ArticleNature genetics2022
Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates.
Article in Nature genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 43 citations in OpenAlex.
- Isomeric Bodily Situs in the Era of Universal Prenatal Detection: Highlighting Computed Tomographic Findings in Those with Complex Cardiovascular Malformations.Pediatric cardiology · 2026Article
- Further Support for Association ofGenes · 2026Article
- Interrupted Inferior Caval Vein in the Era of High Prenatal Detection Highlighting Postnatal Computed Tomographic Findings in Those Without Complex Cardiac Malformations.Pediatric cardiology · 2026Article
- Ccdc57 regulates cilia and left-right patterning in Xenopus.Biology open · 2026Article
- Profylo: A Python Package for Phylogenetic Profile Comparison and Analysis.Journal of molecular evolution · 2025Article
- Plasticity of ventricle position after heart looping in heterotaxy with right isomerism.Science advances · 2025Article
- Enigmatic Nodal and Lefty gene repertoire discrepancy: Latent evolutionary history revealed by vertebrate-wide phylogeny.Developmental dynamics : an official publication of the American Association of Anatomists · 2025Review
- Molecular anatomy of emerging Xenopus left-right organizer at successive developmental stages.Developmental dynamics : an official publication of the American Association of Anatomists · 2025Article
- 3D spatial transcriptomics reveals the molecular structure of input and output pathways in the mouse olfactory bulb.bioRxiv : the preprint server for biology · 2025Article
- Recessive genetic contribution to congenital heart disease in 5,424 probands.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Notch3 is an asymmetric gene and a modifier of heart looping defects in Nodal mouse mutants.PLoS biology · 2025Article
- CIROZ is dispensable in ancestral vertebrates but essential for left-right patterning in humans.American journal of human genetics · 2025Article
- Article
- Natural reversal of cavefish heart asymmetry is controlled by Sonic Hedgehog effects on the left-right organizer.Development (Cambridge, England) · 2024Article
- [Clinical Characteristics Analysis of 1051 Cases of Cleft Lip With/Without Cleft Palate in the Ethnic Tibetan Population].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2024Article
- R-Spondin 2 governs Xenopus left-right body axis formation by establishing an FGF signaling gradient.Nature communications · 2024Article
- Left-sided perforated appendicitis in a patient with situs inversus totalis, a case report.SAGE open medical case reports · 2024Article
- A Case Report of Dextrocardia with Situs Inversus: A Rare Condition and Its Clinical Importance.Case reports in medicine · 2024Article
- Transcriptome analyses of murine right and left maxilla-mandibular complex.Orthodontics & craniofacial research · 2023Article
- The role of cilia during organogenesis in zebrafish.Open biology · 2023Review
Corrections and comments
- Erratum issued
Authors and funding
41 authors at 20 institutions in 8 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The vertebrate left-right axis is specified during embryogenesis by a transient organ: the left-right organizer (LRO). Species including fish, amphibians, rodents and humans deploy motile cilia in the LRO to break bilateral symmetry, while reptiles, birds, even-toed mammals and cetaceans are believed to have LROs without motile cilia. We searched for genes whose loss during vertebrate evolution follows this pattern and identified five genes encoding extracellular proteins, including a putative protease with hitherto unknown functions that we named ciliated left-right organizer metallopeptide (CIROP). Here, we show that CIROP is specifically expressed in ciliated LROs. In zebrafish and Xenopus, CIROP is required solely on the left side, downstream of the leftward flow, but upstream of DAND5, the first asymmetrically expressed gene. We further ascertained 21 human patients with loss-of-function CIROP mutations presenting with recessive situs anomalies. Our findings posit the existence of an ancestral genetic module that has twice disappeared during vertebrate evolution but remains essential for distinguishing left from right in humans.
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