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

Nat Genet. 1996 Mar;12(3):260-5. doi: 10.1038/ng0396-260.


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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Binding Sites
  • Cloning, Molecular / methods
  • DNA Primers
  • DNA-Binding Proteins / chemistry
  • Embryonic and Fetal Development / genetics*
  • Embryonic and Fetal Development / physiology
  • Humans
  • Mice
  • Mice, Inbred DBA
  • Mice, Quaking
  • Molecular Sequence Data
  • Mutation
  • Myelin Sheath / physiology*
  • Nervous System / embryology
  • Phosphoproteins / chemistry
  • RNA, Messenger / metabolism
  • RNA-Binding Proteins / chemistry
  • RNA-Binding Proteins / genetics*
  • RNA-Binding Proteins / physiology
  • Restriction Mapping
  • Signal Transduction*


  • Adaptor Proteins, Signal Transducing
  • DNA Primers
  • DNA-Binding Proteins
  • Dok1 protein, mouse
  • GAP-associated protein p62
  • KHDRBS1 protein, human
  • Khdrbs1 protein, mouse
  • Phosphoproteins
  • QKI protein, human
  • Qk protein, mouse
  • RNA, Messenger
  • RNA-Binding Proteins

Associated data

  • GENBANK/U44940
  • GENBANK/U44941
  • GENBANK/U44942