A potential contributory role for ciliary dysfunction in the 16p11.2 600 kb BP4-BP5 pathology

American Journal of Human Genetics

Volumn 96, Issue 5, 2015, Pages 784-796

  Migliavacca, Eugenia ^a,b   Golzio, Christelle ^c   Männik, Katrin ^a,d   Blumenthal, Ian ^e   Oh, Edwin C ^c   Harewood, Louise ^a,k   Kosmicki, Jack A ^f,g   Loviglio, Maria Nicla ^a   Giannuzzi, Giuliana ^a   Hippolyte, Loyse ^h   Maillard, Anne M ^h   Alfaiz, Ali Abdullah ^a,b   Witwicki, Robert ^l   Didelot, Gérard ^l   Van Der Werf, Ilse ^l   Alfaiz, Ali A ^l   Zazhytska, Marianna ^l   Chrast, Jacqueline ^l   Macé, Aurélien ^l   Bergmann, Sven ^l   Kutalik, Zoltan ^l   Siffredi, Vanessa ^l   Zufferey, Flore ^l   Martinet, Danielle ^l   Bena, Frédérique ^l   Rauch, Anita ^l   Bouquillon, Sonia ^l   Delobel, Bruno ^l   Boute, Odile ^l   Duban Bedu, Bénédicte ^l   Le Caignec, Cédric ^l   Isidor, Bertrand ^l   Chiesa, Jean ^l   Keren, Boris ^l   Gilbert Dussardier, Brigitte ^l   Touraine, Renaud ^l   Campion, Dominique ^l   Thambo, Caroline Rooryck ^l   Mathieu Dramard, Michèle ^l   Plessis, Ghislaine ^l   Kooy, Frank ^l   Peeters, Hilde ^l   Ounap, Katrin ^l   Vulto Van Silfhout, Anneke T ^l   De Vries, Bert B ^l   Van Binsbergen, Ellen ^l   Nordgren, Ann ^l   Mucciolo, Mafalda ^l   Renieri, Alessandra ^l   Rajcan Separovic, Evica ^l   Philipps, John A ^l   Ellis, Richard J ^l   Van Haelst, Mieke M ⁱ   Andrieux, Joris ^j   Gusella, James F ^e,f   Daly, Mark J ^f,g   Beckmann, Jacques S ^a,b,h   Jacquemont, Sébastien ^h   Talkowski, Michael E ^e,f   Katsanis, Nicholas ^c   Reymond, Alexandre ^a   more..

^a UNIVERSITY OF LAUSANNE   (Switzerland)

^b SWISS INSTITUTE OF BIOINFORMATICS   (Switzerland)

^c DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF TARTU   (Estonia)

^e MASSACHUSETTS GENERAL HOSPITAL   (United States)

^f HARVARD MEDICAL SCHOOL   (United States)

^g BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^h LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

ⁱ UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^j LILLE UNIVERSITY HOSPITAL   (France)

^k BABRAHAM INSTITUTE   (United Kingdom)

^l NONE

more..

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTOME; KCTD15 PROTEIN, ZEBRAFISH; VOLTAGE GATED POTASSIUM CHANNEL; ZEBRAFISH PROTEIN;

ANIMAL TISSUE; ARTICLE; CHILD; CHROMOSOME 16P; CHROMOSOME DUPLICATION; CILIARY DYSFUNCTION; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE ASSOCIATION; ENDOPHENOTYPE; EUKARYOTIC FLAGELLUM; FEMALE; GENE EXPRESSION; GENE INTERACTION; GENE OVEREXPRESSION; GENETIC ASSOCIATION; HEART ATRIUM SEPTUM DEFECT; HIPPOCAMPAL CA1 REGION; HUMAN; MOUSE; NEUROANATOMY; NONHUMAN; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RESCUE PERSONNEL; ZEBRA FISH; ANIMAL; AUTISM; BRAIN; CHROMOSOME 16; CHROMOSOME DELETION; CILIARY BODY; GENE EXPRESSION REGULATION; GENETICS; METABOLISM; PATHOLOGY; SCHIZOPHRENIA;

