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Showing posts from June, 2012

Probabilistic inheritance and neurodevelopmental phenotypes: location, location, location

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Following a stimulating discussion with Jon Brock on the variability of the phenotype in autism and dyslexia, I thought I would explore a little more the influence of randomness on the phenotypic expression of mutations affecting neurodevelopmental processes. I have written about this before, in general terms, but here want to discuss one particular aspect – how probabilistic inheritance of a defect at a cell biological level is played out across the brain and how this influences the emergent phenotype of the individual.
Developmental neurobiologists are well used to the scenario where mutation of a gene leads to an anatomical defect, but only some of the time. Depending on the scale at which the defect is defined that can mean “in only some individuals” – for example, whether the connections between the two hemispheres of the brain form.In genetically identical people (or animals) carrying a mutation affecting this process these connections sometimes form normally and sometimes do no…