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Brief Communication
Nature Genetics  34, 29 - 31 (2003)
Published online: 14 April 2003; | doi:10.1038/ng1145

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

Bethan Jones1, Emma L. Jones1, Stephanie A. Bonney1, Hetal N. Patel1, Arjen R. Mensenkamp1, Sophie Eichenbaum-Voline1, Mats Rudling2, Urban Myrdal3, Grazia Annesi4, Sandhia Naik5, Nigel Meadows5, Aldo Quattrone4, Suhail A. Islam6, Rossitza P. Naoumova1, Bo Angelin2, Recaredo Infante7, Emile Levy8, Claude C. Roy8, Paul S. Freemont9, James Scott1, 10 & Carol C. Shoulders1

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

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

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

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

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

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

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

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

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

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

Correspondence should be addressed to James Scott j.scott@ic.ac.uk or Carol C. Shoulders carol.shoulders@csc.mrc.ac.uk
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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Nature Genetics
ISSN: 1061-4036
EISSN: 1546-1718
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