title: Isolation and characterization of novel CAG repeat containing genes expressed in human brain.
abstract: Neurodegenerative diseases may be caused by expansion of triplet repeats in human genes. To identify novel genes with CAG repeats, we screened a human brain cDNA library with an oligonucleotide probe. Four of the isolated cDNAs were sequenced, analyzed for polymorphisms, chromosomal localization, evolutionary conservation and expression. One of the repeats is bi-allelic with 10 triplets (80% of chromosomes) and 7 triplets (20% of chromosomes). In one of the genes two CAG repeats coding for 10 and 17 glutamines are localized in the same reading frame.
authors.affiliation: Universität Lübeck, Institut für Humangenetik, Lübeck, Germany.
authors.forename: C
authors.initials: C
authors.lastname: Zühlke
authors.forename: R
authors.initials: R
authors.lastname: Kiehl
authors.forename: A
authors.initials: A
authors.lastname: Johannsmeyer
authors.forename: K H
authors.initials: KH
authors.lastname: Grzeschik
authors.forename: E
authors.initials: E
authors.lastname: Schwinger
mesh_terms: D000818:Animals; D015139:Blotting, Southern; D001921:Brain / Q000502:physiology*; D016022:Case-Control Studies; D002415:Cats; D002417:Cattle; D002877:Chromosomes, Human; D003001:Cloning, Molecular; D004285:Dogs; D018628:Gene Dosage; D020869:Gene Expression Profiling; D005786:Gene Expression Regulation; D006801:Humans; D008969:Molecular Sequence Data; D019636:Neurodegenerative Diseases / Q000235:genetics*; D016133:Polymerase Chain Reaction; D015183:Restriction Mapping; D012689:Sequence Homology, Nucleic Acid; D013045:Species Specificity; D018911:Trinucleotide Repeats / Q000235:genetics*