Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb.

doi:10.1242/dev.01613

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Article

Elimination of a long-range cis-regulatory module causes complete loss of limb-specific Shh expression and truncation of the mouse limb.

Development (Cambridge, England) - 1 Feb 2005

Sagai Tomoko, Hosoya Masaki, Mizushina Youichi, Tamura Masaru, Shiroishi Toshihiko

Abstract excerpt

Mutations in a conserved non-coding region in intron 5 of the Lmbr1 locus, which is 1 Mb away from the sonic hedgehog (Shh) coding sequence, are responsible for mouse and human preaxial polydactyly with mirror-image digit duplications. In the mouse mutants, ectopic Shh expression is observed in the anterior mesenchyme of limb buds. Furthermore, a transgenic reporter gene flanked with this conserved non-coding...

Topics

Animals
Conserved Sequence
Extremities
Gene Expression Regulation, Developmental
Hedgehog Proteins
Introns
Limb Buds
Membrane Proteins
Mesoderm
Mice
Morphogenesis
Mutation
Oryzias
Trans-Activators

Source

Open in PubMed

Identifiers

PMID: 15677727
DOI: 10.1242/dev.01613

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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