Partial sequence analyses of exon 7 of the ABO locus of cynomolgus (Macaca fascicularis) and rhesus (M. mulatta) macaques: Indeterminate phenotypes show the presence of the O blood group

Sreetharan Kanthaswamy, Robert F. Oldt, Ruweida Said, Jose Grijalva, Asiya Falak, Ashley Jensen, Choice Vizor, Paul Houghton, Srichan Bunlungsup, Suchinda Malaivijitnond, David G. Smith

Research output: Contribution to journalArticlepeer-review

Abstract

Compatibility tests to identify A, B, and O alleles are critical for establishing suitable donor-recipient matches among experimental animals. Using a qPCR-based SNP probe assay, we have identified A, B, AB, and indeterminate blood group phenotypes in cynomolgus and rhesus macaques. We have hypothesized, albeit without molecular confirmation, that the indeterminate phenotype represents homozygosity for the null O allele at the macaque ABO locus. The indeterminate phenotype represents the unsuccessful detection of either A or B alleles using primers targeting the A-specific and B-specific single nucleotide polymorphisms (SNPs) in a variable region of exon 7 of the ABO locus. These SNPs are associated with two functional sites, detected using two allele-specific probes in the qPCR assay where the codons leucine and methionine (at codon 266) and glycine and alanine (at codon 268) are required for the synthesis of the A and B transferases, respectively. While reference sequences for the A and B alleles exhibited no novel mutations in the functional exon, plasmid Sanger sequence analyses showed unique mutations within the diagnostic target sites in 10 macaques exhibiting the indeterminate phenotype. Eight of these indeterminate individuals exhibited SNPs at codon 268 that should prevent the syntheses of an A or B transferase. While the two other indeterminate samples had functional codons that were consistent with A or B alleles, mutations in either their probe- or primer-binding sites that altered their peptide sequences probably impeded their detection by our assay.

Original languageEnglish (US)
Pages (from-to)482-492
Number of pages11
JournalHLA
Volume94
Issue number6
DOIs
StatePublished - Dec 1 2019

Keywords

  • ABO loci
  • longtail macaques
  • non-human primates
  • rhesus macaques
  • Sanger sequencing

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology
  • Genetics

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