DANIO RERIO; MUS;

ANIMALS; BRAIN; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 16; CILIARY BODY; DNA COPY NUMBER VARIATIONS; GENE EXPRESSION REGULATION; HUMANS; MICE; POTASSIUM CHANNELS, VOLTAGE-GATED; SCHIZOPHRENIA; TRANSCRIPTOME; ZEBRAFISH; ZEBRAFISH PROTEINS;

EID: 84929997450     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.04.002     Document Type: Article

References (86)

1. L.A. Weiss, Y. Shen, J.M. Korn, D.E. Arking, D.T. Miller, R. Fossdal, E. Saemundsen, H. Stefansson, M.A. Ferreira, T. Green Autism Consortium Association between microdeletion and microduplication at 16p11.2 and autism N. Engl. J. Med. 358 2008 667 675
2. J.T. Glessner, K. Wang, G. Cai, O. Korvatska, C.E. Kim, S. Wood, H. Zhang, A. Estes, C.W. Brune, and J.P. Bradfield Autism genome-wide copy number variation reveals ubiquitin and neuronal genes Nature 459 2009 569 573
3. C.R. Marshall, A. Noor, J.B. Vincent, A.C. Lionel, L. Feuk, J. Skaug, M. Shago, R. Moessner, D. Pinto, and Y. Ren Structural variation of chromosomes in autism spectrum disorder Am. J. Hum. Genet. 82 2008 477 488
4. E.G. Bochukova, N. Huang, J. Keogh, E. Henning, C. Purmann, K. Blaszczyk, S. Saeed, J. Hamilton-Shield, J. Clayton-Smith, and S. O'Rahilly Large, rare chromosomal deletions associated with severe early-onset obesity Nature 463 2010 666 670
5. R.G. Walters, S. Jacquemont, A. Valsesia, A.J. de Smith, D. Martinet, J. Andersson, M. Falchi, F. Chen, J. Andrieux, and S. Lobbens A new highly penetrant form of obesity due to deletions on chromosome 16p11.2 Nature 463 2010 671 675
6. S. Jacquemont, A. Reymond, F. Zufferey, L. Harewood, R.G. Walters, Z. Kutalik, D. Martinet, Y. Shen, A. Valsesia, and N.D. Beckmann Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus Nature 478 2011 97 102
7. M. Shinawi, P. Liu, S.H. Kang, J. Shen, J.W. Belmont, D.A. Scott, F.J. Probst, W.J. Craigen, B.H. Graham, and A. Pursley Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size J. Med. Genet. 47 2010 332 341
8. S.E. McCarthy, V. Makarov, G. Kirov, A.M. Addington, J. McClellan, S. Yoon, D.O. Perkins, D.E. Dickel, M. Kusenda, O. Krastoshevsky Wellcome Trust Case Control Consortium Microduplications of 16p11.2 are associated with schizophrenia Nat. Genet. 41 2009 1223 1227
9. E.M. Reinthaler, D. Lal, S. Lebon, M.S. Hildebrand, H.H. Dahl, B.M. Regan, M. Feucht, H. Steinböck, B. Neophytou, G.M. Ronen 16p11.2 European Consortium EPICURE Consortium EuroEPINOMICS Consortium 16p11.2 600 kb duplications confer risk for typical and atypical Rolandic epilepsy Hum. Mol. Genet. 23 2014 6069 6080
10. A.M. Maillard, A. Ruef, F. Pizzagalli, E. Migliavacca, L. Hippolyte, S. Adaszewski, J. Dukart, C. Ferrari, P. Conus, and K. Mannik The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity Mol. Psychiatry 20 2015 140 147
11. F. Zufferey, E.H. Sherr, N.D. Beckmann, E. Hanson, A.M. Maillard, L. Hippolyte, A. Macé, C. Ferrari, Z. Kutalik, J. Andrieux Simons VIP Consortium 16p11.2 European Consortium A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders J. Med. Genet. 49 2012 660 668
12. E. Courchesne, P.R. Mouton, M.E. Calhoun, K. Semendeferi, C. Ahrens-Barbeau, M.J. Hallet, C.C. Barnes, and K. Pierce Neuron number and size in prefrontal cortex of children with autism JAMA 306 2011 2001 2010
