Ta. Ebersole et al., THE QUAKING GENE-PRODUCT NECESSARY IN EMBRYOGENESIS AND MYELINATION COMBINES FEATURES OF RNA-BINDING AND SIGNAL-TRANSDUCTION PROTEINS, Nature genetics, 12(3), 1996, pp. 260-265
The mouse quaking gene, essential for nervous system myelination and s
urvival of the early embryo has been positionally cloned. Its sequence
implies that the locus encodes a multifunctional gene used in a speci
fic set of developing tissues to unite signal transduction with some a
spect of RNA metabolism. The quaking(viable) (qk(v)) 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 i
dentified domains that are conserved from the C. elegans gld-1 tumour
suppressor gene to the human Src-associated protein Sam68. The size an
d conservation of the quaking gene family implies that the pathway def
ined by this mutation may have broad relevance for rapid conveyance of
extracellular information directly to primary gene transcripts.