Mutations in centrosomal protein CEP152 in primary microcephaly families linked to MCPH4

American Journal of Human Genetics

Volumn 87, Issue 1, 2010, Pages 40-51

  Guernsey, Duane L ^a   Jiang, Haiyan ^a   Hussin, Julie ^c   Arnold, Marc ^e   Bouyakdan, Khalil ^c   Perry, Scott ^a   Babineau Sturk, Tina ^b   Beis, Jill ^b   Dumas, Nadine ^b   Evans, Susan C ^a   Ferguson, Meghan ^b   Matsuoka, Makoto ^a   MacGillivray, Christine ^a   Nightingale, Mathew ^a   Patry, Lysanne ^c   Rideout, Andrea L ^b   Thomas, Aidan ^b   Orr, Andrew ^a   Hoffmann, Ingrid ^e   Michaud, Jacques L ^c   Awadalla, Philip ^c   Meek, David C ^d   Ludman, Mark ^b   Samuels, Mark E ^a,c   more..

^a DALHOUSIE UNIVERSITY   (Canada)

^b IWK HEALTH CENTRE   (Canada)

^c UNIVERSITY OF MONTREAL   (Canada)

^d SAINT JOHN REGIONAL HOSPITAL   (Canada)

^e GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CENTROSOMAL PROTEIN; COMPLEMENTARY DNA; DNA; PROTEIN; PROTEIN CEP152; RNA; UNCLASSIFIED DRUG; CELL CYCLE PROTEIN; CEP152 PROTEIN, HUMAN;

AMINO ACID SEQUENCE; ARTICLE; BRAIN SIZE; CASE REPORT; CENTROSOME; CHILD; CHROMOSOME 15Q; EMBRYO; FAMILY STUDY; FEMALE; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; GENOME; GENOTYPE; HEAD CIRCUMFERENCE; HUMAN; HUMAN CELL; MALE; MICROCEPHALY; MOLECULAR EVOLUTION; MOUSE; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; ANIMAL; BIOLOGY; GENETIC ASSOCIATION; GENETICS; MOLECULAR GENETICS; MUTATION; PEDIGREE;

DANIO RERIO; MAMMALIA;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CELL CYCLE PROTEINS; COMPUTATIONAL BIOLOGY; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC LOCI; HUMANS; MICE; MICROCEPHALY; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE;

EID: 77955068270     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.06.003     Document Type: Article

References (58)

