ArticlePloS one2015
A Novel Genome-Wide Association Study Approach Using Genotyping by Exome Sequencing Leads to the Identification of a Primary Open Angle Glaucoma Associated Inversion Disrupting ADAMTS17.
Article in PloS one, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
What it found
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Who cites it
21 citing papers in PubMed, 33 citations in OpenAlex.
- Genetic Link Across Species: SIX6, a Major Human Glaucoma Gene, Confers Susceptibility to Glaucoma in Shiba-Inu Dogs.Investigative ophthalmology & visual science · 2026Article
- Pro-Inflammatory Cytokines in Aqueous Humor From ADAMTS10-Mutant Beagles at an Early Stage of Open-Angle Glaucoma.Veterinary ophthalmology · 2026Article
- Relative ability of aqueous humor from dogs with and without primary angle-closure glaucoma and ADAMTS10 open-angle glaucoma to catalyze or inhibit collagenolysis.Veterinary ophthalmology · 2024Article
- Ophthalmic Disease and Screening in Breeding Dogs.The Veterinary clinics of North America. Small animal practice · 2023Review
- Optic neuropathy associated with TGFβ dysregulation in mice with a glaucoma-causative mutation of ADAMTS10.Matrix biology : journal of the International Society for Matrix Biology · 2022Article
- Adamts10 controls transforming growth factorFrontiers in molecular biosciences · 2022Article
- Article
- Altered Ocular Fibrillin Microfibril Composition in Mice With a Glaucoma-Causing Mutation of Adamts10.Investigative ophthalmology & visual science · 2021Article
- Zinn's zonule.Progress in retinal and eye research · 2021Review
- Looking into the future: Gene and cell therapies for glaucoma.Veterinary ophthalmology · 2021Review
- Increased Susceptibility to Glaucomatous Damage in Microfibril Deficient Mice.Investigative ophthalmology & visual science · 2020Article
- A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family.Journal of human genetics · 2019Article
- Whole Genome Sequencing of Giant Schnauzer Dogs with Progressive Retinal Atrophy EstablishesGenes · 2019Article
- Whole genome sequencing of canids reveals genomic regions under selection and variants influencing morphology.Nature communications · 2019Article
- Primary closed angle glaucoma in the Basset Hound: Genetic investigations using genome-wide association and RNA sequencing strategies.Molecular vision · 2019Article
- Glaucoma-causingCanine genetics and epidemiology · 2019Article
- ADAMTS proteins in human disorders.Matrix biology : journal of the International Society for Matrix Biology · 2018Review
- An exome sequencing based approach for genome-wide association studies in the dog.Scientific reports · 2017Article
- Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers.Skeletal muscle · 2017Article
- Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease.Scientific reports · 2017Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
Abstract
Closed breeding populations in the dog in conjunction with advances in gene mapping and sequencing techniques facilitate mapping of autosomal recessive diseases and identification of novel disease-causing variants, often using unorthodox experimental designs. In our investigation we demonstrate successful mapping of the locus for primary open angle glaucoma in the Petit Basset Griffon Vendéen dog breed with 12 cases and 12 controls, using a novel genotyping by exome sequencing approach. The resulting genome-wide association signal was followed up by genome sequencing of an individual case, leading to the identification of an inversion with a breakpoint disrupting the ADAMTS17 gene. Genotyping of additional controls and expression analysis provide strong evidence that the inversion is disease causing. Evidence of cryptic splicing resulting in novel exon transcription as a consequence of the inversion in ADAMTS17 is identified through RNAseq experiments. This investigation demonstrates how a novel genotyping by exome sequencing approach can be used to map an autosomal recessive disorder in the dog, with the use of genome sequencing to facilitate identification of a disease-associated variant.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.