Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis

• Published in: American journal of human genetics Vol. 88; no. 4; pp. 508 - 515
• Main Authors: Mill, Pleasantine, Lockhart, Paul J., Fitzpatrick, Elizabeth, Mountford, Hayley S., Hall, Emma A., Reijns, Martin A.M., Keighren, Margaret, Bahlo, Melanie, Bromhead, Catherine J., Budd, Peter, Aftimos, Salim, Delatycki, Martin B., Savarirayan, Ravi, Jackson, Ian J., Amor, David J.
• Format: Journal Article
• Language: English
• Published: Cambridge, MA Elsevier Inc 08.04.2011; Cell Press; Elsevier
• Subjects: Amino Acid Sequence; Animals; Biological and medical sciences; Cell division; Chromosome Mapping; Cilia - genetics; Cilia - physiology; Coat Protein Complex I - chemistry; Coat Protein Complex I - genetics; Codon, Nonsense; Cytoskeletal Proteins; Diseases of the osteoarticular system; Embryonic Development - genetics; Eukaryotes; Female; Fundamental and applied biological sciences. Psychology; General aspects. Genetic counseling; Genetics; Genetics of eukaryotes. Biological and molecular evolution; Genotype & phenotype; Hedgehog Proteins; Heterozygote; Homozygote; Humans; Intracellular Signaling Peptides and Proteins; Male; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical genetics; Medical sciences; Mice; Mice, Mutant Strains; Models, Molecular; Molecular and cellular biology; Molecular Sequence Data; Mutant Proteins - chemistry; Mutant Proteins - genetics; Mutation; Mutation, Missense; Pathogenesis; Phenotype; Pregnancy; Proteins - chemistry; Proteins - genetics; Rodents; Sequence Deletion; Sequence Homology, Amino Acid; Short Rib-Polydactyly Syndrome - embryology; Short Rib-Polydactyly Syndrome - genetics; Short Rib-Polydactyly Syndrome - physiopathology; Human; Diseases of the osteoarticular system; Rodentia; Dysostosis; Congenital disease; Vertebrata; Mammalia; Mouse; Malformation; Disease of the hand; Animal; Polydactyly; Genetics; Upper limb; Mutation; Rib (bone)

Defects in cilia formation and function result in a range of human skeletal and visceral abnormalities. Mutations in several genes have been identified to cause a proportion of these disorders, some of which display genetic (locus) heterogeneity. Mouse models are valuable for dissecting the function...