{"doi":"10.1016/0092-8674(93)90585-e","title":"A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes","abstract":"The Huntington's disease (HD) gene has been mapped in 4p16.3 but has eluded identification. We have used haplotype analysis of linkage disequilibrium to spotlight a small segment of 4p16.3 as the likely location of the defect. A new gene, IT15, isolated using cloned trapped exons from the target area contains a polymorphic trinucleotide repeat that is expanded and unstable on HD chromosomes. A (CAG)n repeat longer than the normal range was observed on HD chromosomes from all 75 disease families examined, comprising a variety of ethnic backgrounds and 4p16.3 haplotypes. The (CAG)n repeat appears to be located within the coding sequence of a predicted approximately 348 kd protein that is widely expressed but unrelated to any known gene. Thus, the HD mutation involves an unstable DNA segment, similar to those described in fragile X syndrome, spino-bulbar muscular atrophy, and myotonic dystrophy, acting in the context of a novel 4p16.3 gene to produce a dominant phenotype.","journal":"Cell","year":1993,"id":4969,"datarank":20.622079133998405,"base_score":9.035153304082828,"endowment":9.035153304082828,"self_citation_contribution":1.3552729956124243,"citation_network_contribution":19.26680613838598,"self_endowment_contribution":1.3552729956124243,"citer_contribution":19.26680613838598,"corpus_percentile":94.4,"corpus_rank":1361,"citation_count":8392,"citer_count":193,"citers_with_citation_signal":193,"citers_with_endowment":193,"datacite_reuse_total":0,"is_dataset":false,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"1993-03-01","authors":[{"id":50994,"name":"Marcy E. MacDonald","orcid":null,"position":1,"is_corresponding":false},{"id":50993,"name":"M MACDONALD","orcid":null,"position":0,"is_corresponding":true}],"reference_count":66,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-03-01T18:20:47.508186Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}