Worm Breeder's Gazette 11(2): 83

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.

On the Isolation of Spontaneous Duplications

K.S. McKim and A.M. Rose

Mapping of the spontaneous duplications against him-1 mutations has 
been complex.  him-1 was originally mapped to the interval between unc-
38 and dpy-5 (Hodgkin et al.  1979: Genetics 91: 61).  Our duplication 
mapping with most duplications is in agreement with this result (see 
map in accompanying article).  In contrast, two of the unc-68(+); 
spontaneous duplications, hDp21 and hDp79, plus 
hDp21, which is probably spontaneous but this is not known for sure, 
were him-1(-).  These three duplications failed to complement the 
lethal phenotype of him-1(h134) and in addition, hDp21 failed to 
complement the Him phenotype of the viable allele e879.
To explain these results and be consistent with the original him-1 
position, we propose that in the formation of hDp21, hDp23 and hDp79, 
a new him-1 mutation was induced on the duplication chromosome.  The 
duplication that complements him-1(h134) with the right-most 
breakpoint is hDp76.  In addition to hDp21, hDp23 and hDp79, hDp29 and 
hDp59 are also him-1(-) despite having a breakpoint to the left of 
hDp76.  A total of eight spontaneous duplications with a breakpoint to 
the left of hDp76 have been isolated and four of these are associated 
with a him-1 mutation.  All of the progenitor duplications were tested 
and found to be him-1(+).  There is either a very high mutation rate 
at the him-1 locus when a duplication spontaneously shortens, or the 
him-1 gene is inactivated by another mechanism, such as position 
effects, relating to the structure of the duplications.  These 
observations and those described in the accompanying article indicate 
there are some complex changes during spontaneous duplication breakage.

Three shortening events were associated with attachment to another 
intact chromosome.  All of these chromosomes are viable and stable as 
homozygotes.  hDp78 is linked to unc-54 at the right end of chromosome 
I.  hDp79, a spontaneous derivative of hDp6, is linked to an autosome 
we have not identified.  hDp83 (not shown in figure), a spontaneous 
derivative of hDp26, is tightly linked to dpy-9(IV).  Although 
attachment of duplications to an autosome is accompanied by deletion 
of material from the parental chromosome, these events are rare.  An 
unbiased set of fourteen spontaneous duplications were analyzed and 
all of them were free.
Is breakage and healing of duplications restricted to meiosis, or 
can it also occur during mitotic proliferation of the germ line?  If a 
duplication were to lose material during the mitotic divisions in the 
germ line, then one would expect to recover more than one exceptional 
duplication from a single worm.  In all cases where it has been 
possible to observe a cluster, only a single exceptional duplication 
was produced by any one worm.  This observation comes from the 
observation of 13 breakage events.  We are continuing the search for 
pre-meiotic breakage and healing events.  This evidence suggests, but 
does not prove, breakage and healing events are restricted to meiosis 
or events soon after.
[Figure not provided in 
original]