Instability of CGG repeats in transgenic mice

被引：8

作者：

Baskaran, S

Datta, S

Mandal, A

Gulati, N

Totey, SM

Anand, RR

Brahmachari, V ^{[1
]}

机构：

[1] Indian Inst Sci, Dept Mol Reprod Dev & Genet, Bangalore 560012, Karnataka, India

[2] Univ Delhi, Dr BR Ambedkar Ctr Biomed Res, Delhi 110007, India

[3] Natl Inst Immunol, New Delhi 110067, India

来源：

GENOMICS | 2002年 / 80卷 / 02期

关键词：

CGG repeats; fragile X syndrome; instability; transgenic mice;

D O I：

10.1006/geno.2002.6813

中图分类号：

Q81 [生物工程学（生物技术）]; Q93 [微生物学];

学科分类号：

071005 ; 0836 ; 090102 ; 100705 ;

摘要：

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.

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页码：151 / 157

页数：7

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