Abstract
BackgroundSince the dawn of genetics, additive and dominant gene action in diploids have been defined by comparison of heterozygote and homozygote phenotypes. However, these definitions provide little insight into the underlying intralocus allelic functional dependency and thus cannot serve directly as a mediator between genetics theory and regulatory biology, a link that is sorely needed.Methodology/Principal FindingsWe provide such a link by distinguishing between positive, negative and zero allele interaction at the genotype level. First, these distinctions disclose that a biallelic locus can display 18 qualitatively different allele interaction sign motifs (triplets of +, – and 0). Second, we show that for a single locus, Mendelian dominance is not related to heterozygote allele interaction alone, but is actually a function of the degrees of allele interaction in all the three genotypes. Third, we demonstrate how the allele interaction in each genotype is directly quantifiable in gene regulatory models, and that there is a unique, one-to-one correspondence between the sign of autoregulatory feedback loops and the sign of the allele interactions.Conclusion/SignificanceThe concept of allele interaction refines single locus genetics substantially, and it provides a direct link between classical models of gene action and gene regulatory biology. Together with available empirical data, our results indicate that allele interaction can be exploited experimentally to identify and explain intricate intra- and inter-locus feedback relationships in eukaryotes.
Highlights
IntroductionGregor Mendel’s finding that hereditary units could be associated with particular observable traits and that in diploid organisms the apparent contribution from the two parents to a trait could be highly asymmetrical [1], led to the concepts additive and dominant (nonadditive) gene actions as well as the closely associated term recessive gene action
Gregor Mendel’s finding that hereditary units could be associated with particular observable traits and that in diploid organisms the apparent contribution from the two parents to a trait could be highly asymmetrical [1], led to the concepts additive and dominant gene actions as well as the closely associated term recessive gene action
Notwithstanding the complex evolution of the gene concept in the molecular biology community [4], and that it has been known for a long time that the mRNA production from two alleles physically positioned on homologous chromosomes may be functionally dependent [5], the relational gene action concepts, based on an abstract gene notion, became part of the modern molecular genetics vocabulary without any semantic change
Summary
Gregor Mendel’s finding that hereditary units could be associated with particular observable traits and that in diploid organisms the apparent contribution from the two parents to a trait could be highly asymmetrical [1], led to the concepts additive and dominant (nonadditive) gene actions as well as the closely associated term recessive gene action. All three concepts have played a key role in the development of population genetics and quantitative genetics theory in evolutionary biology, production biology and biomedicine. Despite that much of current genetics theory is founded on biallelic single locus genetics, the basic gene action concepts used to construct the theory only depend on genotypes and their relative positions to each other. Since the dawn of genetics, additive and dominant gene action in diploids have been defined by comparison of heterozygote and homozygote phenotypes. These definitions provide little insight into the underlying intralocus allelic functional dependency and cannot serve directly as a mediator between genetics theory and regulatory biology, a link that is sorely needed
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