SOBP is mutated in syndromic and nonsyndromic intellectual disability and is highly expressed in the brain limbic system

American Journal of Human Genetics

Volumn 87, Issue 5, 2010, Pages 694-700

  Birk, Efrat ^a   Har Zahav, Adi ^a   Manzini, Chiara M ^b   Pasmanik Chor, Metsada ^a   Kornreich, Liora ^c   Walsh, Christopher A ^b   Noben Trauth, Konrad ^d   Albin, Adi ^e   Simon, Amos J ^f   Colleaux, Laurence ^g   Morad, Yair ^a,h   Rainshtein, Limor ^e   Tischfield, David J ^b   Wang, Peter ^b   Magal, Nurit ^e   Maya, Idit ^e   Shoshani, Noa ^a   Rechavi, Gideon ^a,f   Gothelf, Doron ^a,f   Maydan, Gal ^e   Shohat, Mordechai ^a,e   Basel Vanagaite, Lina ^a,c,e   more..

^a TEL AVIV UNIVERSITY   (Israel)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^d NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS   (United States)

^e RABIN MEDICAL CENTER   (Israel)

^f SHEBA MEDICAL CENTER   (Israel)

^g INSERM   (France)

^h ASSAF HAROFEH MEDICAL CENTER   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

DYNAMIN; PACSIN 1; PROTEIN DERIVATIVE; PROTEIN SOBP; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

ANIMAL TISSUE; ARTICLE; GENE MAPPING; GENE MUTATION; GENOTYPE; HUMAN; LIMBIC SYSTEM; MENTAL DEFICIENCY; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN CONTENT; PROTEIN EXPRESSION; PROTEIN PROTEIN INTERACTION; PROTEOMICS; SYNDROME;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CARRIER PROTEINS; FEMALE; HUMANS; KARYOTYPING; LIMBIC SYSTEM; MALE; MENTAL RETARDATION; METALLOPROTEINS; MICE; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PSYCHOTIC DISORDERS; SYNDROME;

MUS;

EID: 78249243419     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.10.005     Document Type: Article

References (25)

