Disruption of a Ciliary B9 Protein Complex Causes Meckel Syndrome

(The American Journal of Human Genetics 89, 94–110; July 15, 2011) Norann A. Zaghloul's name was misspelled in the original author list. It has been corrected here. The authors regret the error. Disruption of a Ciliary B9 Protein Complex Causes Meckel SyndromeDowdle et al.The American Journal of Human GeneticsJuly 15, 2011In BriefNearly every ciliated organism possesses three B9 domain-containing proteins: MKS1, B9D1, and B9D2. Mutations in human MKS1 cause Meckel syndrome (MKS), a severe ciliopathy characterized by occipital encephalocele, liver ductal plate malformations, polydactyly, and kidney cysts. Mouse mutations in either Mks1 or B9d2 compromise ciliogenesis and result in phenotypes similar to those of MKS. Given the importance of these two B9 proteins to ciliogenesis, we examined the role of the third B9 protein, B9d1. Full-Text PDF Open Archive