1. G.H. Mochida, and C.A. Walsh Molecular genetics of human microcephaly Curr. Opin. Neurol. 14 2001 151 156
2. E. Roberts, D.J. Hampshire, L. Pattison, K. Springell, H. Jafri, P. Corry, J. Mannon, Y. Rashid, Y. Crow, J. Bond, and C.G. Woods Autosomal recessive primary microcephaly: an analysis of locus heterogeneity and phenotypic variation J. Med. Genet. 39 2002 718 721
3. C.G. Woods Human microcephaly Curr. Opin. Neurobiol. 14 2004 112 117
4. C.G. Woods, J. Bond, and W. Enard Autosomal recessive primary microcephaly (MCPH): a review of clinical, molecular, and evolutionary findings Am. J. Hum. Genet. 76 2005 717 728
5. D. Abuelo Microcephaly syndromes Semin. Pediatr. Neurol. 14 2007 118 127
6. A.M. Kaindl, S. Passemard, P. Kumar, N. Kraemer, L. Issa, A. Zwirner, B. Gerard, A. Verloes, S. Mani, and P. Gressens Many roads lead to primary autosomal recessive microcephaly Prog Neurobiol. 90 2010 363 383
7. A.P. Jackson, H. Eastwood, S.M. Bell, J. Adu, C. Toomes, I.M. Carr, E. Roberts, D.J. Hampshire, Y.J. Crow, and A.J. Mighell Identification of microcephalin, a protein implicated in determining the size of the human brain Am. J. Hum. Genet. 71 2002 136 142
8. C. Ponting, and A.P. Jackson Evolution of primary microcephaly genes and the enlargement of primate brains Curr. Opin. Genet. Dev. 15 2005 241 248
9. J. Cox, A.P. Jackson, J. Bond, and C.G. Woods What primary microcephaly can tell us about brain growth Trends Mol. Med. 12 2006 358 366
10. P.D. Evans, E.J. Vallender, and B.T. Lahn Molecular evolution of the brain size regulator genes CDK5RAP2 and CENPJ Gene 375 2006 75 79
11. E.J. Vallender, N. Mekel-Bobrov, and B.T. Lahn Genetic basis of human brain evolution Trends Neurosci. 31 2008 637 644
12. R.C. Edgar MUSCLE: a multiple sequence alignment method with reduced time and space complexity BMC Bioinformatics 5 2004 113
13. P.C. Ng, and S. Henikoff Predicting deleterious amino acid substitutions Genome Res. 11 2001 863 874
14. P.C. Ng, and S. Henikoff Accounting for human polymorphisms predicted to affect protein function Genome Res. 12 2002 436 446
15. P.C. Ng, and S. Henikoff SIFT: Predicting amino acid changes that affect protein function Nucleic Acids Res. 31 2003 3812 3814
16. V. Ramensky, P. Bork, and S. Sunyaev Human non-synonymous SNPs: server and survey Nucleic Acids Res. 30 2002 3894 3900
17. S. Sunyaev, V. Ramensky, and P. Bork Towards a structural basis of human non-synonymous single nucleotide polymorphisms Trends Genet. 16 2000 198 200
18. S. Sunyaev, V. Ramensky, I. Koch, W. Lathe 3rd, A.S. Kondrashov, and P. Bork Prediction of deleterious human alleles Hum. Mol. Genet. 10 2001 591 597
19. P.D. Thomas, M.J. Campbell, A. Kejariwal, H. Mi, B. Karlak, R. Daverman, K. Diemer, A. Muruganujan, and A. Narechania PANTHER: a library of protein families and subfamilies indexed by function Genome Res. 13 2003 2129 2141
20. P.D. Thomas, A. Kejariwal, M.J. Campbell, H. Mi, K. Diemer, N. Guo, I. Ladunga, B. Ulitsky-Lazareva, A. Muruganujan, and S. Rabkin PANTHER: a browsable database of gene products organized by biological function, using curated protein family and subfamily classification Nucleic Acids Res. 31 2003 334 341
21. E. Mathe, M. Olivier, S. Kato, C. Ishioka, P. Hainaut, and S.V. Tavtigian Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods Nucleic Acids Res. 34 2006 1317 1325
22. S.V. Tavtigian, G.B. Byrnes, D.E. Goldgar, and A. Thomas Classification of rare missense substitutions, using risk surfaces, with genetic- and molecular-epidemiology applications Hum. Mutat. 29 2008 1342 1354