1. J. McLaren, and S.E. Bryson Review of recent epidemiological studies of mental retardation: prevalence, associated disorders, and etiology Am. J. Ment. Retard. 92 1987 243 254
2. H. Leonard, and X. Wen The epidemiology of mental retardation: challenges and opportunities in the new millennium Ment. Retard. Dev. Disabil. Res. Rev. 8 2002 117 134
3. S.G. Frints, G. Froyen, P. Marynen, and J.P. Fryns X-linked mental retardation: vanishing boundaries between non-specific (MRX) and syndromic (MRXS) forms Clin. Genet. 62 2002 423 432
4. T. Kleefstra, and B.C. Hamel X-linked mental retardation: further lumping, splitting and emerging phenotypes Clin. Genet. 67 2005 451 467
5. L. Basel-Vanagaite Genetics of autosomal recessive non-syndromic mental retardation: recent advances Clin. Genet. 72 2007 167 174
6. M. Garshasbi, V. Hadavi, H. Habibi, K. Kahrizi, R. Kariminejad, F. Behjati, A. Tzschach, H. Najmabadi, H.H. Ropers, and A.W. Kuss A defect in the TUSC3 gene is associated with autosomal recessive mental retardation Am. J. Hum. Genet. 82 2008 1158 1164
7. F. Molinari, F. Foulquier, P.S. Tarpey, W. Morelle, S. Boissel, J. Teague, S. Edkins, P.A. Futreal, M.R. Stratton, and G. Turner Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation Am. J. Hum. Genet. 82 2008 1150 1157
8. A. Mir, L. Kaufman, A. Noor, M.M. Motazacker, T. Jamil, M. Azam, K. Kahrizi, M.A. Rafiq, R. Weksberg, and T. Nasr Identification of mutations in TRAPPC9, which encodes the NIK- and IKK-beta-binding protein, in nonsyndromic autosomal-recessive mental retardation Am. J. Hum. Genet. 85 2009 909 915
9. G.H. Mochida, M. Mahajnah, A.D. Hill, L. Basel-Vanagaite, D. Gleason, R.S. Hill, A. Bodell, M. Crosier, R. Straussberg, and C.A. Walsh A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly Am. J. Hum. Genet. 85 2009 897 902
10. O. Philippe, M. Rio, A. Carioux, J.M. Plaza, P. Guigue, F. Molinari, N. Boddaert, C. Bole-Feysot, P. Nitschke, and A. Smahi Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation Am. J. Hum. Genet. 85 2009 903 908
11. L. Basel-Vanagaite, L. Rainshtein, D. Inbar, D. Gothelf, R. Hennekam, and R. Straussberg Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome Am. J. Med. Genet. A. 143A 2007 1687 1691
12. M. Fishelson, and D. Geiger Exact genetic linkage computations for general pedigrees Bioinformatics 18 Suppl 1 2002 S189 S198
13. I. Ovcharenko, M.A. Nobrega, G.G. Loots, and L. Stubbs ECR Browser: a tool for visualizing and accessing data from comparisons of multiple vertebrate genomes Nucleic Acids Res. 32 Web Server issue 2004 W280 W286
14. E.S. Tucker, S. Segall, D. Gopalakrishna, Y. Wu, M. Vernon, F. Polleux, and A.S. Lamantia Molecular specification and patterning of progenitor cells in the lateral and medial ganglionic eminences J. Neurosci. 28 2008 9504 9518
15. X. Han, X. Wu, W.Y. Chung, T. Li, A. Nekrutenko, N.S. Altman, G. Chen, and H. Ma Transcriptome of embryonic and neonatal mouse cortex by high-throughput RNA sequencing Proc. Natl. Acad. Sci. USA 106 2009 12741 12746
16. A.F. Pimenta, B.S. Reinoso, and P. Levitt Expression of the mRNAs encoding the limbic system-associated membrane protein (LAMP): II. Fetal rat brain J. Comp. Neurol. 375 1996 289 302
17. K.L. Kenyon, D.J. Li, C. Clouser, S. Tran, and F. Pignoni Fly SIX-type homeodomain proteins Sine oculis and Optix partner with different cofactors during eye development Dev. Dyn. 234 2005 497 504
18. A. Calderon, A. Derr, B.B. Stagner, K.R. Johnson, G. Martin, and K. Noben-Trauth Cochlear developmental defect and background-dependent hearing thresholds in the Jackson circler (jc) mutant mouse Hear. Res. 221 2006 44 58
19. Z. Chen, M. Montcouquiol, R. Calderon, N.A. Jenkins, N.G. Copeland, M.W. Kelley, and K. Noben-Trauth Jxc1/Sobp, encoding a nuclear zinc finger protein, is critical for cochlear growth, cell fate, and patterning of the organ of corti J. Neurosci. 28 2008 6633 6641
20. B. Qualmann, J. Roos, P.J. DiGregorio, and R.B. Kelly Syndapin I, a synaptic dynamin-binding protein that associates with the neural Wiskott-Aldrich syndrome protein Mol. Biol. Cell 10 1999 501 513
21. K. Takei, V.I. Slepnev, V. Haucke, and P. De Camilli Functional partnership between amphiphysin and dynamin in clathrin-mediated endocytosis Nat. Cell Biol. 1 1999 33 39
22. S.M. Ferguson, G. Brasnjo, M. Hayashi, M. Wölfel, C. Collesi, S. Giovedi, A. Raimondi, L.W. Gong, P. Ariel, and S. Paradise A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis Science 316 2007 570 574
23. E. Torre, M.A. McNiven, and R. Urrutia Dynamin 1 antisense oligonucleotide treatment prevents neurite formation in cultured hippocampal neurons J. Biol. Chem. 269 1994 32411 32417
24. J.-F. Sauer, and M. Bartos Recruitment of early postnatal parvalbumin-positive hippocampal interneurons by GABAergic excitation J. Neurosci. 30 2010 110 115
25. L. de Lecea, J.A. del Río, and E. Soriano Developmental expression of parvalbumin mRNA in the cerebral cortex and hippocampus of the rat Brain Res. Mol. Brain Res. 32 1995 1 13