ArticleScience (New York, N.Y.)2026
In situ structure of the human ciliary transition zone links linker defects to primary ciliary dyskinesia.
Haixia Zhou, Lea Terbeck, Andrew Berical, Marine Brunet, Sven M Lange, Jacob R Anderson, Heike Olbrich, Diana Carolin Bracht, Kai Wohlgemuth, Cynthia Rieck and 12 more
Abstract read
In one paragraphArticle in Science (New York, N.Y.), 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
22 authors.
Haixia Zhou *Department of Biological Chemistry and Molecular Pharmacology, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-9676-6267 Lea Terbeck *Department of General Pediatrics, University Children's Hospital Münster, Münster, Germany.ORCID 0009-0009-1275-1454 Andrew BericalCenter for Regenerative Medicine of Boston University and Boston Medical Center, Boston, MA, USA.ORCID 0000-0002-0818-0259 Marine BrunetDepartment of Molecular and Cellular Biology, Sciences III, University of Geneva, Geneva, Switzerland.ORCID 0000-0001-7878-3832 Sven M LangeDepartment of Biological Chemistry and Molecular Pharmacology, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-6011-8647 Jacob R AndersonDepartment of Biological Chemistry and Molecular Pharmacology, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-1179-717X Heike OlbrichDepartment of General Pediatrics, University Children's Hospital Münster, Münster, Germany.
Diana Carolin BrachtDepartment of General Pediatrics, University Children's Hospital Münster, Münster, Germany.ORCID 0000-0002-2151-038X Kai WohlgemuthDepartment of General Pediatrics, University Children's Hospital Münster, Münster, Germany.ORCID 0000-0003-4092-0664 Cynthia RieckDepartment of General Pediatrics, University Children's Hospital Münster, Münster, Germany.ORCID 0009-0007-0487-0299 Johanna RaidtDepartment of General Pediatrics, University Children's Hospital Münster, Münster, Germany.ORCID 0000-0002-1571-2647 Jürgen KlingaufInstitute of Medical Physics and Biophysics, University of Münster, Münster, Germany.ORCID 0009-0003-2762-7938 Sivagurunathan SutharsanDepartment of Pulmonary Medicine, University Hospital Essen - Ruhrlandklinik, University of Duisburg-Essen, Essen, Germany.ORCID 0000-0003-4069-4900 Huda MussaffiPulmonary Institute, Schneider Children's Medical Center, Petah Tikva, Israel, Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.ORCID 0000-0001-8840-5958 Dario PraisPulmonary Institute, Schneider Children's Medical Center, Petah Tikva, Israel, Gray Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.ORCID 0000-0002-4165-0144 Victoria DunphyCenter for Regenerative Medicine of Boston University and Boston Medical Center, Boston, MA, USA.ORCID 0009-0009-2738-3199 Sachiko T HommaCenter for Regenerative Medicine of Boston University and Boston Medical Center, Boston, MA, USA.ORCID 0000-0001-6563-8521 Paul GuichardDepartment of Molecular and Cellular Biology, Sciences III, University of Geneva, Geneva, Switzerland.ORCID 0000-0002-0363-1049 Virginie HamelDepartment of Molecular and Cellular Biology, Sciences III, University of Geneva, Geneva, Switzerland.ORCID 0000-0001-5092-2343 Finn J HawkinsCenter for Regenerative Medicine of Boston University and Boston Medical Center, Boston, MA, USA.ORCID 0000-0002-2246-6448 Heymut OmranDepartment of General Pediatrics, University Children's Hospital Münster, Münster, Germany.ORCID 0000-0003-0282-6765 Alan BrownDepartment of Biological Chemistry and Molecular Pharmacology, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.ORCID 0000-0002-0021-0476 Funding
Patient-specific iPSCs to model and treat the inception of pulmonary fibrosisP01HL170952 · NHLBI · BOSTON UNIVERSITY MEDICAL CAMPUS · PI Darrell N. Kotton · 2024 to 2026
$11.4MMolecular mechanisms regulating ciliary motilityR35GM161402 · NIGMS · HARVARD MEDICAL SCHOOL · PI Alan Brown · 2026 to 2026
$648kNHLBI NIH HHS P01 HL170952NIGMS NIH HHS R35 GM161402
6 · The paper itselfAbstract
The ciliary transition zone (TZ) regulates ciliary proteome composition, yet its molecular architecture, protein content, and contribution to motile ciliopathies remain poorly defined. We applied in situ cryo-electron tomography and subtomogram averaging to human multiciliated epithelial cells. This approach resolved TZ-specific doublet microtubules at subnanometer resolution and identified nine constituent proteins. We identified that ECT2L and DZANK1 form the major linker complexes between adjacent TZ doublet microtubules. Biallelic loss-of-function variants in either gene cause primary ciliary dyskinesia.
Identifiers
PMID42721274
PMCPMC13650764
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