Allelic variations in the plaice UGT1B1 gene

Abstract

We have shown that there are large internanimal variations in hepatic phenol UDP-glucuronosyltransferase (UGT) activity in the plaice which may affect their capacity to detoxify metabolites of carcinogenic PAHS such as benzo(a)pyrene with obvious implications for their health and survival. By molecular studies we have only been able to identify one copy of the UGT1B1 gene coding for the major phenol-UGT in the diploid plaice genome and found that it is highly polymorphic about this locus. Sequencing of multiple UGT1B1 cDNA clones derived from RT-PCR revealed the existence of clustered SNPs, however, from their positions we contend that this is not sufficient to explain the observed phenotypic variability. We discovered a heterozygous null genotype derived from a dinucleotide deletion (and also found preliminary evidence for a corresponding phenotype) which has a much greater implication for survival not only in polluted environments but for embryonic survival if the gene product has an essential endogenous role. We propose that the observed interanimal variations are attributable to a combination of factors including genotypic variations and differential expression.