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

I C Dunn, I R Paton, A K Clelland, S Sebastian, E J Johnson, L McTeir, D Windsor, A Sherman, H Sang, D W Burt, Cheryll Tickle, M G Davey

Research output: Contribution to journalArticle

33 Citations (Scopus)

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.
Original languageEnglish
Pages (from-to)1163-1172
Number of pages10
JournalDevelopmental Dynamics
Volume240
Issue number5
DOIs
Publication statusPublished - May 2011

Fingerprint

Allelic Imbalance
Polydactyly
Hedgehogs
Chickens
Extremities
Leg
Toes
Heterozygote
Ectopic Gene Expression
Point Mutation
Single Nucleotide Polymorphism
Cats
Alleles

Keywords

  • Sonic hedgehog
  • ZRS
  • polydactyly
  • silkie

Cite this

Dunn, I. C., Paton, I. R., Clelland, A. K., Sebastian, S., Johnson, E. J., McTeir, L., ... Davey, M. G. (2011). The chicken polydactyly (Po) locus causes allelic imbalance and ectopic expression of Shh during limb development. Developmental Dynamics, 240(5), 1163-1172. https://doi.org/10.1002/dvdy.22623

The chicken polydactyly (Po) locus causes allelic imbalance and ectopic expression of Shh during limb development. / 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, Cheryll; Davey, M G.

In: Developmental Dynamics, Vol. 240, No. 5, 05.2011, p. 1163-1172.

Research output: Contribution to journalArticle

Dunn, IC, Paton, IR, Clelland, AK, Sebastian, S, Johnson, EJ, McTeir, L, Windsor, D, Sherman, A, Sang, H, Burt, DW, Tickle, C & Davey, MG 2011, 'The chicken polydactyly (Po) locus causes allelic imbalance and ectopic expression of Shh during limb development', Developmental Dynamics, vol. 240, no. 5, pp. 1163-1172. https://doi.org/10.1002/dvdy.22623
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, Cheryll ; Davey, M G. / The chicken polydactyly (Po) locus causes allelic imbalance and ectopic expression of Shh during limb development. In: Developmental Dynamics. 2011 ; Vol. 240, No. 5. pp. 1163-1172.
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