Title
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
Document Type
Article
Publication Date
11-2015
JAX Source
Nat Genet 2015 Nov; 47(11):1260-3.
PMID
26437028
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. Nat Genet 2015 Nov; 47(11):1260-3.
Recommended Citation
Guimier, Anne; Gabriel, George C; Bajolle, Fanny; Tsang, Michael; Liu, Hui; Noll, Aaron; Schwartz, Molly; El Malti, Rajae; Smith, Laurie D; Klena, Nikolai T; Jimenez, Gina; Miller, Neil A; Oufadem, Myriam; Moreau de Bellaing, Anne; Yagi, Hisato; Saunders, Carol J; Baker, Candice N; Di Filippo, Sylvie; Peterson, Kevin A; Thiffault, Isabelle; Bole-Feysot, Christine; Cooley, Linda D; Farrow, Emily G; Masson, Cécile; Schoen, Patric; Deleuze, Jean-François; Nitschké, Patrick; Lyonnet, Stanislas; de Pontual, Loic; Murray, Stephen A.; Bonnet, Damien; Kingsmore, Stephen F; Amiel, Jeanne; Bouvagnet, Patrice; Lo, Cecilia W; and Gordon, Christopher T, "MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates." (2015). Faculty Research 2015. 189.
https://mouseion.jax.org/stfb2015/189