Worm Breeder's Gazette 11(2): 27

These abstracts should not be cited in bibliographies. Material contained herein should be treated as personal communication and should be cited as such only with the consent of the author.

Gene Conversion of a Chromosomal Homolog by a Single Stranded Synthetic Oligonucleotide

C. Mello, J. Kramer, D. Stinchcomb and V. Ambros

We have begun an analysis of homologous recombination following 
microinjection of DNA into the gonadal syncytium.  Following their 
introduction into C.  elegans.  DNA molecules do appear to recombine 
within shared homologous regions (D.  Stinchcomb and J.  Shaw, and A.  
Fire).  In order to investigate the frequency of these reactions, we 
constructed plasmids carrying either 5' or 3' deletions of the rol-6(
su1006) semi-dominant right roller gene.  When injected independently 
these partial genes fail to produce roller transformants.  However 
when two deleted rol-6 genes sharing only 600bp of homology within the 
gene were coinjected at 100 g/ml each, they yielded an average of 20 
F1 rollers per injected animal, a frequency approaching that observed 
for injection of the intact rol-6 gene.  When the shared region was 
reduced to 290bp the efficiency dropped to less than one F1 roller per 
injected animal.  Southern analysis of DNA isolated from transgenic 
lines indicates that a substantial amount (~5-10%) of the injected DNA 
has undergone recombination within the shared region.  The high 
frequency of homologous interaction between plasmids coinjected into 
the syncytial gonad suggests that even much rarer events such as 
recombination between an injected sequence and its chromosomal homolog 
might be detected with this technique.
Recombination with homologous chromosomal sequences has been 
observed on a few occasions following injection of DNA into C.  
elegans oocytes (Boverman et al, wbg vol.  11 #1, and A.  Fire 
personal communication).  We have begun looking for such events 
following syncytial injection of single stranded oligonucleotides.  We 
have chosen single stranded oligos for three reasons: they are not 
expected to produce a transformed phenotype without interacting with 
chromosomal DNA, they can be introduced in large molar quantities and 
finally, they have been shown to be efficient substrates for the gene 
conversion of yeast and mammalian genes (Moerschell, R.P.  et al, PNAS 
USA 83:5587-5591 and Campbell, C.R., et al, Science, in press).  In 
our initial experiment we synthesized a 50mer containing the single 
nucleotide change found in rol-6(su1006).  This nucleotide change also 
causes an allele specific restriction site polymorphism eliminating an 
AatII site.  From ~500 animals injected with 0.6mg/ml oligo, we 
obtained a single F1 roller which proved to be heterozygous for both 
the roller mutation and the predicted AatII polymorphism.
Although the previous experiment required only ~9 hours of injection 
time, over 100 hours were spent scoring for transformants.  We are 
investigating genetic systems in which a selection for the gene 
conversion event will reduce time spent staring at worms.  Along these 
lines we have begun injecting a wild type oligo in an effort to 
correct a recessive ts-lethal mutation in emb-9(g34) animals.  Due to 
a gonadal defect and a semi-dominant phenotype associated with emb-9, 
we believe that it is necessary to wait until the F2 to impose 
selection, and so far we have not observed rescue among the progeny of 
~200 injected animals.  Strategies involving F1 selection are clearly 
preferable.
In an alternative approach we have been coinjecting the rol-6 
plasmid along with oligos designed to cause recessive mutations in lin-
29 (in collaboration with Ann Rougvie) or unc-54.  The dominant right 
roller phenotype associated with the plasmid is used to identify F1 
animals exposed to the injected DNA.  The progeny of rollers are then 
scored for individuals expressing the recessive mutant phenotype.  
Using this strategy we have looked at approximately 1500 F1 rollers 
but have so far failed to detect the recessive mutations predicted by 
the oligo mediated gene conversion events.  At this stage we do not 
know how many F1 transformants we might need to look at in order to 
see the desired events, perhaps more than ten thousand.
Clearly, while conducting the experiments described above, we would 
like to be more confident that we have chosen optimal conditions for 
preparation and injection of the oligo.  A major factor controlling 
the efficiency of gene conversion must be the relative concentration 
of the oligo to its target site.  To maximize this ratio we have 
simply been using the highest concentration of oligo which does not 
appear to reduce the brood size of injected animals.  (This has 
generally proven to be not greater than 1mg/ml).  In order to shift 
this ratio further we are experimenting with the coinjection of oligo 
along with plasmid borne target sequences.  Under these conditions it 
is reasonable to expect a much higher frequency of gene conversion 
events.  Therefore we plan to use coinjection to identify how 
concentration, length, and method of preparation affect the efficiency 
of oligos as substrates for gene conversion in worms.  Ultimately we 
hope to develop a reverse genetic approach for C.  elegans which 
utilizes single stranded oligos as site directed mutagens.