Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Nature

Volumn 467, Issue 7312, 2010, Pages 207-210

  Bilgüvar, Kaya ^a   Öztürk, Ali Kemal ^a   Louvi, Angeliki ^a   Kwan, Kenneth Y ^a   Choi, Murim ^a   Tatli, Burak ^b   Yalnizoǧlu, Dilek ^c   Tüysüz, Beyhan ^d   Çaǧlayan, Ahmet Okay ^e   Gökben, Sarenur ^f   Kaymakçalan, Hande ^g   Barak, Tanyeri ^a   Bakircioǧlu, Mehmet ^a   Yasuno, Katsuhito ^a   Ho, Winson ^a   Sanders, Stephan ^a,h   Zhu, Ying ^a   Yilmaz, Sanem ^f   Dinçer, Alp ⁱ   Johnson, Michele H ^a   Bronen, Richard A ^a   Koçer, Naci ^d   Per, Hüseyin ^j   Mane, Shrikant ^a   Pamir, Mehmet Necmettin ⁱ   Yalçinkaya, Cengiz ^d   Kumandaş, Sefer ^j   Topçu, Meral ^c   Özmen, Meral ^b   Šestan, Nenad ^a   Lifton, Richard P ^a   State, Matthew W ^a,h   Günel, Murat ^a   more..

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b ISTANBUL UNIVERSITY   (Turkey)

^c HACETTEPE UNIVERSITY   (Turkey)

^d ISTANBUL UNIVERSITY   (Turkey)

^e Kayseri Education and Research Hospital ^*  (Turkey)

^f EGE UNIVERSITY SCHOOL OF MEDICINE   (Turkey)

^g BAHCESEHIR UNIVERSITY   (Turkey)

^h YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

ⁱ ACIBADEM UNIVERSITY   (Turkey)

^j ERCIYES UNIVERSITY MEDICAL FACULTY   (Turkey)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ABNORMALITY; BRAIN; DEVELOPMENTAL BIOLOGY; EMBRYO; GENE EXPRESSION; HOMINID; MOLECULAR ANALYSIS; MUTATION; NEUROLOGY; PATHOGENICITY; RODENT;

AGYRIA; ANIMAL TISSUE; ARTICLE; BRAIN MALFORMATION; CEREBELLUM HYPOPLASIA; CONTROLLED STUDY; CORPUS CALLOSUM AGENESIS; GENE; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN TISSUE; IN SITU HYBRIDIZATION; MICROCEPHALY; MICROGYRIA; MOUSE; NEOCORTEX; NONHUMAN; PACHYGYRIA; PRIORITY JOURNAL; SCHIZENCEPHALY; WDR62 GENE; ANIMAL; BRAIN; BRAIN DISEASE; FEMALE; GENETICS; MALE; METABOLISM; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PROCEDURES; RECESSIVE GENE;

ANIMALS; BASE SEQUENCE; BRAIN; BRAIN DISEASES; DNA MUTATIONAL ANALYSIS; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MICE; MICROCEPHALY; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE;

MUS;

NERVE PROTEIN; WDR62 PROTEIN, HUMAN;

EID: 78049336905     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature09327     Document Type: Article

References (26)

1. Bystron, I., Blakemore, C. & Rakic, P. Development of the human cerebral cortex: Boulder Committee revisited. Nature Rev. Neurosci. 9, 110-122 (2008).
2. Rakic, P. Evolution of the neocortex: a perspective from developmental biology. Nature Rev. Neurosci. 10, 724-735 (2009).
3. Guerrini, R., Dobyns, W. B. & Barkovich, A. J. Abnormal development of the human cerebral cortex: genetics, Functional consequences and treatment options. Trends Neurosci. 31, 154-162 (2008).
4. Guerrini, R. Genetic malformations of the cerebral cortex and epilepsy. Epilepsia 46 (suppl. 1), 32-37 (2005).
5. Guerrini, R. & Carrozzo, R. Epilepsy and genetic malformations of the cerebral cortex. Am. J. Med. Genet. 106, 160-173 (2001).
6. Mochida, G. H. & Walsh, C. A. Molecular genetics of human microcephaly. Curr. Opin. Neurol. 14, 151-156 (2001).
7. Barkovich, A. J., Kuzniecky, R. I., Jackson, G. D., Guerrini, R. & Dobyns, W. B. Classification system for malformations of cortical development: update 2001. Neurology 57, 2168-2178 (2001).
8. Barkovich, A. J., Kuzniecky, R. I., Jackson, G. D., Guerrini, R. & Dobyns, W. B. A developmental and genetic classification for malformations of cortical development. Neurology 65, 1873-1887 (2005).
9. Choi, M. Et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc. Natl Acad. Sci. USA 106, 19096-19101 (2009).
10. Ng, S. B. Et al. Exome sequencing identifies the cause of a mendelian disorder. Nature Genet. 42, 30-35 (2010).
11. Ng, S. B. Et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461, 272-276 (2009).
12. Purcell, S. Et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet. 81, 559-575 (2007).
13. Wasserman, T. Et al. A novel c-Jun N-terminal kinase (JNK)-binding protein WDR62 is recruited to stress granules and mediates a nonclassical JNK activation. Mol. Biol. Cell 21, 117-130 (2010).
14. Bond, J. Et al. A centrosomal mechanism involving CDK5RAP2 and CENPJ controls brain size. Nature Genet. 37, 353-355 (2005).
15. Kumar, A., Girimaji, S. C., Duvvari, M. R. & Blanton, S. H. Mutations in STIL, Encoding a pericentriolar and centrosomal protein, Cause primary microcephaly. Am. J. Hum. Genet. 84, 286-290 (2009).
16. Thornton, G. K. & Woods, C. G. Primary microcephaly: do all roads lead to Rome? Trends Genet. 25, 501-510 (2009).
17. Roberts, E. Et al. The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2. Eur. J. Hum. Genet. 7, 815-820 (1999).
18. Hartl, D. Et al. Transcriptome and proteome analysis of early embryonic mouse brain development. Proteomics 8, 1257-1265 (2008).
19. Li, H., Ruan, J. & Durbin, R. Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res. 18, 1851-1858 (2008).
20. Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754-1760 (2009).
21. Li, H. Et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics 25, 2078-2079 (2009).
22. Irizarry, R. A. Et al. Summaries of Affymetrix GeneChip probe level data. Nucleic Acids Res. 31, E15 (2003).
23. Huang da. W., Sherman, B. T. & Lempicki, R. A. Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources. Nature Protocols 4, 44-57 (2009).
24. Stillman, A. A. Et al. Developmentally regulated and evolutionarily conserved expression of SLITRK1 in brain circuits implicated in Tourette syndrome. J. Comp. Neurol. 513, 21-37 (2009).
25. Abelson, J. F. Et al. Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science 310, 317-320 (2005).
26. Kwan, K. Y. Et al. SOX5 postmitotically regulates migration, Postmigratory differentiation, And projections of subplate and deep-layer neocortical neurons. Proc. Natl Acad. Sci. USA 105, 16021-16026 (2008).