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Journal of Heredity Advance Access originally published online on November 21, 2007
Journal of Heredity 2007 98(7):666-677; doi:10.1093/jhered/esm095
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© The American Genetic Association. 2007. All rights reserved. For permissions, please email: journals.permissions@oxfordjournals.org.

Two Patterns of Variation among MHC Class I Loci in Tuatara (Sphenodon punctatus)

Hilary C. Miller, Matiu Andrews-Cookson, and Charles H. Daugherty

From the Allan Wilson Centre for Molecular Ecology and Evolution, School of Biological Sciences, Victoria University of Wellington, PO Box 600, Wellington, 6140 New Zealand (Miller, Andrews-Cookson, and Daugherty)

Address correspondence to H. C. Miller at the address above, or e-mail: hilary.miller{at}vuw.ac.nz.

The genes of the major histocompatibility complex (MHC) are a central component of the immune system in vertebrates and have become important markers of functional, fitness-related genetic variation. We have investigated the evolutionary processes that generate diversity at MHC class I genes in a large population of an archaic reptile species, the tuatara (Sphenodon punctatus), found on Stephens Island, Cook Strait, New Zealand. We identified at least 2 highly polymorphic (UA type) loci and one locus (UZ) exhibiting low polymorphism. The UZ locus is characterized by low nucleotide diversity and weak balancing selection and may be either a nonclassical class I gene or a pseudogene. In contrast, the UA-type alleles have high nucleotide diversity and show evidence of balancing selection at putative peptide-binding sites. Twenty-one different UA-type genotypes were identified among 26 individuals, suggesting that the Stephens Island population has high levels of MHC class I variation. UA-type allelic diversity is generated by a mixture of point mutation and gene conversion. As has been found in birds and fish, gene conversion obscures the genealogical relationships among alleles and prevents the assignment of alleles to loci. Our results suggest that the molecular mechanisms that underpin MHC evolution in nonmammals make locus-specific amplification impossible in some species.

Corresponding Editor: Stephen J. O'Brien

Received April 19, 2007
Accepted July 31, 2007


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