Reference Report

Reference
Citation	Pak, C., Garshasbi, M., Kahrizi, K., Gross, C., Apponi, L.H., Noto, J.J., Kelly, S.M., Leung, S.W., Tzschach, A., Behjati, F., Abedini, S.S., Mohseni, M., Jensen, L.R., Hu, H., Huang, B., Stahley, S.N., Liu, G., Williams, K.R., Burdick, S., Feng, Y., Sanyal, S., Bassell, G.J., Ropers, H.H., Najmabadi, H., Corbett, A.H., Moberg, K.H., Kuss, A.W. (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--12395. (Export to RIS)
FlyBase ID	FBrf0214553
Publication Type	Research paper
PubMed ID	21734151
PubMed 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.
DOI	10.1073/pnas.1107103108
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Language of Publication	English
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Publication Type	Journal
Abbreviation	Proc. Natl. Acad. Sci. U.S.A.
Title	Proceedings of the National Academy of Sciences of the United States of America
Publication Year	1915-
ISBN/ISSN	0027-8424
Data from Reference
Aberrations (1)
	Df(3R)Exel8178
Alleles (16)
	hrg¹⁰ Nab2^EP3716 Nab2^ex1 Nab2^ex2 Nab2^ex3 Nab2^ex4 Nab2^ex5 Nab2^GD11745 Nab2^{Scer\UAS.T:Zzzz\FLAG} Pabp2⁵⁵ Pabp2^EP2264 Scer\GAL4^elav.PU Scer\GAL4^GMR.PU Scer\GAL4^Mef2.PR Scer\GAL4^Mhc.PW Scer\GAL4^Rapgap1-OK6
Constructs (6)
	P{elav-GAL4.U} P{GAL4-Mef2.R} P{GAL4-Mhc.W} P{GD11745} P{GMR-GAL4.U} P{UAS-Nab2.Flag}
Genes (8)
	brp elav hrg Lam Nab2 Pabp2 Scer\GAL4 T:Zzzz\FLAG
Insertions (2)
	P{EPgy2}EY08422 P{GawB}OK6
Natural transposons (1)
	P-element