13. C. Golzio, J. Willer, M.E. Talkowski, E.C. Oh, Y. Taniguchi, S. Jacquemont, A. Reymond, M. Sun, A. Sawa, and J.F. Gusella KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant Nature 485 2012 363 367
14. M. Fromer, A.J. Pocklington, D.H. Kavanagh, H.J. Williams, S. Dwyer, P. Gormley, L. Georgieva, E. Rees, P. Palta, and D.M. Ruderfer De novo mutations in schizophrenia implicate synaptic networks Nature 506 2014 179 184
15. A. Crepel, J. Steyaert, W. De la Marche, V. De Wolf, J.P. Fryns, I. Noens, K. Devriendt, and H. Peeters Narrowing the critical deletion region for autism spectrum disorders on 16p11.2 Am. J. Med. Genet. B. Neuropsychiatr. Genet. 156 2011 243 245
16. H. Wood Genetics: expanding the spectrum of neurological disorders associated with PRRT2 mutations Nat. Rev. Neurol. 8 2012 657
17. D.B. Sparrow, A. McInerney-Leo, Z.S. Gucev, B. Gardiner, M. Marshall, P.J. Leo, D.L. Chapman, V. Tasic, A. Shishko, and M.A. Brown Autosomal dominant spondylocostal dysostosis is caused by mutation in TBX6 Hum. Mol. Genet. 22 2013 1625 1631
18. F.C. de Anda, A.L. Rosario, O. Durak, T. Tran, J. Gräff, K. Meletis, D. Rei, T. Soda, R. Madabhushi, and D.D. Ginty Autism spectrum disorder susceptibility gene TAOK2 affects basal dendrite formation in the neocortex Nat. Neurosci. 15 2012 1022 1031
19. A. Blaker-Lee, S. Gupta, J.M. McCammon, G. De Rienzo, and H. Sive Zebrafish homologs of genes within 16p11.2, a genomic region associated with brain disorders, are active during brain development, and include two deletion dosage sensor genes Dis. Model. Mech. 5 2012 834 851
20. C.N. Henrichsen, N. Vinckenbosch, S. Zöllner, E. Chaignat, S. Pradervand, F. Schütz, M. Ruedi, H. Kaessmann, and A. Reymond Segmental copy number variation shapes tissue transcriptomes Nat. Genet. 41 2009 424 429
21. E. Chaignat, E.A. Yahya-Graison, C.N. Henrichsen, J. Chrast, F. Schütz, S. Pradervand, and A. Reymond Copy number variation modifies expression time courses Genome Res. 21 2011 106 113
22. G. Merla, C. Howald, C.N. Henrichsen, R. Lyle, C. Wyss, M.T. Zabot, S.E. Antonarakis, and A. Reymond Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes Am. J. Hum. Genet. 79 2006 332 341
23. A. Reymond, C.N. Henrichsen, L. Harewood, and G. Merla Side effects of genome structural changes Curr. Opin. Genet. Dev. 17 2007 381 386
24. B.E. Stranger, M.S. Forrest, M. Dunning, C.E. Ingle, C. Beazley, N. Thorne, R. Redon, C.P. Bird, A. de Grassi, and C. Lee Relative impact of nucleotide and copy number variation on gene expression phenotypes Science 315 2007 848 853
25. G. Ricard, J. Molina, J. Chrast, W. Gu, N. Gheldof, S. Pradervand, F. Schütz, J.I. Young, J.R. Lupski, A. Reymond, and K. Walz Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models PLoS Biol. 8 2010 e1000543
26. G.K. Smyth Linear models and empirical bayes methods for assessing differential expression in microarray experiments Stat. Appl. Genet. Mol. Biol. 3 2004 e3
27. W. Huang, B.T. Sherman, and R.A. Lempicki Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources Nat. Protoc. 4 2009 44 57
