{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"bioRxiv"}],"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T23:50:58Z","timestamp":1787010658404,"version":"build-2736575974"},"posted":{"date-parts":[[2024,3,16]]},"group-title":"Genetics","reference-count":47,"publisher":"openRxiv","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2024,3,19]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                <jats:p>\n                  Primary angle closure glaucoma (PACG) affects more than 20 million people worldwide, with an increased prevalence in south-east Asia. In a prior haplotype-based GWAS, we identified a novel\n                  <jats:italic>CNTNAP5<\/jats:italic>\n                  genic region, significantly associated with PACG. In the current study, we have extended our perception of\n                  <jats:italic>CNTNAP5<\/jats:italic>\n                  involvement in glaucomatous neurodegeneration in a zebrafish model, through investigating phenotypic consequences pertinent to retinal degeneration upon knockdown of cntnap5 by translation-blocking morpholinos. While cntnap5 knockdown was successfully validated using an antibody, immunofluorescence followed by western blot analyses in cntnap5-morphant (MO) zebrafish revealed increased expression of acetylated tubulin indicative of perturbed cytoarchitecture of retinal layers. Moreover, significant loss of Nissl substance is observed in the neuro-retinal layers of cntnap5-MO zebrafish eye, indicating neurodegeneration. Additionally, in spontaneous movement behavioural analysis, cntnap5-MO zebrafish have a significantly lower average distance traversed in light phase compared to mismatch-controls, whereas no significant difference was observed in the dark phase, corroborating with vision loss in the cntnap5-MO zebrafish. This study provides the first direct functional evidence of a putative role of\n                  <jats:italic>CNTNAP5<\/jats:italic>\n                  in visual neurodegeneration.\n                <\/jats:p>","DOI":"10.1101\/2024.03.14.583830","type":"posted-content","created":{"date-parts":[[2024,3,16]],"date-time":"2024-03-16T20:40:14Z","timestamp":1710621614000},"source":"Crossref","is-referenced-by-count":5,"title":["Post-GWAS functional analyses of\n                  <i>CNTNAP5<\/i>\n                  suggests its role in glaucomatous neurodegeneration"],"prefix":"10.64898","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2277-9759","authenticated-orcid":false,"given":"Sudipta","family":"Chakraborty","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jyotishman","family":"Sarma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shantanu 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