 [pii] AID - 10.1016/j.humimm.2004.02.025 [doi] PST - ppublish SO - Hum Immunol. 2004 Jun;65(6):665-73. doi: 10.1016/j.humimm.2004.02.025.