@article{oai:repo.qst.go.jp:00043365,
 author = {Yamauchi, Masatake and Tsuji, Satsuki and Mita, Kazuei and Saito, Toshiyuki and Morimyo, Mitsuoki and 山内 正剛 and 辻 さつき and 三田 和英 and 齋藤 俊行 and 森明 充興},
 journal = {Genes and Genetic Systems},
 month = {},
 note = {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 uncleotides,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 minisatelite 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-ruch 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 1,000 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.},
 pages = {149--154},
 title = {A novel minisatellite repeat expansion identified at FRA16B in a Japanese carrier},
 year = {2000}
}