Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome

@inproceedings{Cui2011DisruptionOM,
  title={Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome},
  author={Cheng Cui and Bishwanath Chatterjee and Deanne Francis and Qing Yu and Jovenal T Sanagustin and Richard J. B. Francis and Terry Tansey and Charisse Henry and Baolin Wang and Bethan Lemley and Gregory J Pazour and Cecilia W. Lo},
  booktitle={Disease models & mechanisms},
  year={2011}
}
Meckel-Gruber syndrome (MKS) is a recessive disorder resulting in multiple birth defects that are associated with mutations affecting ciliogenesis. We recovered a mouse mutant with a mutation in the Mks1 gene (Mks1(del64-323)) that caused a 260-amino-acid deletion spanning nine amino acids in the B9 domain, a protein motif with unknown function conserved in two other basal body proteins. We showed that, in wild-type cells, Mks1 was localized to the mother centriole from which the cilium was… CONTINUE READING

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