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The chicken polydactyly (Po) locus causes allelic imbalance and ectopic expression of Shh during limb development


Reference:

Dunn, I. C., Paton, I. R., Clelland, A. K., Sebastian, S., Johnson, E. J., McTeir, L., Windsor, D., Sherman, A., Sang, H., Burt, D. W., Tickle, C. and Davey, M. G., 2011. The chicken polydactyly (Po) locus causes allelic imbalance and ectopic expression of Shh during limb development. Developmental Dynamics, 240 (5), pp. 1163-1172.

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Official URL:

http://dx.doi.org/10.1002/dvdy.22623

Abstract

Point mutations in the intronic ZRS region of Lmbr1, a limb specific cis-regulatory element of Sonic hedgehog (Shh), are associated with polydactyly in humans, cats, and mice. We and others have recently mapped the dominant preaxial polydactyly (Po) locus in Silkie chickens to a single nucleotide polymorphism (SNP) in the ZRS region. Using polymorphisms in the chicken Shh sequence, we confirm that the ZRS region directly regulates Shh expression in the developing limb causing ectopic Shh expression in the anterior leg, prolonged Shh expression in the posterior limb, and allelic imbalance between wt and Slk Shh alleles in heterozygote limbs. Using Silkie legs, we have explored the consequences of increased Shh expression in the posterior leg on the patterning of the toes, and the induction of preaxial polydactyly.

Details

Item Type Articles
CreatorsDunn, I. C., Paton, I. R., Clelland, A. K., Sebastian, S., Johnson, E. J., McTeir, L., Windsor, D., Sherman, A., Sang, H., Burt, D. W., Tickle, C. and Davey, M. G.
DOI10.1002/dvdy.22623
Uncontrolled Keywordssonic hedgehog, zrs, polydactyly, silkie
DepartmentsFaculty of Science > Biology & Biochemistry
RefereedYes
StatusPublished
ID Code23810

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