@article {35,
	title = {IFT52 mutations destabilize anterograde complex assembly, disrupt ciliogenesis and result in short rib polydactyly syndrome.},
	journal = {Hum Mol Genet},
	volume = {25},
	year = {2016},
	month = {2016 Sep 15},
	pages = {4012-4020},
	abstract = {<p>The short-rib polydactyly syndromes (SRPS) encompass a radiographically and genetically heterogeneous group of skeletal ciliopathies that are characterized by a long narrow chest, short extremities, and variable occurrence of polydactyly. Radiographic abnormalities include undermineralization of the calvarium, shortened and bowed appendicular bones, trident shaped acetabula and polydactyly. In a case of SRPS we identified compound heterozygosity for mutations in IFT52, which encodes a component of the anterograde intraflagellar transport complex. The IFT52 mutant cells synthesized a significantly reduced amount of IFT52 protein, leading to reduced synthesis of IFT74, IFT81, IFT88 and ARL13B, other key anterograde complex members. Ciliogenesis was also disrupted in the mutant cells, with a 60\% reduction in the presence of cilia on mutant cells and loss of cilia length regulation for the cells with cilia. These data demonstrate that IFT52 is essential for anterograde complex integrity and for the biosynthesis and maintenance of cilia. The data identify a new locus for SRPS and show that IFT52 mutations result in a ciliopathy with primary effects on the skeleton.</p>},
	keywords = {Carrier Proteins, Cilia, Ciliopathies, Cytoskeletal Proteins, Flagella, Humans, Intracellular Signaling Peptides and Proteins, Multiprotein Complexes, Muscle Proteins, Mutation, Short Rib-Polydactyly Syndrome, Skeleton, Tumor Suppressor Proteins},
	issn = {1460-2083},
	doi = {10.1093/hmg/ddw241},
	author = {Zhang, Wenjuan and Taylor, S Paige and Nevarez, Lisette and Lachman, Ralph S and Nickerson, Deborah A and Bamshad, Michael and Krakow, Deborah and Cohn, Daniel H}
}
@article {156,
	title = {Mutations in DYNC2LI1 disrupt cilia function and cause short rib polydactyly syndrome.},
	journal = {Nat Commun},
	volume = {6},
	year = {2015},
	month = {2015 Jun 16},
	pages = {7092},
	abstract = {<p>The short rib polydactyly syndromes (SRPSs) are a heterogeneous group of autosomal recessive, perinatal lethal skeletal disorders characterized primarily by short, horizontal ribs, short limbs and polydactyly. Mutations in several genes affecting intraflagellar transport (IFT) cause SRPS but they do not account for all cases. Here we identify an additional SRPS gene and further unravel the functional basis for IFT. We perform whole-exome sequencing and identify mutations in a new disease-producing gene, cytoplasmic dynein-2 light intermediate chain 1, DYNC2LI1, segregating with disease in three families. Using primary fibroblasts, we show that DYNC2LI1 is essential for dynein-2 complex stability and that mutations in DYNC2LI1 result in variable length, including hyperelongated, cilia, Hedgehog pathway impairment and ciliary IFT accumulations. The findings in this study expand our understanding of SRPS locus heterogeneity and demonstrate the importance of DYNC2LI1 in dynein-2 complex stability, cilium function, Hedgehog regulation and skeletogenesis. </p>},
	keywords = {Biological Transport, Cilia, Cytoplasmic Dyneins, Cytoskeleton, Female, Fibroblasts, Flagella, Hedgehog Proteins, Humans, Male, Mutation, Pedigree, Short Rib-Polydactyly Syndrome},
	issn = {2041-1723},
	doi = {10.1038/ncomms8092},
	author = {Taylor, S Paige and Dantas, Tiago J and Duran, Ivan and Wu, Sulin and Lachman, Ralph S and Nelson, Stanley F and Cohn, Daniel H and Vallee, Richard B and Krakow, Deborah}
}