28. J. Reimand, T. Arak, and J. Vilo g:Profiler - a web server for functional interpretation of gene lists (2011 update) Nucleic Acids Res. 39 2011 W307 W315
29. E.Y. Chen, C.M. Tan, Y. Kou, Q. Duan, Z. Wang, G.V. Meirelles, N.R. Clark, and A. Ma'ayan Enrichr: interactive and collaborative HTML5 gene list enrichment analysis tool BMC Bioinformatics 14 2013 128
30. S.L. Girard, J. Gauthier, A. Noreau, L. Xiong, S. Zhou, L. Jouan, A. Dionne-Laporte, D. Spiegelman, E. Henrion, and O. Diallo Increased exonic de novo mutation rate in individuals with schizophrenia Nat. Genet. 43 2011 860 863
31. B. Xu, I. Ionita-Laza, J.L. Roos, B. Boone, S. Woodrick, Y. Sun, S. Levy, J.A. Gogos, and M. Karayiorgou De novo gene mutations highlight patterns of genetic and neural complexity in schizophrenia Nat. Genet. 44 2012 1365 1369
32. B. Xu, J.L. Roos, P. Dexheimer, B. Boone, B. Plummer, S. Levy, J.A. Gogos, and M. Karayiorgou Exome sequencing supports a de novo mutational paradigm for schizophrenia Nat. Genet. 43 2011 864 868
33. K.S. Vimaleswaran, I. Tachmazidou, J.H. Zhao, J.N. Hirschhorn, F. Dudbridge, and R.J. Loos Candidate genes for obesity-susceptibility show enriched association within a large genome-wide association study for BMI Hum. Mol. Genet. 21 2012 4537 4542
34. B. Zhang, and S. Horvath A general framework for weighted gene co-expression network analysis Stat. Appl. Genet. Mol. Biol. 4 2005 e17
35. I. Blumenthal, A. Ragavendran, S. Erdin, L. Klei, A. Sugathan, J.R. Guide, P. Manavalan, J.Q. Zhou, V.C. Wheeler, and J.Z. Levin Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families Am. J. Hum. Genet. 94 2014 870 883
36. G. Horev, J. Ellegood, J.P. Lerch, Y.E. Son, L. Muthuswamy, H. Vogel, A.M. Krieger, A. Buja, R.M. Henkelman, M. Wigler, and A.A. Mills Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism Proc. Natl. Acad. Sci. USA 108 2011 17076 17081
37. D.S. DeLuca, J.Z. Levin, A. Sivachenko, T. Fennell, M.D. Nazaire, C. Williams, M. Reich, W. Winckler, and G. Getz RNA-SeQC: RNA-seq metrics for quality control and process optimization Bioinformatics 28 2012 1530 1532
38. A.R. Quinlan, and I.M. Hall BEDTools: a flexible suite of utilities for comparing genomic features Bioinformatics 26 2010 841 842
39. S.P. Lund, D. Nettleton, D.J. McCarthy, and G.K. Smyth Detecting differential expression in RNA-sequence data using quasi-likelihood with shrunken dispersion estimates Stat. Appl. Genet. Mol. Biol. 11 2012 11
40. C. Soneson, and M. Delorenzi A comparison of methods for differential expression analysis of RNA-seq data BMC Bioinformatics 14 2013 91
41. M. Westerfield The Zebrafish Book. A Guide for the Laboratory Use of Zebrafish (Danio rerio) 2000 Univ. of Oregon Press Eugene
42. G. Beunders, E. Voorhoeve, C. Golzio, L.M. Pardo, J.A. Rosenfeld, M.E. Talkowski, I. Simonic, A.C. Lionel, S. Vergult, and R.E. Pyatt Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus Am. J. Hum. Genet. 92 2013 210 220
43. R. Luo, S.J. Sanders, Y. Tian, I. Voineagu, N. Huang, S.H. Chu, L. Klei, C. Cai, J. Ou, and J.K. Lowe Genome-wide transcriptome profiling reveals the functional impact of rare de novo and recurrent CNVs in autism spectrum disorders Am. J. Hum. Genet. 91 2012 38 55
