Chromosome substitution strain assessment of a Huntington’s disease modifier locus

• Published in: Mammalian genome Vol. 26; no. 3-4; pp. 119 - 130
• Main Authors: Ramos, Eliana Marisa, Kovalenko, Marina, Guide, Jolene R., St. Claire, Jason, Gillis, Tammy, Mysore, Jayalakshmi S., Sequeiros, Jorge, Wheeler, Vanessa C., Alonso, Isabel, MacDonald, Marcy E.
• Format: Journal Article
• Language: English
• Published: Boston Springer US 01.04.2015; Springer Nature B.V
• Subjects: Alleles; Animal Genetics and Genomics; Animals; Biomedical and Life Sciences; Body Weight; Cell Biology; chromosome substitution; Chromosomes, Human; Chromosomes, Mammalian; Crosses, Genetic; crossing; Disease Models, Animal; Dopamine and cAMP-Regulated Phosphoprotein 32 - genetics; Dopamine and cAMP-Regulated Phosphoprotein 32 - metabolism; Female; Gene Knock-In Techniques; genes; Genetic Variation; Genomic Instability; Genotype; Human Genetics; Humans; Huntingtin Protein; Huntington Disease - genetics; Life Sciences; liver; loci; Male; Mice; Mice, Transgenic; Mutation; Nerve Tissue Proteins - genetics; neurodegenerative diseases; Neurons - metabolism; Phenotype; progeny; Quantitative Trait Loci; Trinucleotide Repeats; weight gain; Mutant Huntingtin; Somatic Instability; Intranuclear Inclusion; Repeat Instability; Chromosome Substitution Strain

Huntington’s disease (HD) is a dominant neurodegenerative disorder that is due to expansion of an unstable HTT CAG repeat for which genome-wide genetic scans are now revealing chromosome regions that contain disease-modifying genes. We have explored a novel human–mouse cross-species functional prior...