| Item type |
学術雑誌論文 / Journal Article_02(1) |
| 公開日 |
2010-06-30 |
| タイトル |
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タイトル |
The role of different X-inactivation pattern on the variable clinical phenotype with Rett syndrome |
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言語 |
en |
| 言語 |
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言語 |
eng |
| 資源タイプ |
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資源タイプ |
journal article |
| 著者 |
石井, 拓磨
Makita, Y
Ogawa, A
Amamiya, S
Yamamoto, M
Miyamoto, A
Oki, J
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| 著者 ローマ字 |
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Ishii, Takuma |
| 著者 ローマ字 |
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en |
| 書誌情報 |
Brain & Development.
巻 23,
号 Suppl 1,
p. S161-S164,
発行日 2001-12-01
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| ISSN |
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収録物識別子タイプ |
ISSN |
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収録物識別子 |
0387-7604 |
| DOI |
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関連タイプ |
isVersionOf |
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識別子タイプ |
DOI |
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関連識別子 |
10.1016/S0387-7604(01)00344-8 |
| リンクURL |
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内容記述タイプ |
Other |
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内容記述 |
http://www.ncbi.nlm.nih.gov/pubmed?term=The%20role%20of%20different%20X-inactivation%20pattern%20on%20the%20variable%20clinical%20phenotype%20with%20Rett%20syndrome | http://www.ncbi.nlm.nih.gov/pubmed?term=The%20role%20of%20different%20X-inactivation%20pattern%20on%20the%20variable%20clinical%20phenotype%20with%20Rett%20syndrome |
| 抄録 |
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内容記述タイプ |
Abstract |
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内容記述 |
A gene for Methyl-CpG binding protein 2 (MECP2), which locates Xq28, was recently found to be responsible for Rett syndrome. Although mutational analyses of MECP2 in Rett syndrome have been extensively analyzed, the mechanism(s) by which variable clinical phenotype occurred between affected monozygotic twins or sisters have not been clarified. We hypothesized that the difference of X-inactivation pattern might explain this phenomenon. With the method based on methylation-specific PCR, we analyzed polymorphic trinucleotide repeat in the human andorogen receptor gene mapped on Xq11.2-12, using DNA samples derived from previously described monozygotic twins and sisters together with their parents. Their clinical phenotypes were reported to be significantly different between siblings. We found that (1) maternally derived allele is predominantly active than paternally derived one in three out of four patients analyzed, (2) remaining one twin patient, whose ratio of active paternal allele is almost the same level as maternal allele, showed far much severe phenotype when compared with her counterpart. Together with the finding that most of the alleles with de novo mutation are from paternal X chromosome in sporadic cases, the existence of a mechanism that suppresses mutated paternal allele activation, resulting skewed X-inactivation to make clinical phenotype milder, might be speculated. Thus, when this mechanism fails to work sufficiently by an unknown reason, severer clinical phenotype could occur.
\nAuthor |
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言語 |
en |
| 資源タイプ |
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内容記述タイプ |
Other |
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資源タイプ |
text |
| 著者版フラグ |
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出版タイプ |
AM |
| フォーマット |
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内容記述タイプ |
Other |
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内容記述 |
application/pdf |
| ID(XooNIps) |
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11738865 |
| 閲覧数(XooNIps) |
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| ダウンロード数(XooNIps) |
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699 |
3077.pdf (187.7 kB)
