Preparation of the gene targeted knockout mice for human premature aging diseases, Werner syndrome, and Rothmund-Thomson syndrome caused by the mutation of DNA helicases.
Open Access
- 1 January 2002
- journal article
- abstracts
- Published by Japanese Pharmacological Society in Folia Pharmacologica Japonica
- Vol. 119 (4), 219-226
- https://doi.org/10.1254/fpj.119.219
Abstract
筆者らは，ヒト早老化症状の原因となる遺伝子の研究を行い，その結果，ウエルナー症候群やロスムンド·トムソン症候群というヒト遺伝性早老症ではDNAヘリカーゼをコードする単一遺伝子の欠損が原因であることを明らかにしてきた．これらの早老症では，ゲノムの不安定化が組織·臓器特異的に起こり，そのために若年であってもいわゆる老化徴候とみられる症状を表わす．こと老化に関しては，種を越えて論じることは難しいことを意識しつつも，我々は早老症実験動物を得る目的で，ヘリカーゼ遺伝子をノックアウトしたマウスを作る努力を続けて来た．本稿では，ウエルナー症候群やロスムンド·トムソン症候群の原因となるDNAヘリカーゼ2種に関する遺伝子改変マウス作製への我々の試みについて述べるとともに，同様にDNAヘリカーゼが原因であり，ゲノムの不安定化を伴うブルーム症候群の遺伝子改変マウスについても紹介する．This publication has 18 references indexed in Scilit:
- Diverged nuclear localization of Werner helicase in human and mouse cellsOncogene, 2001
- Stage-specific apoptosis, developmental delay, and embryonic lethality in mice homozygous for a targeted disruption in the murine Bloom’s syndrome geneGenes & Development, 1998
- Impaired nuclear localization of defective DNA helicases in Werner's syndromeNature Genetics, 1997
- Cloning of a Mouse Homologue of the Human Werner Syndrome Gene and Assignment to 8A4 by Fluorescencein SituHybridizationGenomics, 1997
- Analysis of helicase gene mutations in Japanese Werner's syndrome patientsHuman Genetics, 1997
- Positional Cloning of the Werner's Syndrome GeneScience, 1996
- Rothmund‐Thomson syndrome in siblings: evidence for acquired in vivo mosaicismClinical Genetics, 1996
- The Bloom's syndrome gene product is homologous to RecQ helicasesCell, 1995
- Genetic linkage of Werner's syndrome to five markers on chromosome 8Nature, 1992
- Isolation and genetic characterization of a thymineless death-resistant mutant of Escherichia coli K12: Identification of a new mutation (recQ1) that blocks the RecF recombination pathwayMolecular Genetics and Genomics, 1984