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  Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans

Pak, C., Garshasbi, M., Kahrizi, K., Gross, C., Apponi, L. H., Noto, J. J., et al. (2011). Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans. Proc Natl Acad Sci U S A, 108(30), 12390-5. Retrieved from http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Citation&list_uids=21734151 http://www.pnas.org/content/108/30/12390.full.pdf.

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Pak, C., Autor
Garshasbi, M.1, Autor           
Kahrizi, K., Autor
Gross, C., Autor
Apponi, L. H., Autor
Noto, J. J., Autor
Kelly, S. M., Autor
Leung, S. W., Autor
Tzschach, A.1, Autor           
Behjati, F., Autor
Abedini, S. S., Autor
Mohseni, M., Autor
Jensen, L. R.2, Autor           
Hu, H.1, Autor           
Huang, B., Autor
Stahley, S. N., Autor
Liu, G., Autor
Williams, K. R., Autor
Burdick, S., Autor
Feng, Y., Autor
Sanyal, S., AutorBassell, G. J., AutorRopers, H. H.1, Autor           Najmabadi, H., AutorCorbett, A. H., AutorMoberg, K. H., AutorKuss, A. W.3, Autor            mehr..
Affiliations:
1Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
2Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
3Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479644              

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Schlagwörter: Adolescent; Adult; Amino Acid Sequence; Animals; Central Nervous System/physiology; Chromosome Mapping; Chromosomes, Human, Pair 14/genetics; Cohort Studies; Consanguinity; Conserved Sequence; Drosophila Proteins/*genetics/*physiology; Drosophila melanogaster/genetics/physiology; Evolution, Molecular; Female; Flight, Animal/physiology; Gene Knockdown Techniques; Genes, Recessive; Hippocampus/metabolism; Humans; Intellectual Disability/*genetics; Iran; Male; Models, Animal; Molecular Sequence Data; *Mutation; Nuclear Proteins/*genetics/*physiology; Pedigree; RNA, Messenger/genetics/metabolism; RNA-Binding Proteins/*genetics/*physiology; Sequence Homology, Amino Acid; Young Adult; Zinc Fingers/genetics
 Zusammenfassung: Here we report a human intellectual disability disease locus on chromosome 14q31.3 corresponding to mutation of the ZC3H14 gene that encodes a conserved polyadenosine RNA binding protein. We identify ZC3H14 mRNA transcripts in the human central nervous system, and we find that rodent ZC3H14 protein is expressed in hippocampal neurons and colocalizes with poly(A) RNA in neuronal cell bodies. A Drosophila melanogaster model of this disease created by mutation of the gene encoding the ZC3H14 ortholog dNab2, which also binds polyadenosine RNA, reveals that dNab2 is essential for development and required in neurons for normal locomotion and flight. Biochemical and genetic data indicate that dNab2 restricts bulk poly(A) tail length in vivo, suggesting that this function may underlie its role in development and disease. These studies reveal a conserved requirement for ZC3H14/dNab2 in the metazoan nervous system and identify a poly(A) RNA binding protein associated with a human brain disorder.

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 Datum: 2011
 Publikationsstatus: Erschienen
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Titel: Proc Natl Acad Sci U S A
Genre der Quelle: Zeitschrift
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Seiten: - Band / Heft: 108 (30) Artikelnummer: - Start- / Endseite: 12390 - 5 Identifikator: ISSN: 1091-6490 (Electronic) 0027-8424 (Linking)