Recessive Epistasis in the
diploid Arginine biosynthesis pathway
Beadle
& Tatum analyzed the genetics of Arginine
biosynthesis in the haploid bread mold Neurospora.
The same pathway occurs in diploid organisms:
genetic analysis of mutant alleles affecting metabolic
intermediates of Arginine production provides a general
model for the behavior of multiple gene loci in a single
pathway.
In this pathway, Ornithine is
converted to Citrulline by the action of enzyme
Oase encoded by Gene O:
the functional wildtype allele o+
is dominant to the mutant non-functional allele o.
Similarly,
Citrulline is converted to Arginine by
the action of enzyme Case encoded by
Gene C, where c+
is dominant to c. Pure-breeding auxotrophic
parental lines of diploid c- and o-
yeast are crossed: the F1 dihybrid
offspring are all heterotrophs. A cross of these
dihybrids produces the results shown as the end-point of
synthesis in the pathway. Note that any individual with
both an o+
and a c+
allele
is able to synthesize Arginine, and any
individual with an oo genotype accumulates Ornithine
because Oase is not produced. Any
individual with a cc genotype accumulates citrulline due
to the lack of Case, except that the oocc
genotype accumulates Ornithine, the previous
intermediate in the pathway, because the oo genotype
blocked the pathway prior to the production of Citrulline.
That is, a recessive genotype at Gene O
suppresses expression of the next gene in the
pathway, Gene C.
Homework: Predict
and/or construct Punnet squares to show the consequences
of PpOo and PpCc dihybrid crosses, and
PpOoCc tri-hybrid crosses, assuming complete
dominance of the p+, o+,
and c+ alleles.
Homework: Recall the
growth / no-growth phenotypes of Neurospora as
a consequence of synthesis or non-synthesis of Arginine.
In the yeast example, note that both the cc and
oo genotypes fail to produce Arginine,
and in consequence are auxotrophic. How does the
resultant ratio compare with other forms of epistatic
interaction between loci?