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Phil Beales and colleagues show that mutations in the lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome, a disorder that includes craniofacial defects, learning disability and other developmental phenotypes. They also present evidence that the COLEC11 gene product serves as a guidance cue for neural crest cell migration.
Nicholas Katsanis and colleagues show that biallelic mutations in TTC21B, encoding the retrograde intraflagellar transport protein IFT139, are associated with diverse ciliopathy phenotypes in humans. They further show that pathogenic alleles of TTC21B are present in as many as 5% of ciliopathy cases, supporting an oligogenic model of disease.
Antonio Giraldez and colleagues report that miRNA-mediated regulation of the sdf1 chemokine signaling pathway in zebrafish provides genetic robustness to germ cell migration.