44. J.M. Gerdes, E.E. Davis, and N. Katsanis The vertebrate primary cilium in development, homeostasis, and disease Cell 137 2009 32 45
45. E.C. Oh, and N. Katsanis Cilia in vertebrate development and disease Development 139 2012 443 448
46. C.N. Henrichsen, G. Csárdi, M.T. Zabot, C. Fusco, S. Bergmann, G. Merla, and A. Reymond Using transcription modules to identify expression clusters perturbed in Williams-Beuren syndrome PLoS Comput. Biol. 7 2011 e1001054
47. T.J. van Dam, G. Wheway, G.G. Slaats, M.A. Huynen, R.H. Giles SYSCILIA Study Group The SYSCILIA gold standard (SCGSv1) of known ciliary components and its applications within a systems biology consortium Cilia 2 2013 7
48. J.J. Breunig, M.R. Sarkisian, J.I. Arellano, Y.M. Morozov, A.E. Ayoub, S. Sojitra, B. Wang, R.A. Flavell, P. Rakic, and T. Town Primary cilia regulate hippocampal neurogenesis by mediating sonic hedgehog signaling Proc. Natl. Acad. Sci. USA 105 2008 13127 13132
49. Y.G. Han, N. Spassky, M. Romaguera-Ros, J.M. Garcia-Verdugo, A. Aguilar, S. Schneider-Maunoury, and A. Alvarez-Buylla Hedgehog signaling and primary cilia are required for the formation of adult neural stem cells Nat. Neurosci. 11 2008 277 284
50. M. Klinger, W. Wang, S. Kuhns, F. Bärenz, S. Dräger-Meurer, G. Pereira, and O.J. Gruss The novel centriolar satellite protein SSX2IP targets Cep290 to the ciliary transition zone Mol. Biol. Cell 25 2014 495 507
51. C.E. Larkins, G.D. Aviles, M.P. East, R.A. Kahn, and T. Caspary Arl13b regulates ciliogenesis and the dynamic localization of Shh signaling proteins Mol. Biol. Cell 22 2011 4694 4703
52. K. Agassandian, M. Patel, M. Agassandian, K.E. Steren, K. Rahmouni, V.C. Sheffield, and J.P. Card Ciliopathy is differentially distributed in the brain of a Bardet-Biedl syndrome mouse model PLoS ONE 9 2014 e93484
53. C. Cheung, K. Yu, G. Fung, M. Leung, C. Wong, Q. Li, P. Sham, S. Chua, and G. McAlonan Autistic disorders and schizophrenia: related or remote? An anatomical likelihood estimation PLoS ONE 5 2010 e12233
54. A.Y. Qureshi, S. Mueller, A.Z. Snyder, P. Mukherjee, J.I. Berman, T.P. Roberts, S.S. Nagarajan, J.E. Spiro, W.K. Chung, E.H. Sherr, R.L. Buckner Simons VIP Consortium Opposing brain differences in 16p11.2 deletion and duplication carriers J. Neurosci. 34 2014 11199 11211
55. E.M. Valente, J.L. Silhavy, F. Brancati, G. Barrano, S.R. Krishnaswami, M. Castori, M.A. Lancaster, E. Boltshauser, L. Boccone, L. Al-Gazali International Joubert Syndrome Related Disorders Study Group Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome Nat. Genet. 38 2006 623 625
56. J.A. Sayer, E.A. Otto, J.F. O'Toole, G. Nurnberg, M.A. Kennedy, C. Becker, H.C. Hennies, J. Helou, M. Attanasio, and B.V. Fausett The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 Nat. Genet. 38 2006 674 681
57. F. Brancati, G. Barrano, J.L. Silhavy, S.E. Marsh, L. Travaglini, S.L. Bielas, M. Amorini, D. Zablocka, H. Kayserili, L. Al-Gazali International JSRD Study Group CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders Am. J. Hum. Genet. 81 2007 104 113
58. F.L. Hitti, and S.A. Siegelbaum The hippocampal CA2 region is essential for social memory Nature 508 2014 88 92
