{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T01:15:51Z","timestamp":1792804551135,"version":"4.5.0"},"reference-count":69,"publisher":"The Company of Biologists","issue":"4","license":[{"start":{"date-parts":[[2021,3,30]],"date-time":"2021-03-30T00:00:00Z","timestamp":1617062400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","award":["R01EY019887"],"award-info":[{"award-number":["R01EY019887"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100001818","name":"Research to Prevent Blindness","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100001818","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100017433","name":"That Man May See","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100017433","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100001209","name":"Knights Templar Eye Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100001209","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100006312","name":"BrightFocus Foundation","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100006312","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"crossref","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/100000053","name":"National Eye Institute","doi-asserted-by":"crossref","award":["P30 EY002162"],"award-info":[{"award-number":["P30 EY002162"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,4,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>Collagen type IV alpha 1 and alpha 2 (COL4A1 and COL4A2) are major components of almost all basement membranes. COL4A1 and COL4A2 mutations cause a multisystem disorder that can affect any organ but typically involves the cerebral vasculature, eyes, kidneys and skeletal muscles. In recent years, patient advocacy and family support groups have united under the name of Gould syndrome. The manifestations of Gould syndrome are highly variable, and animal studies suggest that allelic heterogeneity and genetic context contribute to the clinical variability. We previously characterized a mouse model of Gould syndrome caused by a Col4a1 mutation in which the severities of ocular anterior segment dysgenesis (ASD), myopathy and intracerebral hemorrhage (ICH) were dependent on genetic background. Here, we performed a genetic modifier screen to provide insight into the mechanisms contributing to Gould syndrome pathogenesis and identified a single locus [modifier of Gould syndrome 1 (MoGS1)] on Chromosome 1 that suppressed ASD. A separate screen showed that the same locus ameliorated myopathy. Interestingly, MoGS1 had no effect on ICH, suggesting that this phenotype could be mechanistically distinct. We refined the MoGS1 locus to a 4.3\u2005Mb interval containing 18 protein-coding genes, including Fn1, which encodes the extracellular matrix component fibronectin 1. Molecular analysis showed that the MoGS1 locus increased Fn1 expression, raising the possibility that suppression is achieved through a compensatory extracellular mechanism. Furthermore, we found evidence of increased integrin-linked kinase levels and focal adhesion kinase phosphorylation in Col4a1 mutant mice that is partially restored by the MoGS1 locus, implicating the involvement of integrin signaling. Taken together, our results suggest that tissue-specific mechanistic heterogeneity contributes to the variable expressivity of Gould syndrome and that perturbations in integrin signaling may play a role in ocular and muscular manifestations.<\/jats:p>","DOI":"10.1242\/dmm.048231","type":"journal-article","created":{"date-parts":[[2021,3,10]],"date-time":"2021-03-10T11:20:10Z","timestamp":1615375210000},"source":"Crossref","is-referenced-by-count":20,"title":["Identification of fibronectin 1 as a candidate genetic modifier in a\n                    <i>Col4a1<\/i>\n                    mutant mouse model of Gould syndrome"],"prefix":"10.1242","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7026-5790","authenticated-orcid":false,"given":"Mao","family":"Mao","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, University of California San Francisco, San Francisco, CA 94143, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tanav","family":"Popli","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of California San Francisco, San Francisco, CA 94143, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marion","family":"Jeanne","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of California San Francisco, San Francisco, CA 94143, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5226-6682","authenticated-orcid":false,"given":"Kendall","family":"Hoff","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of California San Francisco, San Francisco, CA 94143, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4519-6361","authenticated-orcid":false,"given":"Saunak","family":"Sen","sequence":"additional","affiliation":[{"name":"Department of Epidemiology and Biostatistics, University of California San Francisco, San Francisco, CA 94143, USA"},{"name":"Institute of Human Genetics, University of California San Francisco, San Francisco, CA 94143, USA"},{"name":"Department of Preventive Medicine, University of Tennessee Health Science Center, 66 North Pauline St, Memphis, TN 38163, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5127-5328","authenticated-orcid":false,"given":"Douglas B.","family":"Gould","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of California San Francisco, San Francisco, CA 94143, USA"},{"name":"Institute of Human Genetics, University of California San Francisco, San Francisco, CA 94143, USA"},{"name":"Department of Anatomy, University of California San Francisco, San Francisco, CA 94143, USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"237","published-online":{"date-parts":[[2021,4,26]]},"reference":[{"key":"2021082314152975100_DMM048231C1","doi-asserted-by":"publisher","first-page":"245","DOI":"10.4161\/nucl.11739","article-title":"SMARCAL1 and replication stress: an explanation for SIOD?","volume":"1","author":"Bansbach","year":"2010","journal-title":"Nucleus"},{"key":"2021082314152975100_DMM048231C2","doi-asserted-by":"publisher","first-page":"743","DOI":"10.1016\/j.jpeds.2009.04.014","article-title":"COL4A1 mutation in preterm intraventricular hemorrhage","volume":"155","author":"Bilguvar","year":"2009","journal-title":"J. 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