1993
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
MacDonald M, Ambrose C, Duyao M, Myers R, Lin C, Srinidhi L, Barnes G, Taylor S, James M, Groot N, MacFarlane H, Jenkins B, Anderson M, Wexler N, Gusella J, Bates G, Baxendale S, Hummerich H, Kirby S, North M, Youngman S, Mott R, Zehetner G, Sedlacek Z, Poustka A, Frischauf A, Lehrach H, Buckler A, Church D, Doucette-Stamm L, O'Donovan M, Riba-Ramirez L, Shah M, Stanton V, Strobel S, Draths K, Wales J, Dervan P, Housman D, Altherr M, Shiang R, Thompson L, Fielder T, Wasmuth J, Tagle D, Valdes J, Elmer L, Allard M, Castilla L, Swaroop M, Blanchard K, Collins F, Snell R, Holloway T, Gillespie K, Datson N, Shaw D, Harper P. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993, 72: 971-983. PMID: 8458085, DOI: 10.1016/0092-8674(93)90585-e.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceBase SequenceChromosomes, Human, Pair 4Cloning, MolecularExonsGene ExpressionGenesHumansHuntington DiseaseMolecular Sequence DataMutationOligodeoxyribonucleotidesPedigreePolymerase Chain ReactionPolymorphism, GeneticRepetitive Sequences, Nucleic AcidRestriction MappingRNA, MessengerConceptsDisease genesTrinucleotide repeatsUnstable DNA segmentDisease chromosomesFragile X syndromeNew genesNovel genesSpino-bulbar muscular atrophyDNA segmentsHuntington's disease geneDominant phenotypeKD proteinGenesChromosomesLinkage disequilibriumHD chromosomesX syndromeHuntington's disease chromosomesRepeatsHaplotype analysisDisease familiesPolymorphic trinucleotide repeatHD mutationMyotonic dystrophyExons
1991
Site-Specific Cleavage of Human Chromosome 4 Mediated by Triple-Helix Formation
Strobel S, Doucette-Stamm L, Riba L, Housman D, Dervan P. Site-Specific Cleavage of Human Chromosome 4 Mediated by Triple-Helix Formation. Science 1991, 254: 1639-1642. PMID: 1836279, DOI: 10.1126/science.1836279.Peer-Reviewed Original ResearchConceptsHuman chromosome 4Human chromosomesChromosome 4Disease genesTriple helix formationEntire candidate regionSpecific DNA segmentsCandidate gene lociSite-specific cleavageGigabase pairsHuman genomeEnzymatic cleavageRecognition motifDNA segmentsGene locusGenomic DNAHuntington's disease geneHuman geneticsTarget siteChromosomesSized fragmentsCandidate regionsCleavageGenomePhysical isolation