To switch or not to switch: at the origin of repeat expansion disease

Ekaterina V Mirkin; Sergei M Mirkin

doi:10.1016/j.molcel.2013.12.021

To switch or not to switch: at the origin of repeat expansion disease

Mol Cell. 2014 Jan 9;53(1):1-3. doi: 10.1016/j.molcel.2013.12.021.

Authors

Ekaterina V Mirkin¹, Sergei M Mirkin²

Affiliations

¹ Department of Molecular and Cellular Biology, Harvard University, Cambridge, MA 02138, USA.
² Department of Biology, Tufts University, Medford, MA 02155, USA. Electronic address: sergei.mirkin@tufts.edu.

Abstract

Expansions of DNA repeats cause hereditary disorders in humans. Gerhardt et al. (2014) argue that a developmental switch in the direction of DNA replication through the (CGG)n repeat predisposes it to expansions during intergenerational transmissions leading to fragile X syndrome.

Publication types

Review
Comment

MeSH terms

DNA Replication*
Embryonic Stem Cells / metabolism*
Fragile X Mental Retardation Protein / metabolism*
Fragile X Syndrome / embryology*
Genetic Loci*
Humans
Trinucleotide Repeats*

Substances

FMR1 protein, human
Fragile X Mental Retardation Protein

Grants and funding

R01 GM060987/GM/NIGMS NIH HHS/United States