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Article

A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb.

Human molecular genetics - 15 Aug 2008

Furniss Dominic, Lettice Laura A, Taylor Indira B, Critchley Paul S, Giele Henk, Hill Robert E, Wilkie Andrew O M

Abstract excerpt

A locus for triphalangeal thumb, variably associated with pre-axial polydactyly, was previously identified in the zone of polarizing activity regulatory sequence (ZRS), a long range limb-specific enhancer of the Sonic Hedgehog (SHH) gene at human chromosome 7q36.3. Here, we demonstrate that a 295T>C variant in the human ZRS, previously thought to represent a neutral polymorphism, acts as a dominant allele with...

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Share to Chromosomes, Human, Pair 7
Share to Enhancer Elements, Genetic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Extremities

Share to Gene Expression Regulation, Developmental

Share to Genetic Linkage

Share to Hand Deformities, Congenital

Share to Hedgehog Proteins

Share to Polydactyly

Source

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Identifiers

PMID: 18463159
DOI: 10.1093/hmg/ddn141
PMCID: PMC2486440

Genes

SHH

Provenance

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Related research

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A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb.PMID 18463159Read ↗

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 ↗

A microduplication of the long range SHH limb regulator (ZRS) is associated with triphalangeal thumb-polysyndactyly syndrome.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 ↗

Triphalangeal thumb-polysyndactyly syndrome and syndactyly type IV are caused by genomic duplications involving the long range, limb-specific SHH enhancer.Semantic proximity Read ↗

The pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactions.Semantic proximity Read ↗

A novel ZRS mutation leads to preaxial polydactyly type 2 in a heterozygous form and Werner mesomelic syndrome in a homozygous form.Semantic proximity Read ↗

The First Patient with Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome Caused by De Novo c.423+4916 T>C ZRS Variant: A Case Report.Semantic proximity Read ↗

A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia.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 ↗

A novel ZRS mutation in a Balochi tribal family with triphalangeal thumb, pre-axial polydactyly, post-axial polydactyly, and syndactyly.Semantic proximity Read ↗

Microduplication of 7q36.3 encompassing the SHH long‑range regulator (ZRS) in a patient with triphalangeal thumb‑polysyndactyly syndrome and congenital heart disease.Semantic proximity Read ↗

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

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