59. J.Z. Tsien, P.T. Huerta, and S. Tonegawa The essential role of hippocampal CA1 NMDA receptor-dependent synaptic plasticity in spatial memory Cell 87 1996 1327 1338
60. D.C. Glahn, S. Therman, M. Manninen, M. Huttunen, J. Kaprio, J. Lönnqvist, and T.D. Cannon Spatial working memory as an endophenotype for schizophrenia Biol. Psychiatry 53 2003 624 626
61. D. Piskulic, J.S. Olver, T.R. Norman, and P. Maruff Behavioural studies of spatial working memory dysfunction in schizophrenia: a quantitative literature review Psychiatry Res. 150 2007 111 121
62. A. Marley, and M. von Zastrow A simple cell-based assay reveals that diverse neuropsychiatric risk genes converge on primary cilia PLoS ONE 7 2012 e46647
63. P. Acs, P.O. Bauer, B. Mayer, T. Bera, R. Macallister, E. Mezey, and I. Pastan A novel form of ciliopathy underlies hyperphagia and obesity in Ankrd26 knockout mice Brain Struct. Funct. 2014 10.1007/s00429-014-0741-9 Published online March 16, 2014
64. H.N. Cukier, N.D. Dueker, S.H. Slifer, J.M. Lee, P.L. Whitehead, E. Lalanne, N. Leyva, I. Konidari, R.C. Gentry, and W.F. Hulme Exome sequencing of extended families with autism reveals genes shared across neurodevelopmental and neuropsychiatric disorders Mol. Autism 5 2014 1
65. R.J. Ferland, W. Eyaid, R.V. Collura, L.D. Tully, R.S. Hill, D. Al-Nouri, A. Al-Rumayyan, M. Topcu, G. Gascon, and A. Bodell Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome Nat. Genet. 36 2004 1008 1013
66. S. Janssen, G. Ramaswami, E.E. Davis, T. Hurd, R. Airik, J.M. Kasanuki, L. Van Der Kraak, S.J. Allen, P.L. Beales, and N. Katsanis Mutation analysis in Bardet-Biedl syndrome by DNA pooling and massively parallel resequencing in 105 individuals Hum. Genet. 129 2011 79 90
67. E.A. Otto, T.W. Hurd, R. Airik, M. Chaki, W. Zhou, C. Stoetzel, S.B. Patil, S. Levy, A.K. Ghosh, and C.A. Murga-Zamalloa Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy Nat. Genet. 42 2010 840 850
68. A. Shalata, M.C. Ramirez, R.J. Desnick, N. Priedigkeit, C. Buettner, C. Lindtner, M. Mahroum, M. Abdul-Ghani, F. Dong, and N. Arar Morbid obesity resulting from inactivation of the ciliary protein CEP19 in humans and mice Am. J. Hum. Genet. 93 2013 1061 1071
69. G. Stratigopoulos, J.F. Martin Carli, D.R. O'Day, L. Wang, C.A. Leduc, P. Lanzano, W.K. Chung, M. Rosenbaum, D. Egli, D.A. Doherty, and R.L. Leibel Hypomorphism for RPGRIP1L, a ciliary gene vicinal to the FTO locus, causes increased adiposity in mice Cell Metab. 19 2014 767 779
70. K.C. Corbit, P. Aanstad, V. Singla, A.R. Norman, D.Y. Stainier, and J.F. Reiter Vertebrate Smoothened functions at the primary cilium Nature 437 2005 1018 1021
71. E.J. Ezratty, N. Stokes, S. Chai, A.S. Shah, S.E. Williams, and E. Fuchs A role for the primary cilium in Notch signaling and epidermal differentiation during skin development Cell 145 2011 1129 1141
72. Y.P. Liu, I.C. Tsai, M. Morleo, E.C. Oh, C.C. Leitch, F. Massa, B.H. Lee, D.S. Parker, D. Finley, and N.A. Zaghloul Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators J. Clin. Invest. 124 2014 2059 2070
