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MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.

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.

SUBMITTER: Guimier A 

PROVIDER: S-EPMC5620017 | biostudies-literature | 2015 Nov

REPOSITORIES: biostudies-literature

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MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.

Guimier Anne A   Gabriel George C GC   Bajolle Fanny F   Tsang Michael M   Liu Hui H   Noll Aaron A   Schwartz Molly M   El Malti Rajae R   Smith Laurie D LD   Klena Nikolai T NT   Jimenez Gina G   Miller Neil A NA   Oufadem Myriam M   Moreau de Bellaing Anne A   Yagi Hisato H   Saunders Carol J CJ   Baker Candice N CN   Di Filippo Sylvie S   Peterson Kevin A KA   Thiffault Isabelle I   Bole-Feysot Christine C   Cooley Linda D LD   Farrow Emily G EG   Masson Cécile C   Schoen Patric P   Deleuze Jean-François JF   Nitschké Patrick P   Lyonnet Stanislas S   de Pontual Loic L   Murray Stephen A SA   Bonnet Damien D   Kingsmore Stephen F SF   Amiel Jeanne J   Bouvagnet Patrice P   Lo Cecilia W CW   Gordon Christopher T CT  

Nature genetics 20151005 11

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  ...[more]

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