| First Author | Peier AM | Year | 2002 |
| Journal | Genomics | Volume | 80 |
| Issue | 4 | Pages | 423-32 |
| PubMed ID | 12376097 | Mgi Jnum | J:127935 |
| Mgi Id | MGI:3765231 | Doi | 10.1006/geno.2002.6849 |
| Citation | Peier AM, et al. (2002) Instability of a premutation-sized CGG repeat in FMR1 YAC transgenic mice. Genomics 80(4):423-32 |
| abstractText | Fragile X syndrome results from the massive expansion of a CGG repeat in the 5' untranslated region of the gene FMR1. Data suggest that the hyperexpansion properties of FMR1 CGG repeats may depend on flanking cis-acting elements. We have therefore used homologous recombination in yeast to introduce an in situ CGG expansion corresponding to a premutation-sized allele into a human YAC carrying the FMR1 locus. Several transgenic lines were generated that carried repeats of varying lengths and amounts of flanking sequence. Length-dependent instability in the form of small expansions and contractions was observed in both male and female transmissions over five generations. No parent-of-origin effect or somatic instability was observed. Alterations in tract length were found to occur exclusively in the 3' uninterrupted CGG tract. Large expansion events indicative of a transition from a premutation to a full mutation were not observed. Overall, our results indicate both similarities and differences between the behavior of a premutation-sized repeat in mouse and that in human. |
