A novel minisatellite repeat expansion identified at FRA16B in a Japanese carrier.

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  • Yamauchi Masatake
    Genome Research Group, National Institute of Radiological Sciences
  • Tsuji Satsuki
    Genome Research Group, National Institute of Radiological Sciences
  • Mita Kazuei
    Genome Research Group, National Institute of Radiological Sciences
  • Saito Toshiyuki
    Genome Research Group, National Institute of Radiological Sciences
  • Morimyo Mitsuoki
    Genome Research Group, National Institute of Radiological Sciences

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  • novel minisatellite repeat expansion identified at FRA16B in a Japanese carrier

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Previously, the allelic expansion of a 33-bp AT-rich minisatellite repeat has been reported to cause FRA16B, a distamycin A-inducible fragile site. Here, we identified a novel 35-bp minisatellite repeat at FRA16B in a Japanese carrier. The nucleotide sequence of the 35-bp minisatellite was highly AT-rich and nearly identical to the 33-bp one but with insertion of two nucleotides, thymine and adenine. The copy number of the AT-rich minisatellite was 21 in total in the carrier, while only a few copies of the 33-bp minisatellite were present in a non-carrier Japanese subject. These results suggest that the molecular mechanism involved in the allelic expansion of the minisatellite repeat in FRA16B recognizes both minisatellites, the 33-bp one and the 35-bp one, as an amplicon. These observations were different from the ones at folate-sensitive fragile sites, where the CCG triplet repeat was commonly involved in the allelic expansion. Although a slight reduction in AT content (95%>90%) in the region of minisatellite expansion in the carrier subject was observed, both AT-content and length of the highly AT-rich region seem to play important roles in the cytogenetic expression of the distamycin A-inducible fragile site. In another normal subject, without fragile site expression, allelic expansion involving the 33-bp minisatellite was observed, and the length of the AT-rich DNA region was increased up to ~1000 bp. Since the length of the AT-rich minisatellite region was increased up to ~1,100-bp in the carrier subject, the threshold length for the cytogenetic expression of the AT-rich DNA region may be between about 1,000-bp and 1,100-bp.<br>

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