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Journal ArticleDOI

A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36.

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TLDR
A detailed physical map of the preaxial polydactyly candidate region is constructed and the homeobox gene HLXB9, a putative receptor C7orf2, and two transcripts of unknown function map in the refined candidate region.
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This article is published in Genomics.The article was published on 1999-05-01. It has received 72 citations till now. The article focuses on the topics: Preaxial polydactyly & Polydactyly.

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Citations
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Journal ArticleDOI

A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly

TL;DR: It is shown that the chromosome 7q36 associated preaxial polydactyly, a frequently observed congenital limb malformation, results from point mutations in a Shh regulatory element, a regulator that lies within intron 5 of the Lmbr1 gene 1 Mb from the target gene Shh.
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Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly.

TL;DR: A translocation breakpoint in a PPD patient and a transgenic insertion site in the polydactylous mouse mutant sasquatch reveals that the Lmbr1 gene is incidental to the phenotype and that the mutation directly interrupts a cis-acting regulator of Shh, most likely the target for generating PPD mutations in human.
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Vertebrate limb bud development : moving towards integrative analysis of organogenesis

TL;DR: In this article, the authors discuss models of limb development and attempt to integrate the current knowledge of the signalling interactions that govern limb skeletal development into a systems model, which provides insights into how the specification and proliferative expansion of the anteroposterior and proximodistal limb bud axes are coordinately controlled in time and space.
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Point mutations in a distant sonic hedgehog cis-regulator generate a variable regulatory output responsible for preaxial polydactyly

TL;DR: The polydactyly mutations define a new genetic mechanism that results in human congenital abnormalities and identifies a pathogenetic mechanism that may underlie other congenital diseases.
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Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog (Shh)

TL;DR: A sequence in intron 5 of the Lmbr1 gene, which resides approximately 1 Mb from the Shh coding region in the mouse genome, is highly conserved among teleost fishes and throughout the tetrapod lineage and is suggested to be a cis-acting regulator that controls the polarized expression of Shh.
References
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Book

Molecular Cloning: A Laboratory Manual

TL;DR: Molecular Cloning has served as the foundation of technical expertise in labs worldwide for 30 years as mentioned in this paper and has been so popular, or so influential, that no other manual has been more widely used and influential.
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Genomic sequencing

TL;DR: The genomic sequencing procedures are applicable to the analysis of genetic polymorphisms, DNA methylation at deoxycytidines, and nucleic acid-protein interactions at single nucleotide resolution.
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A knowledge base for predicting protein localization sites in eukaryotic cells

TL;DR: An expert system is reported for predicting localization sites of proteins only from the information on the amino acid sequence and the source origin, which is powerful and flexible enough to be used in genome analyses.
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In vivo footprinting of a muscle specific enhancer by ligation mediated PCR

TL;DR: In vivo protein-DNA interactions at the developmentally regulated enhancer of the mouse muscle creatine kinase gene were examined by a newly developed polymerase chain reaction (PCR) footprinting procedure and imply that additional regulatory mechanisms must restrict the interaction between this protein and its target site prior to differentiation.
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