RGD Reference Report - Mutation of the conserved polyadenosine RNA binding protein, ZC3H14/dNab2, impairs neural function in Drosophila and humans. - Rat Genome Database

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

Authors: Pak, C  Garshasbi, M  Kahrizi, K  Gross, C  Apponi, LH  Noto, JJ  Kelly, SM  Leung, SW  Tzschach, A  Behjati, F  Abedini, SS  Mohseni, M  Jensen, LR  Hu, H  Huang, B  Stahley, SN  Liu, G  Williams, KR  Burdick, S  Feng, Y  Sanyal, S  Bassell, GJ  Ropers, HH  Najmabadi, H  Corbett, AH  Moberg, KH  Kuss, AW 
Citation: Pak C, etal., Proc Natl Acad Sci U S A. 2011 Jul 26;108(30):12390-5. doi: 10.1073/pnas.1107103108. Epub 2011 Jul 6.
RGD ID: 11552651
Pubmed: PMID:21734151   (View Abstract at PubMed)
PMCID: PMC3145741   (View Article at PubMed Central)
DOI: DOI:10.1073/pnas.1107103108   (Journal Full-text)

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.

Gene Ontology Annotations    Click to see Annotation Detail View

Cellular Component
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
nuclear speck located_inIDA 11552651PMID:21734151UniProt 

Objects Annotated

Genes (Rattus norvegicus)
Zc3h14  (zinc finger CCCH type containing 14)


Additional Information