Journal ArticleDOI
A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36.
Henk C. Heus,Anne Hing,Marijke J. van Baren,Marijke Joosse,Guido J. Breedveld,J. C. Wang,Andrea K. Burgess,Helen Donnis-Keller,Cathleen Berglund,J. Zguricas,Stephen W. Scherer,Johanna M. Rommens,Ben A. Oostra,Peter Heutink +13 more
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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.About:
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.read more
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
Laura A. Lettice,Simon J. H. Heaney,Lorna A. Purdie,Li Li,Philippe de Beer,Ben A. Oostra,Debbie K. Goode,Greg Elgar,Robert E. Hill,Esther de Graaff +9 more
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.
Journal ArticleDOI
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly.
Laura A. Lettice,Taizo Horikoshi,Simon J. H. Heaney,Marijke J. van Baren,Herma C. van der Linde,Guido J. Breedveld,Marijke Joosse,Nurten A. Akarsu,Ben A. Oostra,Naoto Endo,Minoru Shibata,Mikio Suzuki,Ei-ichi Takahashi,Toshikatsu Shinka,Yutaka Nakahori,Dai Ayusawa,Kazuhiko Nakabayashi,Stephen W. Scherer,Peter Heutink,Robert E. Hill,Sumihare Noji +20 more
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.
Journal ArticleDOI
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.
Journal ArticleDOI
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.
Journal ArticleDOI
Phylogenetic conservation of a limb-specific, cis-acting regulator of Sonic hedgehog (Shh)
Tomoko Sagai,Hiroshi Masuya,Masaru Tamura,Kunihiko Shimizu,Yukari Yada,Shigeharu Wakana,Yoichi Gondo,Tetsuo Noda,Toshihiko Shiroishi +8 more
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.
Journal ArticleDOI
Genomic sequencing
George M. Church,Walter Gilbert +1 more
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.
Journal ArticleDOI
Large-Scale Identification, Mapping, and Genotyping of Single-Nucleotide Polymorphisms in the Human Genome
David G. Wang,Jian-Bing Fan,Jian-Bing Fan,Chia-Jen Siao,Chia-Jen Siao,Anthony Berno,Anthony Berno,Peter M. Young,Peter M. Young,Ron Sapolsky,Ron Sapolsky,Ghassan Ghandour,Ghassan Ghandour,Nancy Perkins,Nancy Perkins,Ellen Winchester,Ellen Winchester,Jessica B. Spencer,Jessica B. Spencer,Leonid Kruglyak,Leonid Kruglyak,Lincoln Stein,Lincoln Stein,Linda Hsie,Linda Hsie,Thodoros Topaloglou,Thodoros Topaloglou,Earl Hubbell,Earl Hubbell,Elizabeth M. Robinson,Elizabeth M. Robinson,Michael P. Mittmann,Michael P. Mittmann,Macdonald S. Morris,Macdonald S. Morris,Naiping Shen,Naiping Shen,Dan Kilburn,Dan Kilburn,John D. Rioux,John D. Rioux,Chad Nusbaum,Chad Nusbaum,Steve Rozen,Steve Rozen,Thomas J. Hudson,Thomas J. Hudson,Robert J. Lipshutz,Robert J. Lipshutz,Mark S. Chee,Mark S. Chee,Eric S. Lander,Eric S. Lander +52 more
TL;DR: A large-scale survey for SNPs was examined by a combination of gel-based sequencing and high-density variation-detection DNA chips, and a genetic map was constructed showing the location of 2227 candidate SNPs.
Journal ArticleDOI
A knowledge base for predicting protein localization sites in eukaryotic cells
Kenta Nakai,Minoru Kanehisa +1 more
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.
Journal ArticleDOI
In vivo footprinting of a muscle specific enhancer by ligation mediated PCR
Paul R. Mueller,Barbara J. Wold +1 more
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.
Related Papers (5)
Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly.
Laura A. Lettice,Taizo Horikoshi,Simon J. H. Heaney,Marijke J. van Baren,Herma C. van der Linde,Guido J. Breedveld,Marijke Joosse,Nurten A. Akarsu,Ben A. Oostra,Naoto Endo,Minoru Shibata,Mikio Suzuki,Ei-ichi Takahashi,Toshikatsu Shinka,Yutaka Nakahori,Dai Ayusawa,Kazuhiko Nakabayashi,Stephen W. Scherer,Peter Heutink,Robert E. Hill,Sumihare Noji +20 more