RGD Reference Report - Trinucleotide repeat elongation in the Huntingtin gene in Huntington disease patients from 71 Danish families. - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

Trinucleotide repeat elongation in the Huntingtin gene in Huntington disease patients from 71 Danish families.

Authors: Norremolle, A  Riess, O  Epplen, JT  Fenger, K  Hasholt, L  Sorensen, SA 
Citation: Norremolle A, etal., Hum Mol Genet. 1993 Sep;2(9):1475-6.
RGD ID: 10403029
Pubmed: PMID:8242074   (View Abstract at PubMed)

IT15 is a novel gene, localized to chromosome 4, and encoding a protein named Huntingtin. A polymorphic CAG repeat in the proposed open reading frame of IT15 has been characterized, and an elongation of this repeat has been correlated to Huntington's Disease. We have investigated the CAG repeat in the Huntingtin gene in 71 unrelated Danish patients with Huntington's Disease, and found repeat lengths of 39 to 70 repeat units in contrast to 9 to 30 CAG's on normal chromosomes. Comparison of repeat length and age at onset of disease symptoms in 52 individuals indicates an inverse correlation between the age at onset and the number of CAG repeat units.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
HTTHumanHuntington's disease onsetIAGP DNA:repeats:cds:CAG (human)RGD 
HttRatHuntington's disease onsetISOHTT (Homo sapiens)DNA:repeats:cds:CAG (human)RGD 
HttMouseHuntington's disease onsetISOHTT (Homo sapiens)DNA:repeats:cds:CAG (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Htt  (huntingtin)

Genes (Mus musculus)
Htt  (huntingtin)

Genes (Homo sapiens)
HTT  (huntingtin)


Additional Information