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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Sequence diversity, natural selection and linkage disequilibrium in the human T cell receptor alpha/delta locus.

T cell receptors ( TR), through their interaction with the major histocompatibility complex, play a central role in immune responsiveness and potentially immune-related disorders. We resequenced all 57 variable (V) genes in the human T cell receptor alpha and delta (TRA/TRD) locus in 40 individuals of Northern European, Mexican, African-American and Chinese descent. Two hundred and eighty-four single nucleotide polymorphisms (SNPs) were identified. The distribution of SNPs between V genes was heterogeneous, with an average of five SNPs per gene and a range of zero to 15. We describe the patterns of linkage disequilibrium for these newly discovered SNPs and compare these patterns with other emerging large-scale datasets (e.g. Perlegen and HapMap projects) to place our findings into a framework for future analysis of genotype-phenotype associations across this locus. Furthermore, we explore signatures of natural selection across V genes. We find evidence of strong directional selection at this locus as evidenced by unusually high values of F (st).[1]

References

  1. Sequence diversity, natural selection and linkage disequilibrium in the human T cell receptor alpha/delta locus. Mackelprang, R., Livingston, R.J., Eberle, M.A., Carlson, C.S., Yi, Q., Akey, J.M., Nickerson, D.A. Hum. Genet. (2006) [Pubmed]
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