Point mutations in a distant sonic hedgehog cis -regulator generate a variable regulatory
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Transcript of Point mutations in a distant sonic hedgehog cis -regulator generate a variable regulatory
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Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatoryoutput responsible for preaxial polydactyly
Laura A. Lettice, Alison E. Hill, Paul S. Devenney and Robert E. Hill
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Polydactyly
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Sonic hedgehog is a morphogen that plays a key role in regulating vertebrate organogenesis, such as in the growth of digits on limbs and organization of the brain
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What’s the Hypothesis?
Which are the predictions and methods?
ZRS mutations cause polydactyly in cats and they generate a plastic
regulatory response
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GENE REGULATION
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Are there mutations in the ZRS that cause polydactyly in domestic cats?
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Is Human preaxial polydactyly (PPD) associated point mutations generate a plastic regulatory response?
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Is the cat Hw mutation forelimb specific? Do neighboring mutations have different activities?
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Interesting quotes:
“The unlikely scenario is that each mutation causes ectopic expression by its own unique mechanism and therefore, we predict it is more likely that the point mutations, perhaps by a number of different routes, affect a general property of the cis-regulator.”
“In addition, the basis for differences between species may be changes at the level of gene regulation. In accord, our analysis showed that point mutations in a key developmentalcis-regulator can result in additional skeletal elements supporting the notion that small regulatory changes can have profound affects on the morphology of the animal.”