ArticleDevelopment (Cambridge, England)2026
SIX1 branchio-oto-renal syndrome variants have different effects on embryonic craniofacial gene expression and cartilage formation.
Kelsey Coppenrath, Nikko-Ideen Shaidani, Thomas Naert, Himani D Majumdar, Marko Horb, Soeren S Lienkamp, Steven L Klein, Sally A Moody
Abstract read
In one paragraphArticle in Development (Cambridge, England), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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5 · Who and what moneyAuthors and funding
8 authors.
Kelsey CoppenrathEugene Bell Center for Regenerative Biology and Tissue Engineering and National Xenopus Resource, Marine Biological Laboratory, Woods Hole, MA 02543, USA.
Nikko-Ideen ShaidaniEugene Bell Center for Regenerative Biology and Tissue Engineering and National Xenopus Resource, Marine Biological Laboratory, Woods Hole, MA 02543, USA.ORCID 0009-0004-7406-2017 Thomas NaertInstitute of Anatomy, University of Zurich, 8057 Zurich, Switzerland.
Himani D MajumdarDepartment of Anatomy & Cell Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA.
Marko HorbEugene Bell Center for Regenerative Biology and Tissue Engineering and National Xenopus Resource, Marine Biological Laboratory, Woods Hole, MA 02543, USA.
Steven L KleinDepartment of Anatomy & Cell Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA.ORCID 0000-0002-0616-2583 Sally A MoodyDepartment of Anatomy & Cell Biology, George Washington University School of Medicine and Health Sciences, Washington, DC 20037, USA.ORCID 0000-0003-4192-1087 Funding
Resource CoreP40OD010997 · OD · MARINE BIOLOGICAL LABORATORY · PI Marko E Horb · 2012 to 2026
$13.1MXenopus Mutant ResourceR24OD030008 · OD · MARINE BIOLOGICAL LABORATORY · PI Marko E Horb · 2020 to 2026
$6.0MSix1 Co-factors in Craniofacial DevelopmentR01DE026434 · NIDCR · GEORGE WASHINGTON UNIVERSITY · PI ALFANDARI, DOMINIQUE R, MOODY, SALLY ANN · 2018 to 2022
$1.9MGene Regulation of Cranial Sensory Placode DevelopmentR01DE022065 · NIDCR · GEORGE WASHINGTON UNIVERSITY · PI MOODY, SALLY ANN · 2011 to 2015
$1.7MBijzonder Onderzoeksfonds UGent 01P06323European Research Council 804474Fonds Wetenschappelijk Onderzoek 1294725NGeorge Washington UniversityH2020 European Research Council 804474H2020 Marie Sklodowska-Curie Actions 891127H2020 Marie Skłodowska-Curie Actions 891127Horizon 2020NIDCR NIH HHS R01 DE022065NIDCR NIH HHS R01 DE026434NIH HHS P40 OD010997NIH HHS R01 DE022065NIH HHS R01 DE026434NIH HHS R24 OD030008ODCDC CDC HHS P40 OD010997ODCDC CDC HHS R24 OD030008Research Foundation Flanders 1294725NSchweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung 310030_189102Swiss National Science Foundation 310031_189102Theiler-Haag Foundation
6 · The paper itselfAbstract
SIX1 variants underlying branchio-oto-renal syndrome occur in the SIX domain (SD) or homeodomain (HD). We tested whether different variants - V17E (SD), Y129C (HD) - cause distinct developmental phenotypes in Xenopus embryos with reduced Six1 in comparison to wild-type Six1 (Six1WT). In Six1 morphants, Six1WT restored neural crest and preplacodal gene expression; V17E restored foxd3 and irx1 better than Y129C, and Y129C restored sox11 better than V17E. In six1-null otic vesicles, Six1WT partially restored tbx1 and sobp, V17E was less effective and Y129C was least effective; all three restored dlx5. In six1 heterozygotes, Six1WT and Y129C had similar pleiotropic effects on tbx1, whereas V17E had no effect; Six1WT restored dlx5 expression, V17E was less effective and Y129C was most deficient. In six1-null tadpoles, reduced cranial cartilage volume and individual cartilage abnormalities were rescued by Six1WT, less so by V17E and not by Y129C. In heterozygotes and wild types, Y129C caused a higher frequency of abnormal cartilages compared to Six1WT or V17E. Thus, variants with different functional deficits have distinguishable effects in both nulls and heterozygotes on the formation of the tissues affected in branchio-oto-renal syndrome.
Indexed as
Branchio-Oto-Renal SyndromeCartilageGene Expression Regulation, DevelopmentalHomeodomain ProteinsSkullXenopus ProteinsAnimalsCraniofacial AbnormalitiesIntracellular Signaling Peptides and ProteinsNeural CrestNuclear ProteinsPhenotypeProtein Tyrosine PhosphatasesXenopus laevisEya1 protein, XenopusHomeodomain ProteinsIntracellular Signaling Peptides and ProteinsNuclear ProteinsProtein Tyrosine PhosphatasesSix1 protein, XenopusXenopus ProteinsBranchio-oto-renal syndromeCranial cartilageEya1Neural crestOtic vesiclePreplacodal ectoderm
Identifiers
PMID42290293
PMCPMC13347299
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