A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
dc.contributor.author | MacDonald, Marcy E. | en_US |
dc.contributor.author | Ambrose, Christine M. | en_US |
dc.contributor.author | Duyao, Mabel P. | en_US |
dc.contributor.author | Myers, Richard H. | en_US |
dc.contributor.author | Lin, Carol | en_US |
dc.contributor.author | Srinidhi, Lakshmi | en_US |
dc.contributor.author | Barnes, Glenn | en_US |
dc.contributor.author | Taylor, Sherryl A. | en_US |
dc.contributor.author | James, Marianne | en_US |
dc.contributor.author | Groot, Nicolet | en_US |
dc.date.accessioned | 2006-05-10T15:39:25Z | |
dc.date.available | 2006-05-10T15:39:25Z | |
dc.date.issued | 1993-03-26 | en_US |
dc.identifier.citation | MacDonald, Marcy E., Ambrose, Christine M., Duyao, Mabel P., Myers, Richard H., Lin, Carol, Srinidhi, Lakshmi, Barnes, Glenn, Taylor, Sherryl A., James, Marianne, Groot, Nicolet (1993/03/26)."A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes." Cell 72(6): 971-983. <http://hdl.handle.net/2027.42/30901> | en_US |
dc.identifier.uri | http://www.sciencedirect.com/science/article/B6WSN-4D0YB83-3V/2/df3c56108a63757877f083207f1a9366 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/30901 | |
dc.description.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, 1715, 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 4p 16.3 haplotypes. The (CAG)n repeat appears to be located within the coding sequence of a predicted [approximate]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. | en_US |
dc.format.extent | 81115 bytes | |
dc.format.extent | 3118 bytes | |
dc.format.extent | 1519562 bytes | |
dc.format.mimetype | text/plain | |
dc.format.mimetype | text/plain | |
dc.format.mimetype | application/pdf | |
dc.language.iso | en_US | en_US |
dc.publisher | Elsevier | en_US |
dc.title | A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes | en_US |
dc.type | Article | en_US |
dc.rights.robots | IndexNoFollow | en_US |
dc.subject.hlbsecondlevel | Molecular, Cellular and Developmental Biology | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.subject.hlbtoplevel | Health Sciences | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationother | Molecular Neurogenetics Unit Massachusetts General Hospital and Department of Genetics Harvard Medical School, Boston, Massachusetts 02114, USA | en_US |
dc.contributor.affiliationother | Molecular Neurogenetics Unit Massachusetts General Hospital and Department of Genetics Harvard Medical School, Boston, Massachusetts 02114, USA | en_US |
dc.contributor.affiliationother | Molecular Neurogenetics Unit Massachusetts General Hospital and Department of Genetics Harvard Medical School, Boston, Massachusetts 02114, USA | en_US |
dc.contributor.affiliationother | Department of Neurology Boston University Medical School, Boston, Massachusetts 02118, USA | en_US |
dc.contributor.affiliationother | Molecular Neurogenetics Unit Massachusetts General Hospital and Department of Genetics Harvard Medical School, Boston, Massachusetts 02114, USA | en_US |
dc.contributor.affiliationother | Molecular Neurogenetics Unit Massachusetts General Hospital and Department of Genetics Harvard Medical School, Boston, Massachusetts 02114, USA | en_US |
dc.contributor.affiliationother | Molecular Neurogenetics Unit Massachusetts General Hospital and Department of Genetics Harvard Medical School, Boston, Massachusetts 02114, USA | en_US |
dc.contributor.affiliationother | Molecular Neurogenetics Unit Massachusetts General Hospital and Department of Genetics Harvard Medical School, Boston, Massachusetts 02114, USA | en_US |
dc.contributor.affiliationother | Molecular Neurogenetics Unit Massachusetts General Hospital and Department of Genetics Harvard Medical School, Boston, Massachusetts 02114, USA | en_US |
dc.contributor.affiliationother | Molecular Neurogenetics Unit Massachusetts General Hospital and Department of Genetics Harvard Medical School, Boston, Massachusetts 02114, USA | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/30901/3/0000570.pdf | en_US |
dc.identifier.doi | http://dx.doi.org/10.1016/0092-8674(93)90585-E | en_US |
dc.identifier.source | Cell | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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