{
  "abstract": "Genetic variants in Protein O-mannose N-acetylglucosaminyltransferase 1 (POMGNT1) result in a broad spectrum of disorders, ranging from severe congenital muscular dystrophy with brain and ocular malformations to non-syndromic retinitis pigmentosa. Despite POMGNT1's established role in the glycosylation of the transmembrane glycoprotein &alpha-dystroglycan (&alpha-DG), the mechanistic basis for this clinical variability remains poorly understood. Previous work in a zebrafish pomngt1 knock-out (KO) line identified retinal degeneration at 6 months post-fertilization (mpf). However, potential involvement of other tissues was not characterized, and compensation from maternal transcripts which can occur in the zebrafish oocyte was not tested. Here, we analyzed maternal-zygotic pomgnt1 KOs (MZKOs) to determine whether maternal compensation influences the onset and severity of pomgnt1-associated phenotypes. We assessed survival, gross morphology, locomotor activity, behavioral patterns, and retinal organization across multiple timepoints. MZKOs survived to adulthood and exhibited no morphological or locomotor deficits up to 5 mpf. Retinal abnormalities were found as early as 2 mpf in MZKOs, demonstrating that maternally provided factors of pomgnt1 delay the onset of retinal pathology. Additionally, MZKOs displayed a novel wall-hugging behavioral pattern that may be consistent with visual impairment or anxiety. These findings demonstrate a strong tissue-specific phenotype following loss of pomgnt1 in zebrafish showing evolutionary divergence in the necessity for Pomgnt1 function in the muscle. However, this strain provides a useful system for investigating the mechanisms underlying the retinal vulnerability observed in POMGNT1-related retinitis pigmentosa.",
  "abstract_shown": true,
  "affiliations": [
    "Rutgers Robert Wood Johnson Medical School"
  ],
  "article_type": "New results",
  "arxiv": null,
  "author_total": 7,
  "authors": [
    {
      "name": "C. D. Oliveira"
    },
    {
      "name": "K. P. Flannery"
    },
    {
      "name": "L. M. Simhon"
    },
    {
      "name": "N. Shi"
    },
    {
      "name": "D. Liu"
    },
    {
      "name": "D. Burbano"
    },
    {
      "affs": [
        0
      ],
      "name": "M. C. Manzini"
    }
  ],
  "bibtex": "https://research.draconitic.com/paper/b3m9bawr2qt4q.bib",
  "cited_by": 0,
  "doi": "10.64898/2026.11.02.763738",
  "fulltext_url": "https://www.biorxiv.org/content/10.64898/2026.11.02.763738v1.full",
  "id": "b3m9bawr2qt4q",
  "issns": [],
  "landing_url": "https://www.biorxiv.org/content/10.64898/2026.11.02.763738v1",
  "language": null,
  "licence": "CC-BY-NC-ND",
  "licence_label": "CC BY-NC-ND",
  "licence_source": "article",
  "licence_url": "https://creativecommons.org/licenses/by-nc-nd/4.0/",
  "metadata_licence": null,
  "native_subjects": [
    [
      "biorxiv",
      "genetics"
    ]
  ],
  "openalex": null,
  "pdf_url": "https://www.biorxiv.org/content/10.64898/2026.11.02.763738v1.full.pdf",
  "pmcid": null,
  "pmid": null,
  "published": "2026-11-02",
  "publisher": null,
  "ris": "https://research.draconitic.com/paper/b3m9bawr2qt4q.ris",
  "sources": [
    {
      "first_seen": "2026-11-04T12:21:04Z",
      "native_id": "10.64898/2026.11.02.763738",
      "source": "biorxiv",
      "url": "https://www.biorxiv.org/content/10.64898/2026.11.02.763738v1"
    }
  ],
  "subjects": [
    {
      "field": "biology",
      "origin": "biorxiv:genetics",
      "subfield": "genetics-genomics"
    }
  ],
  "title": "Removal of maternal compensation reveals retinal-specific roles for Pomgnt1 in zebrafish",
  "title_text": "Removal of maternal compensation reveals retinal-specific roles for Pomgnt1 in zebrafish",
  "type": "preprint",
  "updated_at": "2026-11-05T00:21:17Z",
  "url": "https://research.draconitic.com/paper/b3m9bawr2qt4q",
  "venue": "bioRxiv",
  "versions": []
}