Literature DB >> 16723480

Development and characterization of a normalized canine retinal cDNA library for genomic and expression studies.

Barbara Zangerl1, Qi Sun, Jarek Pillardy, Jennifer L Johnson, Peter A Schweitzer, Alvaro G Hernandez, Lei Liu, Gregory M Acland, Gustavo D Aguirre.   

Abstract

PURPOSE: Identification of causative mutations for retinal blinding disorders is often limited by restricted understanding of gene expression and underlying molecular mechanisms that trigger degenerative processes. This study was conducted to develop a catalog of canine retina-expressed genes that would provide a unique tool to investigate normal and altered function in the adult retina. Because of the conserved syntenies between the dog and human, this approach would identify new potential disease candidate genes for both species.
METHODS: A canine normalized retinal cDNA library was produced and analyzed by using a modified PhredPhrap algorithm. Computerized annotation provided gene homology and chromosomal location for individual clones and contigs in a Web-accessible database.
RESULTS: From 6316 cDNA clones, 3980 retinal expressed sequence tags (ESTs) were derived. Homology to the canine genome draft sequence was found for more than 99% of all ESTs, but only for 32% when compared with annotated canine cDNAs. Functional analysis suggests an enrichment of this library for genes involved with eye function and development, chaperone, or ribosomal functions when compared with mouse and human National Center for Biotechnology Information (NCBI) RefSeq entries.
CONCLUSIONS: A combination of annotation approaches with ongoing mapping and expression studies provide functional data covering at least 27% to 30% of the currently proposed canine catalog of genes expressed in the retina. This is an essential first step toward establishing an integrated network for gene identification and expression patterns suitable for functional genetics, comparative genomics and evolutionary analysis of genes and gene families with respect to the developmental and degenerative processes of the retina.

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Year:  2006        PMID: 16723480     DOI: 10.1167/iovs.05-1463

Source DB:  PubMed          Journal:  Invest Ophthalmol Vis Sci        ISSN: 0146-0404            Impact factor:   4.799


  7 in total

1.  Transcriptional profile analysis of RPGRORF15 frameshift mutation identifies novel genes associated with retinal degeneration.

Authors:  Sem Genini; Barbara Zangerl; Julianna Slavik; Gregory M Acland; William A Beltran; Gustavo D Aguirre
Journal:  Invest Ophthalmol Vis Sci       Date:  2010-06-23       Impact factor: 4.799

2.  Structural organization and expression pattern of the canine RPGRIP1 isoforms in retinal tissue.

Authors:  Tatyana Kuznetsova; Barbara Zangerl; Orly Goldstein; Gregory M Acland; Gustavo D Aguirre
Journal:  Invest Ophthalmol Vis Sci       Date:  2011-05-06       Impact factor: 4.799

3.  Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans.

Authors:  Barbara Zangerl; Orly Goldstein; Alisdair R Philp; Sarah J P Lindauer; Susan E Pearce-Kelling; Robert F Mullins; Alexander S Graphodatsky; Daniel Ripoll; Jeanette S Felix; Edwin M Stone; Gregory M Acland; Gustavo D Aguirre
Journal:  Genomics       Date:  2006-08-30       Impact factor: 5.736

4.  Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod-cone degeneration interval and identifies ancestral disease-transmitting chromosome.

Authors:  Orly Goldstein; Barbara Zangerl; Sue Pearce-Kelling; Duska J Sidjanin; James W Kijas; Jeanette Felix; Gregory M Acland; Gustavo D Aguirre
Journal:  Genomics       Date:  2006-07-20       Impact factor: 5.736

5.  Comparative genomic mapping of uncharacterized canine retinal ESTs to identify novel candidate genes for hereditary retinal disorders.

Authors:  B Zangerl; J L Johnson; J Pillardy; Q Sun; C André; F Galibert; G M Acland; G D Aguirre
Journal:  Mol Vis       Date:  2009-05-09       Impact factor: 2.367

6.  Hypoxia-regulated components of the U4/U6.U5 tri-small nuclear riboprotein complex: possible role in autosomal dominant retinitis pigmentosa.

Authors:  Rainald Schmidt-Kastner; Hideo Yamamoto; Duco Hamasaki; Hiroko Yamamoto; Jean-Marie Parel; Christoph Schmitz; C Kathy Dorey; Janet C Blanks; Markus N Preising
Journal:  Mol Vis       Date:  2008-01-25       Impact factor: 2.367

Review 7.  Understanding hereditary diseases using the dog and human as companion model systems.

Authors:  Kate L Tsai; Leigh Anne Clark; Keith E Murphy
Journal:  Mamm Genome       Date:  2007-07-26       Impact factor: 2.957

  7 in total

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