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Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders

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Abstract

Dietary fat is an important source of nutrition. Here we identify eight mutations in SARA2 that are associated with three severe disorders of fat malabsorption. The Sar1 family of proteins initiates the intracellular transport of proteins in COPII (coat protein)-coated vesicles. Our data suggest that chylomicrons, which vastly exceed the size of typical COPII vesicles, are selectively recruited by the COPII machinery for transport through the secretory pathways of the cell.

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Figure 1: Identification and characterization of mutations in CMRD, Anderson disease and CMRD-MSS.

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Acknowledgements

We thank G. Mcphail and J. Amey for their contributions to the study, T. Aitman and A. Soutar for critical reading of the manuscript and R. Lale-Montes for excellent secretarial assistance. We are indebted to the British Heart Foundation and Medical Research Council, Swedish Research Council and Heart-Lung Foundation. Approved gene symbols were obtained from the HUGO Gene Nomenclature Committee.

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Authors and Affiliations

  1. Genomic & Molecular Medicine Group, MRC Clinical Sciences Centre, Imperial College, London

    Bethan Jones, Emma L. Jones, Stephanie A. Bonney, Hetal N. Patel, Arjen R. Mensenkamp, Sophie Eichenbaum-Voline, Rossitza P. Naoumova, James Scott & Carol C. Shoulders

  2. England, UK

    Bethan Jones, Emma L. Jones, Stephanie A. Bonney, Hetal N. Patel, Arjen R. Mensenkamp, Sophie Eichenbaum-Voline, Rossitza P. Naoumova, James Scott & Carol C. Shoulders

  3. Center for Metabolism & Endocrinology and Center for Nutrition and Toxicology, Karolinska Institute at Huddinge University Hospital, Stockholm, Sweden

    Mats Rudling & Bo Angelin

  4. Department of Paediatrics, Central Hospital, Vasteras, Sweden

    Urban Myrdal

  5. Institute of Neurological Sciences, National Research Council, Piano Lago of Mangone, Consenza, Italy

    Grazia Annesi & Aldo Quattrone

  6. Department of Adult & Paediatric Gastroenterology, Barts and the London, Queen Mary's School of Medicine and Dentistry, London, UK

    Sandhia Naik & Nigel Meadows

  7. Structural Bioinformatics Group, Imperial College London, England, UK

    Suhail A. Islam

  8. Centre de Recherche INSERM, Paris, Cedex 12, France

    Recaredo Infante

  9. Centre de Recherche, Hôpital Sainte-Justine, Universite de Montréal, Canada

    Emile Levy & Claude C. Roy

  10. Centre for Structural Biology Department of Biological Sciences, Imperial College London, England, UK

    Paul S. Freemont

  11. Imperial College Genetics and Genomics Research Institute, Imperial College London, England, UK

    James Scott

Authors
  1. Bethan Jones
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  2. Emma L. Jones
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  3. Stephanie A. Bonney
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  4. Hetal N. Patel
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  5. Arjen R. Mensenkamp
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  6. Sophie Eichenbaum-Voline
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  7. Mats Rudling
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  8. Urban Myrdal
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  9. Grazia Annesi
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  10. Sandhia Naik
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  11. Nigel Meadows
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  12. Aldo Quattrone
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  13. Suhail A. Islam
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  14. Rossitza P. Naoumova
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  15. Bo Angelin
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  16. Recaredo Infante
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  17. Emile Levy
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  18. Claude C. Roy
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  19. Paul S. Freemont
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  20. James Scott
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  21. Carol C. Shoulders
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Corresponding authors

Correspondence to James Scott or Carol C. Shoulders.

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The authors declare no competing financial interests.

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Jones, B., Jones, E., Bonney, S. et al. Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders. Nat Genet 34, 29–31 (2003). https://doi.org/10.1038/ng1145

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  • DOI: https://doi.org/10.1038/ng1145

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