脆性X相关疾病中的重复序列不稳定性：来自小鼠模型的经验教训。

Repeat Instability in the Fragile X-Related Disorders: Lessons from a Mouse Model.

作者信息

Zhao Xiaonan, Gazy Inbal, Hayward Bruce, Pintado Elizabeth, Hwang Ye Hyun, Tassone Flora, Usdin Karen

机构信息

Section on Gene Structure and Disease, Laboratory of Cell and Molecular Biology, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

Department of Medical Biochemistry and Molecular Biology, School of Medicine, University Hospital Virgen Macarena, University of Seville, 41009 Seville, Spain.

出版信息

Brain Sci. 2019 Mar 1;9(3):52. doi: 10.3390/brainsci9030052.

The fragile X-related disorders (FXDs) are a group of clinical conditions that result primarily from an unusual mutation, the expansion of a CGG-repeat tract in exon 1 of the gene. Mouse models are proving useful for understanding many aspects of disease pathology in these disorders. There is also reason to think that such models may be useful for understanding the molecular basis of the unusual mutation responsible for these disorders. This review will discuss what has been learnt to date about mechanisms of repeat instability from a knock-in FXD mouse model and what the implications of these findings may be for humans carrying expansion-prone alleles.