通过细胞重编程深入研究重复扩展。
Getting to the core of repeat expansions by cell reprogramming.
机构信息
Department of Biology, Tufts University, Medford, MA 02155, USA.
出版信息
Cell Stem Cell. 2010 Nov 5;7(5):545-6. doi: 10.1016/j.stem.2010.10.005.
Abstract
In this issue of Cell Stem Cell, Ku et al. (2010) demonstrate that iPSCS derived from Friedreich's ataxia patients exhibit expansion of the causative (GAA)(n) repeat, consistent with the repeat instability observed during intergenerational transmissions in humans. Furthermore, the epigenetic signature of the disease remains intact in Friedreich's ataxia iPSCs.
摘要
在本期《细胞干细胞》中，Ku 等人（2010）表明，源自弗里德里希共济失调患者的诱导多能干细胞（iPSC）表现出致病（GAA）（n）重复序列的扩增，与人类世代间传递过程中观察到的重复不稳定一致。此外，弗里德里希共济失调 iPSC 中疾病的表观遗传特征保持完整。
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本文引用的文献
1
A distinct first replication cycle of DNA introduced in mammalian cells.
Nucleic Acids Res. 2011 Mar;39(6):2103-15. doi: 10.1093/nar/gkq903. Epub 2010 Nov 9.
2
Friedreich's ataxia induced pluripotent stem cells model intergenerational GAA⋅TTC triplet repeat instability.
Cell Stem Cell. 2010 Nov 5;7(5):631-7. doi: 10.1016/j.stem.2010.09.014.
3
Huntington's and myotonic dystrophy hESCs: down-regulated trinucleotide repeat instability and mismatch repair machinery expression upon differentiation.
Hum Mol Genet. 2011 Jan 1;20(1):176-85. doi: 10.1093/hmg/ddq456. Epub 2010 Oct 8.
4
Differential modeling of fragile X syndrome by human embryonic stem cells and induced pluripotent stem cells.
Cell Stem Cell. 2010 May 7;6(5):407-11. doi: 10.1016/j.stem.2010.04.005.
5
Progressive GAA.TTC repeat expansion in human cell lines.
PLoS Genet. 2009 Oct;5(10):e1000704. doi: 10.1371/journal.pgen.1000704. Epub 2009 Oct 30.
6
Transcription-coupled DNA repair: two decades of progress and surprises.
Nat Rev Mol Cell Biol. 2008 Dec;9(12):958-70. doi: 10.1038/nrm2549.
7
Chromatin remodeling in the noncoding repeat expansion diseases.
J Biol Chem. 2009 Mar 20;284(12):7413-7. doi: 10.1074/jbc.R800026200. Epub 2008 Oct 28.
8
Hijacking of the mismatch repair system to cause CAG expansion and cell death in neurodegenerative disease.
DNA Repair (Amst). 2008 Jul 1;7(7):1121-34. doi: 10.1016/j.dnarep.2008.03.013. Epub 2008 May 9.
9
Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia.
Hum Mol Genet. 1998 Nov;7(12):1901-6. doi: 10.1093/hmg/7.12.1901.
10
Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.
Science. 1996 Mar 8;271(5254):1423-7. doi: 10.1126/science.271.5254.1423.
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