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A novel minisatellite repeat expansion identified at FRA16B in a Japanese carrier
https://repo.qst.go.jp/records/43365
https://repo.qst.go.jp/records/43365850481b2-d61f-485c-b59f-550f3569814d
| Item type | 学術雑誌論文 / Journal Article(1) | |||||
|---|---|---|---|---|---|---|
| 公開日 | 2004-03-18 | |||||
| タイトル | ||||||
| タイトル | A novel minisatellite repeat expansion identified at FRA16B in a Japanese carrier | |||||
| 言語 | ||||||
| 言語 | eng | |||||
| 資源タイプ | ||||||
| 資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
| 資源タイプ | journal article | |||||
| アクセス権 | ||||||
| アクセス権 | metadata only access | |||||
| アクセス権URI | http://purl.org/coar/access_right/c_14cb | |||||
| 著者 |
Yamauchi, Masatake
× Yamauchi, Masatake× Tsuji, Satsuki× Mita, Kazuei× Saito, Toshiyuki× Morimyo, Mitsuoki× 山内 正剛× 辻 さつき× 三田 和英× 齋藤 俊行× 森明 充興 |
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| 抄録 | ||||||
| 内容記述タイプ | Abstract | |||||
| 内容記述 | 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. | |||||
| 書誌情報 |
Genes and Genetic Systems p. 149-154, 発行日 2000 |
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| ISSN | ||||||
| 収録物識別子タイプ | ISSN | |||||
| 収録物識別子 | 1341-7568 | |||||
