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

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 matrix metallopeptidase 21 (MMP21), in nine index cases with hete...

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Detalles Bibliográficos
Autores principales: 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., Gordon, Christopher T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5620017/
https://www.ncbi.nlm.nih.gov/pubmed/26437028
http://dx.doi.org/10.1038/ng.3376
Descripción
Sumario: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 matrix metallopeptidase 21 (MMP21), in nine index cases with heterotaxy. In addition, Mmp21 mutant mice and morphant zebrafish display heterotaxy and abnormal cardiac looping, respectively, suggesting a novel role for extra-cellular remodeling in the establishment of laterality in vertebrates.

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