Nucleic Acids Research, Vol 27, Issue 18 3762-3769, Copyright © 1999 by Oxford University Press
JJ Sekelsky, MH Brodsky, GM Rubin and RS Hawley
Members of the RecQ helicase superfamily have been implicated in DNA
repair, recombination and replication. Although the genome of the budding
yeast Saccharomyces cerevisiae encodes only a single member of this family,
there are at least five human RecQ-related genes: RecQL, BLM, WRN, RecQ4
and RecQ5. Mutations in at least three of these are associated with
diseases involving a predisposition to malignancies and a cellular
phenotype that includes increased chromosome instability. Metazoan RecQ
helicases are defined by a core region with characteristic helicase motifs
and sequence similarity to Escherichia coli RecQ protein. This core region
is typically flanked by extensive, highly charged regions, of largely
unknown function. The recently reported human RecQ5, however, has only the
core RecQ-homologous region. We describe here the identification of the
Drosophila RecQ5 gene. We recovered cDNAs corresponding to three
alternative splice forms of the RecQ5 transcript. Two of these generate
nearly identical 54 kDa proteins that, like human RecQ5, consist of the
helicase core only. The third splice variant encodes a 121 kDa isoform
that, like other family members, has a C-terminal extension rich in charged
residues. A combination of RACE and cDNA analysis of human RECQ5
demonstrates extensive alternative splicing for this gene also, including
some forms lacking helicase motifs and other conserved regions.
ARTICLES
Drosophila and human RecQ5 exist in different isoforms generated by alternative splicing
Section of MCB, University of California, Davis, CA 95616, USA. sekelsky@email.unc.edu
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