Roles of the cilium-associated gene CCDC11 in left-right patterning and in laterality disorders in humans.

  title={Roles of the cilium-associated gene CCDC11 in left-right patterning and in laterality disorders in humans.},
  author={Michal Gur and E. B. Cohen and O. Genin and A. Fainsod and Z. Perles and Y. Cinnamon},
  journal={The International journal of developmental biology},
  volume={61 3-4-5},
Axial determination occurs during early stages of embryogenesis. Flaws in laterality patterning result in abnormal positioning of visceral organs, as manifested in heterotaxy syndrome, or complete left-right inversion as in situs inversus totalis. These malformations are often associated with ciliopathies, as seen in primary ciliary dyskinesia. We have recently described a novel mutation in the Coiled-Coil Domain-Containing 11 (CCDC11) gene associated with laterality disorders in a… Expand
The Heterotaxy Gene CCDC11 is Essential for Cytokinesis and Cell-Cell Adhesion via RhoA Regulation
The results suggest that CCDC11 connects cytokinesis and LR patterning via RhoA regulation, providing a potential mechanism for heterotaxy disease pathogenesis. Expand
Expression of primary cilia-related genes in developing mouse gonads.
This work studies the expression of genes involved in primary cilium formation and function-ing in fetal mouse gonads, before, during and after sexual differentiation, and suggests that the primary cilia and/orPrimary cilia-related genes are important for the development of both somatic and germline component of the gonads. Expand
The Cilium- and Centrosome-Associated Protein CCDC11 Is Required for Cytokinesis via Midbody Recruitment of the ESCRT- III Membrane Scission Complex Subunit CHMP2A
Introduction The coiled-coil domain-containing 11 (CCDC11) protein is a 62-kDa polypeptide that is associated with both ciliary and centriolar satellite structures (1-3). Cilia are microtubule-basedExpand
The genetics of situs inversus without primary ciliary dyskinesia
The genomes of 15 people with SI were sequenced, of which six had PCD, as well as 15 controls, which suggested possible developmental mechanisms linking brain and body laterality and environmental influences, or possible random effects in early development, must be considered. Expand
The genetics of situs inversus totalis without primary ciliary dyskinesia
The genomes of 15 people with and without SIT were sequenced, finding that those without PCD may have an elevated rate of left-handedness, implying developmental mechanisms linking brain and body laterality, as well as environmental influences or random effects in early development. Expand
Mechanical strain, novel genes and evolutionary insights: news from the frog left-right organizer.
  • M. Blum, Tim Ott
  • Biology, Medicine
  • Current opinion in genetics & development
  • 2019
Studying mutant alleles causing human organ situs defects and following novel EvoDevo approaches, new genes were discovered and functionally characterized in the frog, facilitated by a unique set of experimental tools. Expand
CCDC114, DNAI2 and TOP2A involves in the effects of tibolone treatment on postmenopausal endometrium
CCDC114 and DNAI2 might play important roles in tibolone-treated postmenopausal women via cilium movement function and TOP2A might be a crucial target of tIBolone in endometrium of post menopausal women. Expand


Mutations in CCDC11, which Encodes a Coiled‐Coil Containing Ciliary Protein, Causes Situs Inversus Due to Dysmotility of Monocilia in the Left–Right Organizer
It is demonstrated that CCDC11 has a conserved essential function in cilia of the vertebrate LR organizer, which is the first ciliary component, which has a differential localization and function in different kinds of motile cilia. Expand
The NIMA-like kinase Nek2 is a key switch balancing cilia biogenesis and resorption in the development of left-right asymmetry
Data show that Nek2 is a switch balancing ciliogenesis and resorption in the development of LR asymmetry, and evidence is provided that the known interaction between Nek2 and Nup98, a nucleoporin that localizes to the ciliary base, is important for regulating cilium Resorption. Expand
Mutation of an axonemal dynein affects left–right asymmetry in inversus viscerum mice
The development of characteristic visceral asymmetries along the left–right (LR) axis in an initially bilaterally symmetrical embryo is an essential feature of vertebrate patterning. The allelicExpand
A Zebrafish Loss‐of‐Function Model for Human CFAP53 Mutations Reveals Its Specific Role in Laterality Organ Function
It is shown that cfap53 is required for cilia rotation specifically in Kupffer's vesicle, the zebrafishLaterality organ, providing a mechanism by which patients with CFAP53 mutations develop dextrocardia and heterotaxy, and confirming previous evidence that left–right asymmetry in humans is regulated through cilia‐driven fluid flow in a laterality organ. Expand
The Forkhead protein, FoxJ1, specifies node-like cilia in Xenopus and Zebrafish embryos
Xenopus and zebrafish homologs of Foxj1, a forkhead transcription factor necessary for ciliogenesis in multiciliated cells of the mouse, are analyzed and microarray analysis indicates that Xenopus FoxJ1 induces the formation of cilia by upregulating the expression of motile cilia genes. Expand
Systematic discovery of novel ciliary genes through functional genomics in the zebrafish
This work identifies the genes induced by Foxj1, a winged-helix transcription factor that has an evolutionarily conserved role as the master regulator of motile cilia biogenesis, and finds that over 60% are required for ciliary differentiation or function, whereas 30% of the proteins encoded by these genes localize to motiles cilia. Expand
Ciliation and gene expression distinguish between node and posterior notochord in the mammalian embryo.
A posterior segment of the notochord is characterized by features known to be involved in laterality determination, the GRP in Xenopus is equivalent to the mammalian PNC, and the mammalian node as defined by organizer gene expression is devoid of cilia and most likely not directly involved inLaterality determination. Expand
A human laterality disorder associated with recessive CCDC11 mutation
The authors suggest that CCDC11 is associated with autosomal recessive laterality defects of diverse phenotype resulting in SIT in one individual family member who is otherwise healthy, and in complex laterality anomalies (HS) in another member. Expand
Fish and frogs: models for vertebrate cilia signaling.
  • O. Wessely, T. Obara
  • Biology, Medicine
  • Frontiers in bioscience : a journal and virtual library
  • 2008
Lower vertebrate model systems such as zebrafish, medaka and Xenopus have provided important new insights into cilia signaling and its role during embryonic development and this review will summarize those studies. Expand
Kupffer's vesicle is a ciliated organ of asymmetry in the zebrafish embryo that initiates left-right development of the brain, heart and gut
The proposed KV is a transient embryonic `organ of asymmetry' that directs LR development by establishing a directional fluid flow and genetic analysis reveals novel roles for the T-box transcription factor no tail and the Nodal signaling pathway as upstream regulators of lrdr1 expression and KV morphogenesis. Expand