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.
Volume
47
Issue
11
First Page
1260
Last Page
1263
ISSN
1546-1718
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 A,
Gabriel G,
Bajolle F,
Tsang M,
Liu H,
Noll A,
Schwartz M,
El Malti R,
Smith L,
Klena N,
Jimenez G,
Miller N,
Oufadem M,
Moreau de Bellaing A,
Yagi H,
Saunders C,
Baker C,
Di Filippo S,
Peterson K,
Thiffault I,
Bole-Feysot C,
Cooley L,
Farrow E,
Masson C,
Schoen P,
Deleuze J,
Nitschké P,
Lyonnet S,
de Pontual L,
Murray SA,
Bonnet D,
Kingsmore S,
Amiel J,
Bouvagnet P,
Lo C,
Gordon C.
MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates. Nat Genet 2015 Nov; 47(11):1260-3.