23. A. Marchler-Bauer, and S.H. Bryant CD-Search: Protein domain annotations on the fly Nucleic Acids Res. 32 2004 W327 W331 (Web Server issue)
24. M. Delorenzi, and T. Speed An HMM model for coiled-coil domains and a comparison with PSSM-based predictions Bioinformatics 18 2002 617 625
25. A. Lupas Prediction and analysis of coiled-coil structures Methods Enzymol. 266 1996 513 525
26. A. Lupas Predicting coiled-coil regions in proteins Curr. Opin. Struct. Biol. 7 1997 388 393
27. A.V. McDonnell, T. Jiang, A.E. Keating, and B. Berger Paircoil2: improved prediction of coiled coils from sequence Bioinformatics 22 2006 356 358
28. H. Tanizawa, M. Taniguchi, G.D. Ghimire, and S. Mitaku Prediction of fragile points of coiled coils. Chem-Biol Info. J. 9 2009 12 29
29. S.H. Khan, A. Aguirre, and L.A. Bobek In-situ hybridization localized MUC7 mucin gene expression to the mucous acinar cells of human and MUC7-transgenic mouse salivary glands Glycoconj. J. 15 1998 1125 1132
30. R. Wernersson, and A.G. Pedersen RevTrans: Multiple alignment of coding DNA from aligned amino acid sequences Nucleic Acids Res. 31 2003 3537 3539
31. S. Guindon, and O. Gascuel A simple, fast, and accurate algorithm to estimate large phylogenies by maximum likelihood Syst. Biol. 52 2003 696 704
32. Z. Yang PAML 4: phylogenetic analysis by maximum likelihood Mol. Biol. Evol. 24 2007 1586 1591
33. J. Zhang, R. Nielsen, and Z. Yang Evaluation of an improved branch-site likelihood method for detecting positive selection at the molecular level Mol. Biol. Evol. 22 2005 2472 2479
34. C.R. Jamieson, C. Govaerts, and M.J. Abramowicz Primary autosomal recessive microcephaly: homozygosity mapping of MCPH4 to chromosome 15 Am. J. Hum. Genet. 65 1999 1465 1469
35. A. Gul, M.J. Hassan, S. Mahmood, W. Chen, S. Rahmani, M.I. Naseer, L. Dellefave, N. Muhammad, M.A. Rafiq, and M. Ansar Genetic studies of autosomal recessive primary microcephaly in 33 Pakistani families: Novel sequence variants in ASPM gene Neurogenetics 7 2006 105 110
36. J. Bond, E. Roberts, G.H. Mochida, D.J. Hampshire, S. Scott, J.M. Askham, K. Springell, M. Mahadevan, Y.J. Crow, and A.F. Markham ASPM is a major determinant of cerebral cortical size Nat. Genet. 32 2002 316 320
37. N. Kouprina, A. Pavlicek, N.K. Collins, M. Nakano, V.N. Noskov, J. Ohzeki, G.H. Mochida, J.I. Risinger, P. Goldsmith, and M. Gunsior The microcephaly ASPM gene is expressed in proliferating tissues and encodes for a mitotic spindle protein Hum. Mol. Genet. 14 2005 2155 2165
38. J. Bond, E. Roberts, K. Springell, S.B. Lizarraga, S. Lizarraga, S. Scott, J. Higgins, D.J. Hampshire, E.E. Morrison, and G.F. Leal A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size Nat. Genet. 37 2005 353 355
39. N. Kouprina, A. Pavlicek, G.H. Mochida, G. Solomon, W. Gersch, Y.H. Yoon, R. Collura, M. Ruvolo, J.C. Barrett, and C.G. Woods Accelerated evolution of the ASPM gene controlling brain size begins prior to human brain expansion PLoS Biol. 2 2004 E126
40. R. Nogales-Cadenas, F. Abascal, J. Díez-Pérez, J.M. Carazo, and A. Pascual-Montano CentrosomeDB: a human centrosomal proteins database Nucleic Acids Res. 37 Database issue, Database issue 2009 D175 D180
41. J.S. Andersen, C.J. Wilkinson, T. Mayor, P. Mortensen, E.A. Nigg, and M. Mann Proteomic characterization of the human centrosome by protein correlation profiling Nature 426 2003 570 574
