Survey for CAG repeat polymorphisms in the human MAP-2 gene.
Microtubule-associated protein-2 (MAP-2) expression is altered in response to a number of physiological insults such as Alzheimer's disease, schizophrenia, stroke and AIDS-dementia. Changes include alteration in MAP-2 transcription, translation, and state of phosphorylation. Multiple MAP-2 transcripts exist within the nervous system and, as noted for a number of genes expressed in the central nervous system, MAP-2 contains a region of trinucleotide repeats located in exon 1 of the 5' untranslated region (5' UTR). Since expansion of CAG repeats are found in several neurodegenerative disorders, we analysed the CAG repeats in MAP-2 for polymorphisms in 31 controls, 35 chronic schizophrenics, and 20 with other neuropsychiatric illnesses. Genomic DNA samples from 86 individuals were used as templates in PCR amplifications with primers within exon 1. Sequencing of the PCR products, or short tandem repeat polymorphism (STRP) analysis, demonstrated consistency in the size of the CAG repeats. This study demonstrates that the seven copies of the CAG repeat located in the 5' UTR of the MAP-2 gene are highly conserved in the general population, and that there is no evidence for expansion of the CAG repeat.
Kalcheva
N
N
Department of Pathology, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Lachman
H M
HM
Shafit-Zagardo
B
B
D004247:DNA / Q000032:analysis; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics*; D008869:Microtubule-Associated Proteins; D009422:Nervous System Diseases / Q000235:genetics; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D012559:Schizophrenia / Q000235:genetics; D018911:Trinucleotide Repeats / Q000235:genetics*
C489788:MAP2 protein, human; D008565:Membrane Proteins; D008869:Microtubule-Associated Proteins; D004247:DNA