ArticleHuman molecular genetics2015
MBTPS1/SKI-1/S1P proprotein convertase is required for ECM signaling and axial elongation during somitogenesis and vertebral development†.
Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 26 citations in OpenAlex.
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- Positive Evolution of a Child Suffering from Caudal Regression Syndrome and Agenesia Sacra After Treatment with Growth Hormone and Rehabilitation.International journal of molecular sciences · 2025Article
- S1P regulates intervertebral disc aging by mediating endoplasmic reticulum-mitochondrial calcium ion homeostasis.JCI insight · 2024Article
- Exome Sequencing Reveals Biallelic Mutations inDiagnostics (Basel, Switzerland) · 2024Article
- Bone and the Unfolded Protein Response: In Sickness and in Health.Calcified tissue international · 2023Review
- Caudal Regression Syndrome-A Narrative Review: An Orthopedic Point of View.Children (Basel, Switzerland) · 2023Review
- Long-read genome assemblies reveal aZoological research · 2023Article
- Case Report: Recombinant human growth hormone therapy in a patient with spondyloepiphyseal dysplasia, Kondo-Fu type.Frontiers in pediatrics · 2023Article
- New developments in the biology of fibroblast growth factors.WIREs mechanisms of disease · 2022Review
- Finding New Ways How to Control BACE1.The Journal of membrane biology · 2022Article
- Site-1 protease controls osteoclastogenesis by mediating LC3 transcription.Cell death and differentiation · 2021Article
- Developmental and extrahepatic physiological functions of SREBP pathway genes in mice.Seminars in cell & developmental biology · 2018Review
- Site-1 protease deficiency causes human skeletal dysplasia due to defective inter-organelle protein trafficking.JCI insight · 2018Article
- AnJBMR plus · 2018Article
- The PCSK9 revolution and the potential of PCSK9-based therapies to reduce LDL-cholesterol.Global cardiology science & practice · 2017Review
- Growth Hormone (GH) and Rehabilitation Promoted Distal Innervation in a Child Affected by Caudal Regression Syndrome.International journal of molecular sciences · 2017Article
- Deletion of Mbtps1 (Pcsk8, S1p, Ski-1) Gene in Osteocytes Stimulates Soleus Muscle Regeneration and Increased Size and Contractile Force with Age.The Journal of biological chemistry · 2016Article
- Bone muscle crosstalk targets muscle regeneration pathway regulated by core circadian transcriptional repressors DEC1 and DEC2.BoneKEy reports · 2016Review
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
Abstract
Caudal regression syndrome (sacral agenesis), which impairs development of the caudal region of the body, occurs with a frequency of about 2 live births per 100 000 newborns although this incidence rises to 1 in 350 infants born to mothers with gestational diabetes. The lower back and limbs can be affected as well as the genitourinary and gastrointestinal tracts. The axial skeleton is formed during embryogenesis through the process of somitogenesis in which the paraxial mesoderm periodically segments into bilateral tissue blocks, called somites. Somites are the precursors of vertebrae and associated muscle, tendons and dorsal dermis. Vertebral anomalies in caudal regression syndrome may arise through perturbation of somitogenesis or, alternatively, could result from defective bone formation and patterning. We discovered that MBTPS1/SKI-1/S1P, which proteolytically activates a class of transmembrane transcription factors, plays a critical role in somitogenesis and the pathogenesis of lumbar/sacral vertebral anomalies. Conditional deletion of Mbtps1 yields a viable mouse with misshapen, fused and reduced number of lumbar and sacral vertebrae, under-developed hind limb bones and a kinky, shortened tail. We show that Mbtps1 is required to (i) maintain the Fgf8 'wavefront' in the presomitic mesoderm that underpins axial elongation, (ii) sustain the Lfng oscillatory 'clock' activity that governs the periodicity of somite formation and (iii) preserve the composition and character of the somitic extracellular matrix containing fibronectin, fibrillin2 and laminin. Based on this spinal phenotype and known functions of MBTPS1, we reason that loss-of-function mutations in Mbtps1 may cause the etiology of caudal regression syndrome.
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