ArticleBiology open2014
Boc modifies the spectrum of holoprosencephaly in the absence of Gas1 function.
Article in Biology open, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 32 citations in OpenAlex.
- Gas1 regulates embryonic tongue muscle proliferation, differentiation and maturation via alternative pathways to Hedgehog signaling.Development (Cambridge, England) · 2025Article
- Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Hedgehog-dependent and hedgehog-independent roles for growth arrest specific 1 in mammalian kidney morphogenesis.Development (Cambridge, England) · 2024Article
- CDON contributes to Hedgehog-dependent patterning and growth of the developing limb.Developmental biology · 2023Article
- Brain Organization and Human Diseases.Cells · 2022Review
- GAS1 is required for NOTCH-dependent facilitation of SHH signaling in the ventral forebrain neuroepithelium.Development (Cambridge, England) · 2021Article
- Concepts in Multifactorial Etiology of Developmental Disorders: Gene-Gene and Gene-Environment Interactions in Holoprosencephaly.Frontiers in cell and developmental biology · 2021Review
- The hedgehog co-receptor BOC differentially regulates SHH signaling during craniofacial development.Development (Cambridge, England) · 2020Article
- The hedgehog pathway and ocular developmental anomalies.Human genetics · 2019Review
- Sonic Hedgehog Signaling Is Required for Cyp26 Expression during Embryonic Development.International journal of molecular sciences · 2019Article
- Developmental processes regulate craniofacial variation in disease and evolution.Genesis (New York, N.Y. : 2000) · 2019Review
- Modeling the complex etiology of holoprosencephaly in mice.American journal of medical genetics. Part C, Seminars in medical genetics · 2018Review
- Positive and negative regulation of Shh signalling in vertebrate retinal development.F1000Research · 2018Review
- BOC is a modifier gene in holoprosencephaly.Human mutation · 2017Article
- Genetic interactions between the hedgehog co-receptors Gas1 and Boc regulate cell proliferation during murine palatogenesis.Oncotarget · 2016Article
- The Roles of Hedgehog Signaling in Upper Lip Formation.BioMed research international · 2015Review
- Expression analysis of candidate genes regulating successional tooth formation in the human embryo.Frontiers in physiology · 2014Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Holoprosencephaly is a heterogeneous developmental malformation of the central nervous system characterized by impaired forebrain cleavage, midline facial anomalies and wide phenotypic variation. Indeed, microforms represent the mildest manifestation, associated with facial anomalies but an intact central nervous system. In many cases, perturbations in sonic hedgehog signaling are responsible for holoprosencephaly. Here, we have elucidated the contribution of Gas1 and an additional hedgehog co-receptor, Boc during early development of the craniofacial midline, by generating single and compound mutant mice. Significantly, we find Boc has an essential role in the etiology of a unique form of lobar holoprosencephaly that only occurs in conjunction with combined loss of Gas1. Whilst Gas1(-/-) mice have microform holoprosencephaly characterized by a single median maxillary central incisor, cleft palate and pituitary anomalies, Boc(-/-) mice have a normal facial midline. However, Gas1(-/-); Boc(-/-) mutants have lobar holoprosencephaly associated with clefting of the lip, palate and tongue, secondary to reduced sonic hedgehog transduction in the central nervous system and face. Moreover, maxillary incisor development is severely disrupted in these mice, arresting prior to cellular differentiation as a result of apoptosis in the odontogenic epithelium. Thus, Boc and Gas1 retain an essential function in these tooth germs, independent of their role in midline development of the central nervous system and face. Collectively, this phenotype demonstrates both redundancy and individual requirements for Gas1 and Boc during sonic hedgehog transduction in the craniofacial midline and suggests BOC as a potential digenic locus for lobar holoprosencephaly in human populations.
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Registered trials
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