73. Y. Chen, Z. Yang, M. Meng, Y. Zhao, N. Dong, H. Yan, L. Liu, M. Ding, H.B. Peng, and F. Shao Cullin mediates degradation of RhoA through evolutionarily conserved BTB adaptors to control actin cytoskeleton structure and cell movement Mol. Cell 35 2009 841 855
74. A. Kong, M.L. Frigge, G. Masson, S. Besenbacher, P. Sulem, G. Magnusson, S.A. Gudjonsson, A. Sigurdsson, A. Jonasdottir, and A. Jonasdottir Rate of de novo mutations and the importance of father's age to disease risk Nature 488 2012 471 475
75. B.J. O'Roak, L. Vives, S. Girirajan, E. Karakoc, N. Krumm, B.P. Coe, R. Levy, A. Ko, C. Lee, and J.D. Smith Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations Nature 485 2012 246 250
76. E.L. Nurmi, Y. Bradford, Y. Chen, J. Hall, B. Arnone, M.B. Gardiner, H.B. Hutcheson, J.R. Gilbert, M.A. Pericak-Vance, and S.A. Copeland-Yates Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families Genomics 77 2001 105 113
77. S.E. Smith, Y.D. Zhou, G. Zhang, Z. Jin, D.C. Stoppel, and M.P. Anderson Increased gene dosage of Ube3a results in autism traits and decreased glutamate synaptic transmission in mice Sci. Transl. Med. 3 2011 03ra97
78. R.A. Rachel, H.L. May-Simera, S. Veleri, N. Gotoh, B.Y. Choi, C. Murga-Zamalloa, J.C. McIntyre, J. Marek, I. Lopez, and A.N. Hackett Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis J. Clin. Invest. 122 2012 1233 1245
79. K. Baker, G.B. Northam, W.K. Chong, T. Banks, P. Beales, and T. Baldeweg Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet-Biedl syndrome Am. J. Med. Genet. A. 155A 2011 1 8
80. D.D. Brinckman, K.M. Keppler-Noreuil, C. Blumhorst, L.G. Biesecker, J.C. Sapp, J.J. Johnston, and E.A. Wiggs Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome Am. J. Med. Genet. A. 161A 2013 2964 2971
81. S. Nik-Zainal, R. Strick, M. Storer, N. Huang, R. Rad, L. Willatt, T. Fitzgerald, V. Martin, R. Sandford, and N.P. Carter High incidence of recurrent copy number variants in patients with isolated and syndromic Müllerian aplasia J. Med. Genet. 48 2011 197 204
82. M.G. Sampson, C.R. Coughlin 2nd, P. Kaplan, L.K. Conlin, K.E. Meyers, E.H. Zackai, N.B. Spinner, and L. Copelovitch Evidence for a recurrent microdeletion at chromosome 16p11.2 associated with congenital anomalies of the kidney and urinary tract (CAKUT) and Hirschsprung disease Am. J. Med. Genet. A. 152A 2010 2618 2622
83. S. Sanna-Cherchi, K. Kiryluk, K.E. Burgess, M. Bodria, M.G. Sampson, D. Hadley, S.N. Nees, M. Verbitsky, B.J. Perry, and R. Sterken Copy-number disorders are a common cause of congenital kidney malformations Am. J. Hum. Genet. 91 2012 987 997
84. M. Sandbacka, H. Laivuori, É. Freitas, M. Halttunen, V. Jokimaa, L. Morin-Papunen, C. Rosenberg, and K. Aittomäki TBX6, LHX1 and copy number variations in the complex genetics of Müllerian aplasia Orphanet J. Rare Dis. 8 2013 125
85. G.E. Oprea, S. Kröber, M.L. McWhorter, W. Rossoll, S. Müller, M. Krawczak, G.J. Bassell, C.E. Beattie, and B. Wirth Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy Science 320 2008 524 527
86. B. Ackermann, S. Kröber, L. Torres-Benito, A. Borgmann, M. Peters, S.M. Hosseini Barkooie, R. Tejero, M. Jakubik, J. Schreml, and J. Milbradt Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality Hum. Mol. Genet. 22 2013 1328 1347