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

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...

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Published inAmerican 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
LanguageEnglish
Published Cambridge, MA Elsevier Inc 08.04.2011
Cell Press
Elsevier
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Abstract 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 of these genes, as well as for more detailed analysis of the underlying developmental defects. The short-rib polydactyly (SRP) group of disorders are among the most severe human phenotypes caused by cilia dysfunction. We mapped the disease locus from two siblings affected by a severe form of SRP to 2p24, where we identified an in-frame homozygous deletion of exon 5 in WDR35. We subsequently found compound heterozygous missense and nonsense mutations in WDR35 in an independent second case with a similar, severe SRP phenotype. In a mouse mutation screen for developmental phenotypes, we identified a mutation in Wdr35 as the cause of midgestation lethality, with abnormalities characteristic of defects in the Hedgehog signaling pathway. We show that endogenous WDR35 localizes to cilia and centrosomes throughout the developing embryo and that human and mouse fibroblasts lacking the protein fail to produce cilia. Through structural modeling, we show that WDR35 has strong homology to the COPI coatamers involved in vesicular trafficking and that human SRP mutations affect key structural elements in WDR35. Our report expands, and sheds new light on, the pathogenesis of the SRP spectrum of ciliopathies.
AbstractList 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 of these genes, as well as for more detailed analysis of the underlying developmental defects. The short-rib polydactyly (SRP) group of disorders are among the most severe human phenotypes caused by cilia dysfunction. We mapped the disease locus from two siblings affected by a severe form of SRP to 2p24, where we identified an in-frame homozygous deletion of exon 5 in WDR35. We subsequently found compound heterozygous missense and nonsense mutations in WDR35 in an independent second case with a similar, severe SRP phenotype. In a mouse mutation screen for developmental phenotypes, we identified a mutation in Wdr35 as the cause of midgestation lethality, with abnormalities characteristic of defects in the Hedgehog signaling pathway. We show that endogenous WDR35 localizes to cilia and centrosomes throughout the developing embryo and that human and mouse fibroblasts lacking the protein fail to produce cilia. Through structural modeling, we show that WDR35 has strong homology to the COPI coatamers involved in vesicular trafficking and that human SRP mutations affect key structural elements in WDR35. Our report expands, and sheds new light on, the pathogenesis of the SRP spectrum of ciliopathies.
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 of these genes, as well as for more detailed analysis of the underlying developmental defects. The short-rib polydactyly (SRP) group of disorders are among the most severe human phenotypes caused by cilia dysfunction. We mapped the disease locus from two siblings affected by a severe form of SRP to 2p24, where we identified an in-frame homozygous deletion of exon 5 in WDR35. We subsequently found compound heterozygous missense and nonsense mutations in WDR35 in an independent second case with a similar, severe SRP phenotype. In a mouse mutation screen for developmental phenotypes, we identified a mutation in Wdr35 as the cause of midgestation lethality, with abnormalities characteristic of defects in the Hedgehog signaling pathway. We show that endogenous WDR35 localizes to cilia and centrosomes throughout the developing embryo and that human and mouse fibroblasts lacking the protein fail to produce cilia. Through structural modeling, we show that WDR35 has strong homology to the COPI coatamers involved in vesicular trafficking and that human SRP mutations affect key structural elements in WDR35. Our report expands, and sheds new light on, the pathogenesis of the SRP spectrum of ciliopathies. [PUBLICATION ABSTRACT]
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 of these genes, as well as for more detailed analysis of the underlying developmental defects. The short-rib polydactyly (SRP) group of disorders are among the most severe human phenotypes caused by cilia dysfunction. We mapped the disease locus from two siblings affected by a severe form of SRP to 2p24, where we identified an in-frame homozygous deletion of exon 5 in WDR35 . We subsequently found compound heterozygous missense and nonsense mutations in WDR35 in an independent second case with a similar, severe SRP phenotype. In a mouse mutation screen for developmental phenotypes, we identified a mutation in Wdr35 as the cause of midgestation lethality, with abnormalities characteristic of defects in the Hedgehog signaling pathway. We show that endogenous WDR35 localizes to cilia and centrosomes throughout the developing embryo and that human and mouse fibroblasts lacking the protein fail to produce cilia. Through structural modeling, we show that WDR35 has strong homology to the COPI coatamers involved in vesicular trafficking and that human SRP mutations affect key structural elements in WDR35. Our report expands, and sheds new light on, the pathogenesis of the SRP spectrum of ciliopathies.
Author Reijns, Martin A.M.
Jackson, Ian J.
Hall, Emma A.
Aftimos, Salim
Savarirayan, Ravi
Mill, Pleasantine
Lockhart, Paul J.
Mountford, Hayley S.
Bahlo, Melanie
Bromhead, Catherine J.
Fitzpatrick, Elizabeth
Amor, David J.
Keighren, Margaret
Delatycki, Martin B.
Budd, Peter
AuthorAffiliation 7 Victoria Clinical Genetics Service, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia
1 Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, Western General Hospital, Edinburgh EH4 2XU, UK
5 Northern Regional Genetic Services, Auckland Hospital, Auckland 1148, New Zealand
2 Bruce Lefroy Center for Genetic Health Research, Murdoch Childrens Research Institute, Parkville, Victoria 3052, Australia
3 Department of Paediatrics, The University of Melbourne, Parkville, Victoria 3052, Australia
4 Bioinformatics Division, The Walter and Eliza Hall Institute, Parkville, Victoria 3052, Australia
6 Clinical Genetics, Austin Health, Heidelberg, Victoria 3081, Australia
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ContentType Journal Article
Copyright 2011 The American Society of Human Genetics
2015 INIST-CNRS
Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
Copyright Cell Press Apr 8, 2011
2011 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2011 The American Society of Human Genetics
Copyright_xml – notice: 2011 The American Society of Human Genetics
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– notice: 2011 The American Society of Human Genetics. Published by Elsevier Ltd. All right reserved. 2011 The American Society of Human Genetics
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Issue 4
Keywords 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)
Language English
License http://creativecommons.org/licenses/by/3.0
CC BY 4.0
Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
https://www.elsevier.com/tdm/userlicense/1.0
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content type line 23
These authors contributed equally to this work
OpenAccessLink https://www.sciencedirect.com/science/article/pii/S0002929711001078
PMID 21473986
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  text: 2011-04-08
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PublicationTitle American journal of human genetics
PublicationTitleAlternate Am J Hum Genet
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Cell Press
Elsevier
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Snippet Defects in cilia formation and function result in a range of human skeletal and visceral abnormalities. Mutations in several genes have been identified to...
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SubjectTerms 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
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Title Human and Mouse Mutations in WDR35 Cause Short-Rib Polydactyly Syndromes Due to Abnormal Ciliogenesis
URI https://dx.doi.org/10.1016/j.ajhg.2011.03.015
https://www.ncbi.nlm.nih.gov/pubmed/21473986
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https://pubmed.ncbi.nlm.nih.gov/PMC3071922
Volume 88
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