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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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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7978-B Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-7979-9
Genre: Journal Article

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Pak, C., Author
Garshasbi, M.1, Author              
Kahrizi, K., Author
Gross, C., Author
Apponi, L. H., Author
Noto, J. J., Author
Kelly, S. M., Author
Leung, S. W., Author
Tzschach, A.1, Author              
Behjati, F., Author
Abedini, S. S., Author
Mohseni, M., Author
Jensen, L. R.2, Author              
Hu, H.1, Author              
Huang, B., Author
Stahley, S. N., Author
Liu, G., Author
Williams, K. R., Author
Burdick, S., Author
Feng, Y., Author
Sanyal, S., AuthorBassell, G. J., AuthorRopers, H. H.1, Author              Najmabadi, H., AuthorCorbett, A. H., AuthorMoberg, K. H., AuthorKuss, A. W.3, Author               more..
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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Free keywords: 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
 Abstract: 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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 Dates: 2011
 Publication Status: Published in print
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Title: Proc Natl Acad Sci U S A
Source Genre: Journal
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Pages: - Volume / Issue: 108 (30) Sequence Number: - Start / End Page: 12390 - 5 Identifier: ISSN: 1091-6490 (Electronic) 0027-8424 (Linking)