Linked Life Data

9703434

Source:http://linkedlifedata.com/resource/pubmed/id/9703434

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
6
pubmed:dateCreated
1998-8-18
pubmed:databankReference
pubmed:abstractText
Rim protein (RmP) is an integral membrane glycoprotein localized to the rims of photoreceptor outer-segment discs. It belongs to the ABC transporter superfamily, but its function in the retina has not been determined. The gene for human RmP (ABCR) is affected in several recessively inherited human retinal degenerations, including Stargardt's macular dystrophy, retinitis pigmentosa, and cone-rod dystrophy. The complete structure of ABCR has not been determined. Here, we report the cloning of the human ABCR gene and present its complete intron-exon structure. The gene contains 50 exons that range in size from 33 to 406 bp. Almost all of the splice junctions follow the AG/GT rule. We have identified the site of transcription initiation by 5' RACE. The first several hundred bases upstream of the transcription unit are relatively conserved between mouse and human and contain several predicted cis-regulatory elements including a TATA-like box at -27 bp, and two Ret-4-like elements that reportedly confer photoreceptor-specific gene expression. We also present a complete set of tested oligonucleotide primers for the amplification and analysis of exons 1-50 by the polymerase chain reaction. These data should help with the identification of new disease-causing mutations in ABCR.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jun
pubmed:issn
0340-6717
pubmed:author
pubmed:issnType
Print
pubmed:volume
102
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
699-705
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1998
pubmed:articleTitle
The human photoreceptor rim protein gene (ABCR): genomic structure and primer set information for mutation analysis.
pubmed:affiliation
Department of Psychiatry, University of Texas Southwestern Medical Center, Dallas 75235-9111, USA.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't