PUBLICATION

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

Authors
Guimier, A., Gabriel, G.C., Bajolle, F., Tsang, M., Liu, H., Noll, A., Schwartz, M., El Malti, R., Smith, L.D., Klena, N.T., Jimenez, G., Miller, N.A., Oufadem, M., Moreau de Bellaing, A., Yagi, H., Saunders, C.J., Baker, C.N., Di Filippo, S., Peterson, K.A., Thiffault, I., Bole-Feysot, C., Cooley, L.D., Farrow, E.G., Masson, C., Schoen, P., Deleuze, J.F., Nitschké, P., Lyonnet, S., de Pontual, L., Murray, S.A., Bonnet, D., Kingsmore, S.F., Amiel, J., Bouvagnet, P., Lo, C.W., Gordon, C.T.
ID
ZDB-PUB-151006-2
Date
2015
Source
Nature Genetics   47(11): 1260-3 (Journal)
Registered Authors
Gordon, Chris, Lo, Cecilia, Tsang, Michael
Keywords
Medical genetics, Organogenesis
MeSH Terms
  • Zebrafish/embryology
  • Zebrafish/genetics
  • Body Patterning/genetics*
  • Heart Defects, Congenital/genetics
  • Sequence Analysis, DNA/methods
  • Animals
  • Male
  • Heterotaxy Syndrome/genetics*
  • Zebrafish Proteins/genetics
  • Female
  • Genes, Recessive
  • Point Mutation*
  • Humans
  • Pedigree
  • In Situ Hybridization
  • Gene Expression Regulation, Developmental
  • Vertebrates/genetics*
  • Mice
  • Matrix Metalloproteinases, Secreted/genetics*
  • Embryo, Nonmammalian/embryology
  • Embryo, Nonmammalian/metabolism
  • Family Health
  • Heart/embryology
(all 23)
PubMed
26437028 Full text @ Nat. Genet.
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.
Genes / Markers
Figures
No images available
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Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping
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Citation
Guimier, A., Gabriel, G.C., Bajolle, F., Tsang, M., Liu, H., Noll, A., Schwartz, M., El Malti, R., Smith, L.D., Klena, N.T., Jimenez, G., Miller, N.A., Oufadem, M., Moreau de Bellaing, A., Yagi, H., Saunders, C.J., Baker, C.N., Di Filippo, S., Peterson, K.A., Thiffault, I., Bole-Feysot, C., Cooley, L.D., Farrow, E.G., Masson, C., Schoen, P., Deleuze, J.F., Nitschké, P., Lyonnet, S., de Pontual, L., Murray, S.A., Bonnet, D., Kingsmore, S.F., Amiel, J., Bouvagnet, P., Lo, C.W., Gordon, C.T. (2015) MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates. Nature Genetics. 47(11):1260-3.