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Article

Direct functional consequences of ZRS enhancer mutation combine with secondary long range SHH signalling effects to cause preaxial polydactyly.

Developmental biology - 15 Aug 2014

Johnson Edward J, Neely David M, Dunn Ian C, Davey Megan G

Abstract excerpt

Sonic hedgehog (SHH) plays a central role in patterning numerous embryonic tissues including, classically, the developing limb bud where it controls digit number and identity. This study utilises the polydactylous Silkie (Slk) chicken breed, which carries a mutation in the long range limb-specific regulatory element of SHH, the ZRS. Using allele specific SHH expression analysis combined with quantitative protein...

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Share to Chick Embryo
Share to Electrophoretic Mobility Shift Assay

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Enhancer Elements, Genetic

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Source

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Identifiers

PMID: 24907417
DOI: 10.1016/j.ydbio.2014.05.025
PMCID: PMC4111902

Genes

SHH
GREM1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Direct functional consequences of ZRS enhancer mutation combine with secondary long range SHH signalling effects to cause preaxial polydactyly.PMID 24907417Read ↗

The chicken polydactyly (Po) locus causes allelic imbalance and ectopic expression of Shh during limb development.Semantic proximity Read ↗

Identification of spontaneous mutations within the long-range limb-specific Sonic hedgehog enhancer (ZRS) that alter Sonic hedgehog expression in the chicken limb mutants oligozeugodactyly and silkie breed.Semantic proximity Read ↗

Alterations to the remote control of Shh gene expression cause congenital abnormalities.Semantic proximity Read ↗

Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly.Semantic proximity Read ↗

An inversion involving the mouse Shh locus results in brachydactyly through dysregulation of Shh expression.Semantic proximity Read ↗

Identification of sonic hedgehog as a candidate gene responsible for the polydactylous mouse mutant Sasquatch.Semantic proximity Read ↗

Replicated anterior zeugopod (raz): a polydactylous mouse mutant with lowered Shh signaling in the limb bud.Semantic proximity Read ↗

The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis.Semantic proximity Read ↗

Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly.Semantic proximity Read ↗

A specific mutation in the distant sonic hedgehog (SHH) cis-regulator (ZRS) causes Werner mesomelic syndrome (WMS) while complete ZRS duplications underlie Haas type polysyndactyly and preaxial polydactyly (PPD) with or without triphalangeal thumb.Semantic proximity Read ↗

The Conserved Sonic Hedgehog Limb Enhancer Consists of Discrete Functional Elements that Regulate Precise Spatial Expression.Semantic proximity Read ↗

A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome.Semantic proximity Read ↗

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