{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,6]],"date-time":"2026-02-06T21:36:34Z","timestamp":1770413794387,"version":"3.49.0"},"reference-count":32,"publisher":"American Veterinary Medical Association (AVMA)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["ajvr"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n<jats:p><jats:bold>OBJECTIVE<\/jats:bold> To evaluate the coding regions of <jats:italic>ADAMTS17<\/jats:italic> for potential mutations in Chinese Shar-Pei with a diagnosis of primary open-angle glaucoma (POAG), primary lens luxation (PLL), or both.<\/jats:p>\n<jats:p><jats:bold>ANIMALS<\/jats:bold> 63 Shar-Pei and 96 dogs of other breeds.<\/jats:p>\n<jats:p><jats:bold>PROCEDURES<\/jats:bold> <jats:italic>ADAMTS17<\/jats:italic> exon resequencing was performed on buccal mucosal DNA from 10 Shar-Pei with a diagnosis of POAG, PLL, or both (affected dogs). A candidate causal variant sequence was identified, and additional dogs (53 Shar-Pei [11 affected and 42 unaffected] and 95 dogs of other breeds) were genotyped for the variant sequence by amplified fragment length polymorphism analysis. Total RNA was extracted from ocular tissues of 1 affected Shar-Pei and 1 ophthalmologically normal Golden Retriever; <jats:italic>ADAMTS17<\/jats:italic> cDNA was reverse transcribed and sequenced, and <jats:italic>ADAMTS17<\/jats:italic> expression was evaluated by quantitative reverse-transcription PCR assay.<\/jats:p>\n<jats:p><jats:bold>RESULTS<\/jats:bold> All affected Shar-Pei were homozygous for a 6-bp deletion in exon 22 of <jats:italic>ADAMTS17<\/jats:italic> predicted to affect the resultant protein. All unaffected Shar-Pei were heterozygous or homozygous for the wild-type allele. The variant sequence was significantly associated with affected status (diagnosis of POAG, PLL, or both). All dogs of other breeds were homozygous for the wild-type allele. The cDNA sequencing confirmed presence of the expected variant mRNA sequence in ocular tissue from the affected dog only. Gene expression analysis revealed a 4.24-fold decrease in the expression of <jats:italic>ADAMTS17<\/jats:italic> in ocular tissue from the affected dog.<\/jats:p>\n<jats:p><jats:bold>CONCLUSIONS AND CLINICAL RELEVANCE<\/jats:bold> Results supported that the phenotype (diagnosis of POAG, PLL, or both) is an autosomal recessive trait in Shar-Pei significantly associated with the identified mutation in <jats:italic>ADAMTS17<\/jats:italic>.<\/jats:p>","DOI":"10.2460\/ajvr.79.1.98","type":"journal-article","created":{"date-parts":[[2017,12,30]],"date-time":"2017-12-30T00:44:38Z","timestamp":1514594678000},"page":"98-106","source":"Crossref","is-referenced-by-count":28,"title":["Evaluation of ADAMTS17 in Chinese Shar-Pei with primary open-angle glaucoma, primary lens luxation, or both"],"prefix":"10.2460","volume":"79","author":[{"given":"James A. 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