Article
Disruption of Mks1 localization to the mother centriole causes cilia defects and developmental malformations in Meckel-Gruber syndrome.
Disease models & mechanisms - 1 Jan 2011
Cui Cheng, Chatterjee Bishwanath, Francis Deanne, Yu Qing, SanAgustin Jovenal T, Francis Richard, Tansey Terry, Henry Charisse, Wang Baolin, Lemley Bethan, Pazour Gregory J, Lo Cecilia W
Abstract excerpt
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...
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