Linked Life Data

9344665

Source:http://linkedlifedata.com/resource/pubmed/id/9344665

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1998-2-12
pubmed:databankReference
pubmed:abstractText
The NRL gene encodes an evolutionarily conserved basic motif-leucine zipper transcription factor that is implicated in regulating the expression of the photoreceptor-specific gene rhodopsin. NRL is expressed in postmitotic neuronal cells and in lens during embryonic development, but exhibits a retina-specific pattern of expression in the adult. To understand regulation of NRL expression and to investigate its possible involvement in retinopathies, we have determined the complete sequence of the human NRL gene, identified a polymorphic (CA)n repeat (identical to D14S64) within the NRL-containing cosmid, and refined its location by linkage analysis. Since a locus for autosomal recessive retinitis pigmentosa (arRP) has been linked to markers at 14q11 and since mutations in rhodopsin can lead to RP, we sequenced genomic PCR products of the NRL gene and of the rhodopsin-Nrl response element from a panel of patients representing independent families with inherited retinal degeneration. The analysis did not reveal any causative mutations in this group of patients. These investigations provide the basis for delineating the DNA sequence elements that regulate NRL expression in distinct neuronal cell types and should assist in the analysis of NRL as a candidate gene for inherited diseases/syndromes affecting visual function.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0888-7543
pubmed:author
pubmed:copyrightInfo
Copyright 1997 Academic Press.
pubmed:issnType
Print
pubmed:day
15
pubmed:volume
45
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
395-401
pubmed:dateRevised
2010-11-18
pubmed:meshHeading
pubmed-meshheading:9344665-Adult, pubmed-meshheading:9344665-Amino Acid Sequence, pubmed-meshheading:9344665-Animals, pubmed-meshheading:9344665-Base Sequence, pubmed-meshheading:9344665-Basic-Leucine Zipper Transcription Factors, pubmed-meshheading:9344665-Chromosome Mapping, pubmed-meshheading:9344665-Chromosomes, Human, Pair 14, pubmed-meshheading:9344665-DNA, pubmed-meshheading:9344665-DNA Mutational Analysis, pubmed-meshheading:9344665-DNA Primers, pubmed-meshheading:9344665-DNA-Binding Proteins, pubmed-meshheading:9344665-Dinucleotide Repeats, pubmed-meshheading:9344665-Eye Proteins, pubmed-meshheading:9344665-G-Box Binding Factors, pubmed-meshheading:9344665-Genetic Linkage, pubmed-meshheading:9344665-Humans, pubmed-meshheading:9344665-Leucine Zippers, pubmed-meshheading:9344665-Mice, pubmed-meshheading:9344665-Molecular Sequence Data, pubmed-meshheading:9344665-Optic Atrophies, Hereditary, pubmed-meshheading:9344665-Polymerase Chain Reaction, pubmed-meshheading:9344665-Retinal Degeneration, pubmed-meshheading:9344665-Retinitis Pigmentosa, pubmed-meshheading:9344665-Sequence Homology, Nucleic Acid, pubmed-meshheading:9344665-Transcription Factors
pubmed:year
1997
pubmed:articleTitle
Human bZIP transcription factor gene NRL: structure, genomic sequence, and fine linkage mapping at 14q11.2 and negative mutation analysis in patients with retinal degeneration.
pubmed:affiliation
Department of Ophthalmology, University of Michigan, Ann Arbor, Michigan 48105, USA.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't