title: Structural and developmental analysis of the mouse peripherin/rds gene.
abstract: Mutations in the peripherin/rds gene have been reported to be associated with different forms of human autosomal dominant retinitis pigmentosa (ADRP) and macular degeneration (MD). To better understand the disruptive role of these mutations, knowledge of the structure-function relationship of the peripherin/rds gene is needed. To facilitate that, genomic clones encoding the mouse gene were isolated using bovine cDNA sequences as probes. Sequence analysis of clone lambda 6-1-1, that contained the entire coding sequence for the mouse peripherin/rds, yielded the exon-intron organization of the gene. The gene is composed of three exons (581, 247, and 213 bp) and two introns with the first and second introns 8.6 kb and 3.7 kb in size, respectively. Two major (1.6 and 2.7 kb) and three minor (4.0, 5.5, 6.5 kb) transcripts were detected on RNA blots. The major transcripts first appeared in the brain at embryonic day 13 and in the retina at postnatal day 1. Transcripts were missing in brain and eye of mice at embryonic day 15. Several transcription start sites were mapped within 26 nucleotides approximately 200 bp upstream from the translation initiation site. However, transcripts varied in the lengths of their 3' untranslated portion as a result of the utilization of different polyadenylation signals.
authors.affiliation: Department of Genetics, University of Illinois at Chicago, USA.
authors.forename: T
authors.initials: T
authors.lastname: Cheng
authors.forename: M R
authors.initials: MR
authors.lastname: al Ubaidi
authors.forename: M I
authors.initials: MI
authors.lastname: Naash
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D003001:Cloning, Molecular; D005314:Embryonic and Fetal Development / Q000235:genetics; D005091:Exons; D005136:Eye Proteins / Q000737:chemistry* / Q000235:genetics* / Q000302:isolation & purification; D018507:Gene Expression Regulation, Developmental; D005796:Genes; D007381:Intermediate Filament Proteins / Q000737:chemistry* / Q000235:genetics* / Q000302:isolation & purification; D007438:Introns; D008562:Membrane Glycoproteins / Q000737:chemistry / Q000235:genetics / Q000302:isolation & purification; D051379:Mice; D008810:Mice, Inbred C57BL; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000737:chemistry* / Q000235:genetics* / Q000302:isolation & purification; D064531:Peripherins; D012160:Retina / Q000254:growth & development / Q000378:metabolism; D012174:Retinitis Pigmentosa / Q000235:genetics; D017422:Sequence Analysis, DNA; D014158:Transcription, Genetic
chemical_list: D005136:Eye Proteins; D007381:Intermediate Filament Proteins; D008562:Membrane Glycoproteins; D009419:Nerve Tissue Proteins; C578994:PRPH protein, human; C578997:PRPH2 protein, human; D064531:Peripherins; C578996:Prph2 protein, mouse