2005 Fiscal Year Final Research Report Summary
Etiology of the translocation mediated by cruciform DNA
| Project/Area Number |
16390102
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| Research Category |
Grant-in-Aid for Scientific Research (B)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Human genetics
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| Research Institution | Fujita Health University |
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Principal Investigator |
KURAHASHI Hiroki Fujita Health University, Institute for Comprehensive Medical Science, Professor, 総合医科学研究所, 教授 (30243215)
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| Project Period (FY) |
2004 – 2005
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| Keywords | chromosome / translocation / breakpoint / palindrome / cruciform / chromosome 11 / chromosome 22 / t(11;22) |
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| Research Abstract |
Constitutional t(11;22) is the only known recurrent non-Robertsonian translocation in humans. The breakpoints of t(11;22) are located within palindromic AT-rich repeats (PATRRs) on 11q23 and 22q11. I proposed that the PATRR forms cruciform structure that induces genomic instability leading to the translocation. In this study, I analyzed the tertiary structure of the cloned PATRR of chromosome 11. I demonstrated that the PATRR formed cruciform structure in vitro using 2-dimensional agarose gel electrophoresis, nuclease sensitivity assay, electrophoresis mobility shift assay, and atomic force microscopy (J Biol Chem, 2004). The sequence analysis of the PATRR is difficult because of its potential secondary structure. I optimized the PCR, sequencing, and cloning condition to overcome the difficulty and analyzed polymorphism of the PATRR successfully (Hum Mutat, 2005). Using translocation-specific PCR, I detected de novo t(11;22) at high frequency in sperm samples obtained from normal healthy individuals. I also demonstrated that the polymorphism of the PATRR affects the frequency of de novo translocation (Science, 2006). These observations added support to my hypothesis for mechanism of palindrome-mediated translocation.
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[Journal Article] Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-α2 deficient congenital muscular dystrophy ; is congenital muscular dystrophy a primary fibrotic disease?2006
Author(s)
Taniguchi M, Kurahashi H, Noguchi S, Sese J, Okinaga T, Tsukahara T, Guicheney P, Ozono K, Nishino I, Morishita S, Toda T.
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Journal Title
Biochemical and Biophysical Research Communication 342(2)
Pages: 489-502
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] Molecular analysis of a mouse orthologue of HSFY, a candidate for the azoospermic factor on the human Y chromosome2006
Author(s)
Kinoshita K, Shinka T, Sato Y, Kurahashi H, Kowa H, Chen G, Umeno M, Toida K, Kiyokage E, Nakano T, Ito S, Nakahori Y.
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Journal Title
Journal of Medical Investigation 53(1-2)
Pages: 117-122
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] Aberrant neuromuscular junctions and delayed terminal muscle fiber maturation in α-dystroglycanopathies
Author(s)
Taniguchi M, Kurahashi H, Noguchi S, Fukudome T, Okinaga T, Tsukahara T, Tajima Y, Ozono K, Nishino I, Nonaka I, Toda T
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Journal Title
Human Molecular Genetics (In press)
Description
「研究成果報告書概要(欧文)」より
