The publication detail shows the title, authors (with indicators showing other profiled authors), information on the publishing organization, abstract and a link to the article in PubMed. This abstract is what is used to create the fingerprint of the publication. If any grants are referenced by the publication, they will be listed here as well.
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.
R L Margolis; O C Stine; M G McInnis; N G Ranen; D C Rubinsztein; J Leggo; L V Brando; A S Kidwai; S J Loev; T S Breschel; et al. (Profiled Authors: Christopher Ross; Francis McMahon; Jeremy Nathans; Russell Margolis; Lorraine Brando; Sylvia Simpson; Melvin Mcinnis; Colleen Callahan; O'Colin Stine; J Depaulo)
Department of Psychiatry, Johns Hopkins University School of Medicine, Baltimore, MD 21205-2196, USA.
Human molecular genetics 1996;5(5):607-16.
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.
This section shows information related to the publication - computed using the fingerprint of the publication - including related publications, related experts and related grants with fingerprints representing significant amounts of overlap between their fingerprint and this publication. The red dots indicate whether those experts or terms appear within the publication, thereby showing potential and actual connections.
D A Swanson; J T Chang; P A Campochiaro; D J Zack; D ValleInvestigative ophthalmology & visual science 1998;39(11):2085-94.
Z Vajo; L M King; T Jonassen; D J Wilkin; N Ho; A Munnich; C F Clarke; C A FrancomanoMammalian genome : official journal of the International Mammalian Genome Society 1999;10(10):1000-4.
S J Loev; R L Margolis; W S Young; S H Li; G Schilling; R G Ashworth; C A RossNeurobiology of disease 1995;2(3):129-38.
Appears in this Publication
Author of this Publication