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

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Control of Skeletal Patterning by EphrinB1-EphB Interactions

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

DOI 10.1016/s1534-5807(03)00198-9

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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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Authors: Compagni, A., Logan, M., Klein, R., & Adams, R. H.
Affiliations: Cancer Research UK (GB)
Max Planck Society (DE)
Corresponding author: Adams, Ralf H.
ORCID: Compagni, Amelia
Logan, Malcolm
Klein, Rüdiger
Adams, Ralf H.
Venue: Developmental Cell
Publisher: Elsevier BV
Published: 2003-08
Volume: 5
Issue: 2
Pages: 217-230
ISSN: 1534-5807 (ISSN-L)
DOI: 10.1016/s1534-5807(03)00198-9
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: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 3638 d)
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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Control of Skeletal Patterning by EphrinB1-EphB Interactions

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