42. H. Varmark, S. Llamazares, E. Rebollo, B. Lange, J. Reina, H. Schwarz, and C. Gonzalez Asterless is a centriolar protein required for centrosome function and embryo development in Drosophila Curr. Biol. 17 2007 1735 1745
43. S. Blachon, J. Gopalakrishnan, Y. Omori, A. Polyanovsky, A. Church, D. Nicastro, J. Malicki, and T. Avidor-Reiss Drosophila asterless and vertebrate Cep152 Are orthologs essential for centriole duplication Genetics 180 2008 2081 2094
44. D.L. Guernsey, H. Jiang, D.R. Campagna, S.C. Evans, M. Ferguson, M.D. Kellogg, M. Lachance, M. Matsuoka, M. Nightingale, and A. Rideout Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia Nat. Genet. 41 2009 651 653
45. D.L. Guernsey, H. Jiang, S.C. Evans, M. Ferguson, M. Matsuoka, M. Nightingale, A.L. Rideout, S. Provost, K. Bedard, and A. Orr Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2 Am. J. Hum. Genet. 85 2009 120 129
46. D.L. Guernsey, M.P. Dubé, H. Jiang, G. Asselin, S. Blowers, S. Evans, M. Ferguson, C. Macgillivray, M. Matsuoka, and M. Nightingale Novel mutations in the sacsin gene in ataxia patients from Maritime Canada J. Neurol. Sci. 288 2010 79 87
47. G. Goshima, M. Mayer, N. Zhang, N. Stuurman, and R.D. Vale Augmin: a protein complex required for centrosome-independent microtubule generation within the spindle J. Cell Biol. 181 2008 421 429
48. S. Lawo, M. Bashkurov, M. Mullin, M.G. Ferreria, R. Kittler, B. Habermann, A. Tagliaferro, I. Poser, J.R. Hutchins, and B. Hegemann HAUS, the 8-subunit human Augmin complex, regulates centrosome and spindle integrity Curr. Biol. 19 2009 816 826
49. R. Uehara, R.S. Nozawa, A. Tomioka, S. Petry, R.D. Vale, C. Obuse, and G. Goshima The augmin complex plays a critical role in spindle microtubule generation for mitotic progression and cytokinesis in human cells Proc. Natl. Acad. Sci. USA 106 2009 6998 7003
50. E.A. Nigg, and J.W. Raff Centrioles, centrosomes, and cilia in health and disease Cell 139 2009 663 678
51. A. Musio, A. Selicorni, M.L. Focarelli, C. Gervasini, D. Milani, S. Russo, P. Vezzoni, and L. Larizza X-linked Cornelia de Lange syndrome owing to SMC1L1 mutations Nat. Genet. 38 2006 528 530
52. A. Rauch, C.T. Thiel, D. Schindler, U. Wick, Y.J. Crow, A.B. Ekici, A.J. van Essen, T.O. Goecke, L. Al-Gazali, and K.H. Chrzanowska Mutations in the pericentrin (PCNT) gene cause primordial dwarfism Science 319 2008 816 819
53. J.L. Fish, Y. Kosodo, W. Enard, S. Pääbo, and W.B. Huttner Aspm specifically maintains symmetric proliferative divisions of neuroepithelial cells Proc. Natl. Acad. Sci. USA 103 2006 10438 10443
54. H.H. Ropers New perspectives for the elucidation of genetic disorders Am. J. Hum. Genet. 81 2007 199 207
55. F.L. Raymond, A. Whibley, M.R. Stratton, and J. Gecz Lessons learnt from large-scale exon re-sequencing of the X chromosome Hum. Mol. Genet. 18 R1, R1 2009 R60 R64
56. J.M. Graham Jr., R. Hennekam, W.B. Dobyns, E. Roeder, and D. Busch MICRO syndrome: an entity distinct from COFS syndrome Am. J. Med. Genet. A. 128A 2004 235 245
57. L. Faivre, M. Le Merrer, S. Lyonnet, H. Plauchu, N. Dagoneau, A.B. Campos-Xavier, J. Attia-Sobol, A. Verloes, A. Munnich, and V. Cormier-Daire Clinical and genetic heterogeneity of Seckel syndrome Am. J. Med. Genet. 112 2002 379 383
58. J.G. Hall, C. Flora, C.I. Scott Jr., R.M. Pauli, and K.I. Tanaka Majewski osteodysplastic primordial dwarfism type II (MOPD II): natural history and clinical findings Am. J. Med. Genet. A. 130A 2004 55 72