MMP21 is mutated in human heterotaxy and is required for normal left-right asymmetry in vertebrates.
Nat. Genet.2015 Nov;47(11):1260-3. Epub 2015 Oct 05
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摘要
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.
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基因功能
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原始数据
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文献解读
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