Cited by 231Axon Guidance and Neuronal SignalingDevelopmental Biology and Gene RegulationCongenital limb and hand anomalies

Control of Skeletal Patterning by EphrinB1-EphB Interactions

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Compagni, Amelia, Logan, Malcolm, Klein, Rüdiger, Adams, Ralf H.·2003·Developmental Cell

Abstract

We report that targeted inactivation of the Eph receptor ligand ephrinB1 in mouse caused perinatal lethality, edema, defective body wall closure, and skeletal abnormalities. In the thorax, sternocostal connections were arranged asymmetrically and sternebrae were fused, defects that were phenocopied in EphB2/EphB3 receptor mutants. In the wrist, loss of ephrinB1 led to abnormal cartilage segmentation and the formation of additional skeletal elements. We conclude that ephrinB1 and B class Eph receptors provide positional cues required for the normal morphogenesis of skeletal elements. Another malformation, preaxial polydactyly, was exclusively seen in heterozygous females in which expression of the X-linked ephrinB1 gene was mosaic, so that ectopic EphB-ephrinB1 interactions led to restricted cell movements and the bifurcation of digital rays. Our findings suggest that differential cell adhesion and sorting might be relevant for an unusual class of X-linked human genetic disorders, in which heterozygous females show more severe phenotypes than hemizygous males.

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Crossref · 10.1016/s1534-5807(03)00198-9

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  • In females, random X-inactivation generates groups of cells that either express or do not express ephrin-B1, and homophilic sorting increases patch size, causing abnormal tissue boundaries in coronal sutures and limbs.

    “In the female, random X-inactivation generates groups of cells that either express, or do not express ephrin-B1, and the homophilic sorting process increases the patch size of these cells, causing abnormal tissue boundaries (for example, in the coronal sutures and limbs).33”

    From Craniosynostosis (2011) · cites this paper as [33]

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Authors
Compagni, A., Logan, M., Klein, R., & Adams, R. H.
Affiliations
  • Cancer Research UK (GB)
  • Max Planck Society (DE)
Corresponding author
Adams, Ralf H.
Venue
Developmental Cell
Publisher
Elsevier BV
Published
2003-08
Volume
5
Issue
2
Pages
217-230
ISSN
1534-5807 (ISSN-L)
OpenAlex
W2014781971
Cited by
231
References
27
Citations by year
2025: 3 · 2024: 9 · 2023: 3 · 2022: 9 · 2021: 7 · 2020: 10 · 2019: 6 · 2018: 13 · 2017: 7 · 2016: 12 · 2015: 9 · 2014: 6 · 2013: 16 · 2012: 12
FWCI
4.56
Type
journal article
Language
en
Open access
Locations
  • Developmental Cell (publishedVersion)
  • PubMed (publishedVersion)
  • Max Planck Digital Library (submittedVersion)
  • MPG.PuRe (Max Planck Society) (submittedVersion)
Topics
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Axon Guidance and Neuronal Signaling
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Developmental Biology and Gene Regulation
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
Keywords
ephrin-B1, EphB receptors, EphB2, EphB3, skeletal patterning, cartilage segmentation, preaxial polydactyly, X-linked disorders, positional cues, cell adhesion, cell sorting, heterozygous females, perinatal lethality, mouse mutants
MeSH terms
Congenital Abnormalities, Animals, Embryo, Mammalian, Female, Humans, Male, Morphogenesis, Phenotype, Skeleton, Sternum, Signal Transduction, In Situ Hybridization, Gene Targeting, Body Patterning, Receptors, Eph Family, Receptor, EphB2, Ephrin-B1, Mice

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