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

Ian C Dunn, I Robert Paton, Allyson K Clelland, Sujith Sebastian, Edward J Johnson, Lynn McTeir, Dawn Windsor, Adrian Sherman, Helen Sang, Dave W Burt, Cheryll Tickle, Megan G Davey

Research output: Contribution to journalArticlepeer-review

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. Developmental Dynamics, 2011. (c) 2011 Wiley-Liss, Inc.
Original languageEnglish
Pages (from-to)1163-72
Number of pages10
JournalDevelopmental Dynamics
Volume240
Issue number5
DOIs
Publication statusPublished - 2011

Keywords

  • Silkie
  • ZRS
  • Sonic hedgehog
  • polydactyly

Fingerprint

Dive into the research topics of 'The chicken polydactyly (Po) locus causes allelic imbalance and ectopic expression of Shh during limb development'. Together they form a unique fingerprint.

Cite this