Sec1-FUT2-Sec1 hybrid allele generated by interlocus gene conversion.

BACKGROUND:Many single-nucleotide polymorphisms have been identified in the coding region of the FUT2 locus, which encodes secretor type alpha(1,2)fucosyltransferase. In addition, three recombination alleles have been reported. Of these recombination alleles, a fusion gene generated by an unequal crossing over between Sec1, a pseudogene that locates 23 kb upstream to and has high sequence homology with FUT2 and FUT2, was identified as a Japanese-specific nonsecretor allele (se(fus)). STUDY DESIGN AND METHODS:During the screening of the se(fus) in Mongolians (n = 118), a hybrid allele of Sec1-FUT2-Sec1 was found. RESULTS:The DNA sequence suggested that the Sec1-FUT2-Sec1 allele contains a 275-bp sequence (between positions 259 and 533) that is identical to the FUT2 sequence including a 54-bp FUT2-specific region (between positions 417 and 470) and that might have been generated by an interlocus gene conversion. CONCLUSION:Because the recombination region of se(fus) and the upstream recombination region of Sec1-FUT2-Sec1 are almost identical, this sequence stretch is likely to be the breakpoint for different kinds of recombinations that occur in this family of genes.

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