Isolation and characterization of novel CAG repeat containing genes expressed in human brain

DNA Seq. 1999;10(1):1-6. doi: 10.3109/10425179909033929.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Blotting, Southern
  • Brain / physiology*
  • Case-Control Studies
  • Cats
  • Cattle
  • Chromosomes, Human
  • Cloning, Molecular
  • Dogs
  • Gene Dosage
  • Gene Expression Profiling
  • Gene Expression Regulation
  • Humans
  • Molecular Sequence Data
  • Neurodegenerative Diseases / genetics*
  • Polymerase Chain Reaction
  • Restriction Mapping
  • Sequence Homology, Nucleic Acid
  • Species Specificity
  • Trinucleotide Repeats / genetics*

Associated data

  • GENBANK/Y13870
  • GENBANK/Y13871
  • GENBANK/Z97016
  • GENBANK/Z97017