Citation:
Nat Genet. 2015 Oct 5. doi: 10.1038/ng.3376. [Epub ahead of print]
Abstract:
Heterotaxy results from a failure to establish normal left-right asymmetry early in embryonic development. By whole-exome sequencing, whole-genome sequencing and high-throughput cohort resequencing, we identified recessive mutations in MMP21 (encoding matrix metallopeptidase 21) in nine index cases with heterotaxy. In addition, Mmp21-mutant mice and mmp21-morphant zebrafish displayed heterotaxy and abnormal cardiac looping, respectively, suggesting a new role for extracellular matrix remodeling in the establishment of laterality in vertebrates.
Epub:
Yes
Link to Publication:
http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3376.html
Organism or Cell Type:
zebrafish