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Title: Allelic penetrance approach as a tool to model twolocus
Author: Sepúlveda, Nuno
Paulino, Carlos Daniel
Carneiro, Jorge
Penha-Gonçalves, Carlos
Keywords: Reduced penetrance
Allelic penetrance
External penetrance
Issue Date: 2007
Publisher: Nature
Citation: Sepulveda, N., Paulino, C.D., Carneiro, J., Penha Gonçalves, C. (2007). Allelic penetrance approach as a tool to model two-locus interaction in complex binary traits. Heredity 99(2) :1-13
Abstract: Many binary phenotypes do not follow a classical Mendelian inheritance pattern. Interaction between genetic and environmental factors is thought to contribute to the incomplete penetrance phenomena often observed in these complex binary traits. Several two-locus models for penetrance have been proposed to aid the genetic dissection of binary traits. Such models assume linear genetic effects of both loci in different mathematical scales of penetrance, resembling the analytical framework of quantitative traits. However, changes in phenotypic scale are difficult to envisage in binary traits and limited genetic interpretation is extractable from current modeling of penetrance. To overcome this limitation, we derived an allelic penetrance approach that partitioned incomplete penetrance into the alleles controlling the phenotype and into the genetic background and environmental factors. We applied this approach to formulate dominance and recessiveness in a single biallelic locus and to model different genetic mechanisms for the joint action of two biallelic loci. We fit the models to data on the susceptibility of mice following infections with Listeria monocytogenes and Plasmodium berghei. These models gain in genetic interpretation, because they specify the alleles that are responsible for the genetic (inter)action and their genetic nature (dominant or recessive), and predict genotypic combinations determining the phenotype. Further, we show via computer simulations that the proposed models produce penetrance patterns not captured by traditional twolocus models. This approach provides a new analysis framework for dissecting mechanisms of interlocus joint action in binary traits using genetic crosses.
Peer review: Yes
ISSN: 0018-067X
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Appears in Collections:DG - Artigos em revistas científicas

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