Literature DB >> 33547946

Web resource on available DNA variant tests for hereditary diseases and genetic predispositions in dogs and cats: An Update.

Jennifer L Rokhsar1, Julia Canino1, Karthik Raj1, Scott Yuhnke1, Jeffrey Slutsky1, Urs Giger2.   

Abstract

Vast progress has been made in the clinical diagnosis and molecular basis of hereditary diseases and genetic predisposition in companion animals. The purpose of this report is to provide an update on the availability of DNA testing for hereditary diseases and genetic predispositions in dogs and cats utilizing the WSAVA-PennGen DNA Testing Database web resource (URL: http://research.vet.upenn.edu/WSAVA-LabSearch ). Information on hereditary diseases, DNA tests, genetic testing laboratories and afflicted breeds added to the web-based WSAVA-PennGen DNA Testing Database was gathered. Following verification through original research and clinical studies, searching various databases on hereditary diseases in dogs and cats, and contacting laboratories offering DNA tests, the data were compared to the resource reported on in 2013. The number of molecularly defined Mendelian inherited diseases and variants in companion animals listed in the WSAVA-PennGen DNA Testing Database in 2020 drastically increased by 112% and 141%, respectively. The number of DNA variant tests offered by each laboratory has also doubled for dogs and cats. While the overall number of laboratories has only slightly increased from 43 to 47, the number of larger corporate laboratories increased, while academic laboratories have declined. In addition, there are now several laboratories that are offering breed-specific or all-breed panel tests rather than single-DNA tests for dogs and cats. This unique regularly updated searchable web-based database allows veterinary clinicians, breeders and pet owners to readily find available DNA tests, laboratories performing these DNA tests worldwide, and canine and feline breeds afflicted and also serves as a valuable resource for comparative geneticists.

Entities:  

Year:  2021        PMID: 33547946     DOI: 10.1007/s00439-021-02256-5

Source DB:  PubMed          Journal:  Hum Genet        ISSN: 0340-6717            Impact factor:   4.132


  39 in total

1.  SLC3A1 and SLC7A9 mutations in autosomal recessive or dominant canine cystinuria: a new classification system.

Authors:  A-K Brons; P S Henthorn; K Raj; C A Fitzgerald; J Liu; A C Sewell; U Giger
Journal:  J Vet Intern Med       Date:  2013-09-03       Impact factor: 3.333

2.  A missense mutation in the 20S proteasome β2 subunit of Great Danes having harlequin coat patterning.

Authors:  Leigh Anne Clark; Kate L Tsai; Alison N Starr; Keri L Nowend; Keith E Murphy
Journal:  Genomics       Date:  2011-01-20       Impact factor: 5.736

Review 3.  A review of gene therapy in canine and feline models of lysosomal storage disorders.

Authors:  Allison M Bradbury; Brittney L Gurda; Margret L Casal; Katherine P Ponder; Charles H Vite; Mark E Haskins
Journal:  Hum Gene Ther Clin Dev       Date:  2015-02-11       Impact factor: 5.032

4.  Neurodegenerative lysosomal storage disease in European Burmese cats with hexosaminidase beta-subunit deficiency.

Authors:  Allison M Bradbury; Nancy E Morrison; Misako Hwang; Nancy R Cox; Henry J Baker; Douglas R Martin
Journal:  Mol Genet Metab       Date:  2009-02-23       Impact factor: 4.797

5.  Genome-wide association analysis reveals a SOD1 mutation in canine degenerative myelopathy that resembles amyotrophic lateral sclerosis.

Authors:  Tomoyuki Awano; Gary S Johnson; Claire M Wade; Martin L Katz; Gayle C Johnson; Jeremy F Taylor; Michele Perloski; Tara Biagi; Izabella Baranowska; Sam Long; Philip A March; Natasha J Olby; G Diane Shelton; Shahnawaz Khan; Dennis P O'Brien; Kerstin Lindblad-Toh; Joan R Coates
Journal:  Proc Natl Acad Sci U S A       Date:  2009-02-02       Impact factor: 11.205

6.  Feline acute intermittent porphyria: a phenocopy masquerading as an erythropoietic porphyria due to dominant and recessive hydroxymethylbilane synthase mutations.

Authors:  Sonia Clavero; David F Bishop; Mark E Haskins; Urs Giger; Raili Kauppinen; Robert J Desnick
Journal:  Hum Mol Genet       Date:  2009-11-24       Impact factor: 6.150

7.  Diagnosis of feline acute intermittent porphyria presenting with erythrodontia requires molecular analyses.

Authors:  Sonia Clavero; Yuri Ahuja; David F Bishop; Brittany Kwait; Mark E Haskins; Urs Giger; Robert J Desnick
Journal:  Vet J       Date:  2013-10-10       Impact factor: 2.688

8.  A Line 1 insertion in the Factor IX gene segregates with mild hemophilia B in dogs.

Authors:  Marjory B Brooks; Weikuan Gu; Jennifer L Barnas; Jharna Ray; Kunal Ray
Journal:  Mamm Genome       Date:  2003-11       Impact factor: 2.957

9.  A Large Deletion in the NSDHL Gene in Labrador Retrievers with a Congenital Cornification Disorder.

Authors:  Anina Bauer; Michela De Lucia; Vidhya Jagannathan; Giorgia Mezzalira; Margret L Casal; Monika M Welle; Tosso Leeb
Journal:  G3 (Bethesda)       Date:  2017-09-07       Impact factor: 3.154

10.  Christmas disease in a Hovawart family resembling human hemophilia B Leyden is caused by a single nucleotide deletion in a highly conserved transcription factor binding site of the F9 gene promoter.

Authors:  Bertram Brenig; Lilith Steingräber; Shuwen Shan; Fangzheng Xu; Marc Hirschfeld; Reiner Andag; Mirjam Spengeler; Elisabeth Dietschi; Reinhard Mischke; Tosso Leeb
Journal:  Haematologica       Date:  2019-03-07       Impact factor: 9.941

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  3 in total

1.  Molecular epidemiological study of germline APC variant associated with hereditary gastrointestinal polyposis in dogs: current frequency in Jack Russell Terriers in Japan and breed distribution.

Authors:  Kyoko Yoshizaki; Akihiro Hirata; Hiroyuki Matsushita; Masahiro Sakaguchi; Wakana Yoneji; Keishi Owaki; Hiroki Sakai
Journal:  BMC Vet Res       Date:  2022-06-18       Impact factor: 2.792

Review 2.  Dead or Alive? A Review of Perinatal Factors That Determine Canine Neonatal Viability.

Authors:  Oliwia Uchańska; Małgorzata Ochota; Maria Eberhardt; Wojciech Niżański
Journal:  Animals (Basel)       Date:  2022-05-30       Impact factor: 3.231

3.  EHBP1L1 Frameshift Deletion in English Springer Spaniel Dogs with Dyserythropoietic Anemia and Myopathy Syndrome (DAMS) or Neonatal Losses.

Authors:  Sarah Østergård Jensen; Matthias Christen; Veronica Rondahl; Christopher T Holland; Vidhya Jagannathan; Tosso Leeb; Urs Giger
Journal:  Genes (Basel)       Date:  2022-08-26       Impact factor: 4.141

  3 in total

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