Congenital myotonic dystrophy-an RNA-mediated disease across a developmental continuum

Sujatha Jagannathan; Robert K Bradley

doi:10.1101/gad.302893.117

Congenital myotonic dystrophy-an RNA-mediated disease across a developmental continuum

Genes Dev. 2017 Jun 1;31(11):1067-1068. doi: 10.1101/gad.302893.117.

Authors

Sujatha Jagannathan^{1

2

3}, Robert K Bradley^{1

2}

Affiliations

¹ Computational Biology Program, Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.
² Basic Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.
³ Human Biology Division, Fred Hutchinson Cancer Research Center, Seattle, Washington 98109, USA.

Abstract

Thomas and colleagues (pp. 1122-1133) demonstrate severe dysregulation of developmentally regulated alternative splicing and polyadenylation in congenital myotonic dystrophy (CDM). In doing so, they also highlight the importance of these post-transcriptional processes during normal fetal muscle development. Finally, they generate and characterize a mouse model of CDM that lacks all three Muscleblind-like proteins.

Keywords: MBNL; RNA processing; congenital myotonic dystrophy; microsatellite; myoblast; myogenesis.

Publication types

Comment

MeSH terms

Alternative Splicing
Animals
Myotonic Dystrophy*
RNA Splicing
RNA*
RNA-Binding Proteins / genetics

Substances

RNA-Binding Proteins
RNA

Grants and funding

P01 NS069539/NS/NINDS NIH HHS/United States