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Instability of CGG Repeats in Transgenic Mice

Baskaran, Sujatha and Datta, Sonal and Mandal, Arundhati and Gulati, Neerja and Totey, Satish M and Anand, Rajesh R and Brahmachari, Vani (2002) Instability of CGG Repeats in Transgenic Mice. In: Genomics, 80 (2). pp. 151-157.

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Dynamic mutation resulting in the expansion of CGG repeats in the untranslated region (UTR) of the first exon of the FMR1 gene in humans results in fragile X syndrome. Long stretches of CGG repeats that are known to be highly unstable in humans have so far failed to show similar intergenerational instability in transgenic mice. We generated transgenic lines that show a dramatic increase from 26 to >300 repeats in three generations. One of the salient features of our transgene is the inclusion of the origin of replication of simian virus-40 (SV40), which is known to exclude nucleosomes. Three founder mice in FVB/NJ background show expansion of CGG repeats present in the transgene, supporting a postzygotic mechanism for CGG expansion that is independent of a genomic imprinting effect. We discuss here the results of analyzing one of the lines established.

Item Type: Journal Article
Publication: Genomics
Publisher: Elsevier Science
Additional Information: Copyright of this article belongs to Elsevier Science.
Keywords: CGG repeats;fragile X syndrome;instability;transgenic mice
Department/Centre: Division of Biological Sciences > Molecular Reproduction, Development & Genetics
Date Deposited: 15 Nov 2007
Last Modified: 19 Sep 2010 04:40
URI: http://eprints.iisc.ac.in/id/eprint/12285

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