Human Molecular Genetics, Vol 5, 607-616, Copyright © 1996 by Oxford University Press
RL Margolis, OC Stine, MG McInnis, NG Ranen, DC Rubinsztein, J Leggo, LV Brando, AS Kidwai, SJ Loev, TS Breschel, C Callahan, SG Simpson, JR DePaulo, FJ McMahon, S Jain, ES Paykel, C Walsh, LE DeLisi, TJ Crow, EF Torrey, RG Ashworth, JP Macke, J Nathans and CA Ross
The two most consistent features of the diseases caused by trinucleotide
repeat expansion-neuropsychiatric symptoms and the phenomenon of genetic
anticipation-may be present in forms of dementia, hereditary ataxia,
Parkinsonism, bipolar affective disorder, schizophrenia and autism. To
identify candidate genes for these disorders, we have screened human brain
cDNA libraries for the presence of gene fragments containing polymorphic
trinucleotide repeats. Here we report the cDNA cloning of CAGR1, originally
detected in a retinal cDNA library. The 2743 bp cDNA contains a 1077 bp
open reading frame encoding 359 amino acids. This amino acid sequence is
homologous (56% amino acid identify and 81% amino acid conservation) to the
Caenorhabditis elegans cell fate-determining protein mab-21. CAGR1 is
expressed in several human tissues, most prominently in the cerebellum, as
a message of approximately 3.0 kb. The gene was mapped to 13q13, just
telomeric to D13S220. A 5'-untranslated CAG trinucleotide repeat is highly
polymorphic, with repeat length ranging from six to 31 triplets and a
heterozygosity of 87-88% in 684 chromosomes from several human populations.
One allele from an individual with an atypical movement disorder and
bipolar affective disorder type II contains 46 triplets, 15 triplets longer
than any other allele detected. Though insufficient data are available to
link the long repeat to this clinical phenotype, an expansion mutation of
the CAGR1 repeat can be considered a candidate for the etiology of
disorders with anticipation or developmental abnormalities, and
particularly any such disorders linked to chromosome 13.
ARTICLES
cDNA cloning of a human homologue of the Caenorhabditis elegans cell fate-determining gene mab-21: expression, chromosomal localization and analysis of a highly polymorphic (CAG)n trinucleotide repeat
Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD 21205-2196, USA.
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