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Nat Genet. 1996 Mar;12(3):260-5.

The quaking gene product necessary in embryogenesis and myelination combines features of RNA binding and signal transduction proteins.

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1
Department of Zoology, The University of Texas at Austin, 78712-1064, USA.

Abstract

The mouse quaking gene, essential for nervous system myelination and survival of the early embryo has been positionally cloned. Its sequence implies that the locus encodes a multifunctional gene used in a specific set of developing tissues to unite signal transduction with some aspect of RNA metabolism. The quaking(viable) (qkv) mutation has one class of messages truncated by a deletion. An independent ENU-induced mutation has a nonconservative amino acid change in one of two newly identified domains that are conserved from the C. elegans gld-1 tumour suppressor gene to the human Src-associated protein Sam68. The size and conservation of the quaking gene family implies that the pathway defined by this mutation may have broad relevance for rapid conveyance of extracellular information directly to primary gene transcripts.

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PMID:
8589716
DOI:
10.1038/ng0396-260
[Indexed for MEDLINE]

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