Everybody has been asking!

Over the past few months the question in the minds of many Glen of Imaal Terrier breeders has been a genetic one. The breed has been so fortunate having two places (Cornell & Bochum) looking in the PRA problem and unbelieveably both declared success but was it the same gene causing the mutation that both had found? The only way to know was when both organisations published; below is the epublication from Bochum.

Generalized progressive retinal atrophy in the Irish Glen of Imaal Terrier is associated with a deletion in the ADAM9 gene.

Kropatsch R, Petrasch-Parwez E, Seelow D, Schlichting A, Gerding WM, Akkad DA, Epplen JT, Dekomien G.

Department of Human Genetics, Ruhr University, Universitätsstrasse 150, 44801 Bochum, Germany.

Abstract

Generalized progressive retinal atrophy (gPRA) belongs to a group of inherited retinal diseases which are associated with gradual vision loss in various dog breeds, including the Irish Glen of Imaal Terrier (GIT). By genome-wide homozygosity mapping using SNP arrays and fine mapping of candidate regions, we assigned the gPRA candidate locus in this breed to canine chromosome 16. The respective region is syntenic with human chromosome 8 comprising the ADAM metallopeptidase domain 9 (ADAM9) gene. ADAM9 represents a strong candidate gene for canine retinal disease because mutations have previously been shown to cause autosomal recessively inherited human cone-rod dystrophy, a retinal disorder affecting photoreceptor function. Sequence analysis of ADAM9 in affected and carrier GITs revealed a deletion of exons 15 and 16 which alters the reading frame leading to a premature stop codon. This mutation was absent from 34 other dog breeds. A variable and, at times, very late onset of gPRA was confirmed in GITs by a relatively mild retinal degeneration at an advanced age. Hence, the identification of the genetic defect underlying gPRA in the GIT represents a suitable model for cone-rod dystrophy of humans, with superior potential to elucidate functional consequences of the recently described null mutations in the human ADAM9 gene. Copyright © 2010. Published by Elsevier Ltd.

13 thoughts on “Everybody has been asking!

  1. Unfortunately, I’m not sure that this actually answers any questions, as my understanding is that Optigen are somewhat behind in publishing the results of their research.

  2. Pingback: Everybody has been asking! « Enthusiasts & Fanciers of Glens life university

  3. It answers what have Bochum found so when Optigen do publish their findings they can be confirmed.

  4. Well, i think why its been asked, is that it is commen way to publish the results of their research in few well know pro publication. After that research is known and then widely proved. So far i have only seen Optigens and our professors here say the same. Its a commen way with all reearches.
    Its allso been said that this is dog politic, i say Bull…t. It commen sence!
    Will anyone take any drucks, if its not proven? I don´t think so!
    We will have clinic soon, i will put a LOT of money for getting a lot of dogs done. Will i be ready to do it and send then to Germany, witch is cheaper, closer ex. And after sometime it will be know as not proven reseach. Witch would meen to me, that all tests are done for nothing and results are not taken seriously. No i don´t.
    So, would someone be nice and let me know where that written research been published, to ease my pain :o).

    • You mention that Optigen has published their research. If you have a link to anything published by Cornell/Optigen (other than the Optigen website which is only about how CRD3 is inherited and why a DNA test should be performed) please post it as nobody else seems to have seen anything.

  5. http://www.ncbi.nlm.nih.gov/pubmed

    Click on ‘Advanced search’

    Under ‘Search Builder’ choose ‘Aurthor’ from the drop down menu and type in
    Epplen
    Click on ‘Add to Search Box’
    Then choose ‘Text Word’ from the drop down menu and type in
    Imaal
    (Check that the word AND is in the small drop menu)
    Click on ‘Add to Search Box’
    Then click on the blue ‘Search’ box

  6. Thanks Ali, but i miss some part as i only fiend abstract and not hole research.
    I am looking for about same as Jo`s sending link but from Bochum. They must have it, right?
    Elsevier seems to be publisher, but i can´t fiend anything from they homepage, even i tryed to use same search words as Ali gave.

  7. Hello all EFC people,

    The most important news is of course that both research groups found the same causative gene (ADAM9-gene) for de CRD3 in Glens.
    Acland link: https://www.molvis.org/molvis/v16/a167/
    Bochum link: http://198.81.200.2/science?_ob=ArticleURL&_udi=B6WNC-50PCM9T-2&_user=10&_coverDate=08%2F04%2F2010&_alid=1428550608&_rdoc=1&_fmt=high&_orig=search&_cdi=6959&_docanchor=&view=c&_ct=2&_acct=C000050221&_version=1&_urlVersion=0&_userid=10&md5=403c4f5b9e7dcd11689760d4e654e780#FCANote

    Note that the Acland article is a “published” article and ans the Bochum article is a “e-publication” what means that it is an article in press, and not totally revised

    Gie

    • The Bochum paper is revised and is published. Email from Bochum states

      Received 15 July 2010;
      revised 26 July 2010;
      accepted 26 July 2010.

  8. Thank you Gie,
    Now we are talking. I know what will i be doing rest of my day! :o))
    Gie you so right that it is THE moust important news that we have now, after all these years. But we allso need to be sure.
    Sorry to say, but in this reseach and medical life, things aren´t so pure allways, its very rare actually.
    And that there was nothing to be found from Germany, it made my bells ringing anyway! “been there done that”

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