Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice

TY - JOUR

T1 - Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice

AU - Mangiarini, L

AU - Sathasivam, K

AU - Seller, M

AU - Cozens, B

AU - Harper, A

AU - Hetherington, C

AU - Lawton, M

AU - Trottier, Y

AU - Lehrach, H

AU - Davies, S W

AU - Bates, G P

PY - 1996/11/1

Y1 - 1996/11/1

N2 - Huntington's disease (HD) is one of an increasing number of neurodegenerative disorders caused by a CAG/polyglutamine repeat expansion. Mice have been generated that are transgenic for the 5' end of the human HD gene carrying (CAG)115-(CAG)150 repeat expansions. In three lines, the transgene is ubiquitously expressed at both mRNA and protein level. Transgenic mice exhibit a progressive neurological phenotype that exhibits many of the features of HD, including choreiform-like movements, involuntary stereotypic movements, tremor, and epileptic seizures, as well as nonmovement disorder components. This transgenic model will greatly assist in an eventual understanding of the molecular pathology of HD and may open the way to the testing of intervention strategies.

AB - Huntington's disease (HD) is one of an increasing number of neurodegenerative disorders caused by a CAG/polyglutamine repeat expansion. Mice have been generated that are transgenic for the 5' end of the human HD gene carrying (CAG)115-(CAG)150 repeat expansions. In three lines, the transgene is ubiquitously expressed at both mRNA and protein level. Transgenic mice exhibit a progressive neurological phenotype that exhibits many of the features of HD, including choreiform-like movements, involuntary stereotypic movements, tremor, and epileptic seizures, as well as nonmovement disorder components. This transgenic model will greatly assist in an eventual understanding of the molecular pathology of HD and may open the way to the testing of intervention strategies.

KW - Animals

KW - Brain

KW - Disease Models, Animal

KW - Exons

KW - Female

KW - Humans

KW - Huntington Disease

KW - Male

KW - Mice

KW - Mice, Neurologic Mutants

KW - Mice, Transgenic

KW - Nerve Tissue Proteins

KW - Nuclear Proteins

KW - Phenotype

KW - Spinal Cord

KW - Transgenes

KW - Trinucleotide Repeats

U2 - 10.1016/S0092-8674(00)81369-0

DO - 10.1016/S0092-8674(00)81369-0

M3 - Article

C2 - 8898202

SN - 0092-8674

VL - 87

SP - 493

EP - 506

JO - Cell

JF - Cell

IS - 3

ER -