Mutations in a Sar1 GTPase of COPII vesicles are associated with lipid absorption disorders.
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.
Jones
Bethan
B
Genomic & Molecular Medicine Group, MRC Clinical Sciences Centre, Imperial College, London, England, UK.
Jones
Emma L
EL
Bonney
Stephanie A
SA
Patel
Hetal N
HN
Mensenkamp
Arjen R
AR
Eichenbaum-Voline
Sophie
S
Rudling
Mats
M
Myrdal
Urban
U
Annesi
Grazia
G
Naik
Sandhia
S
Meadows
Nigel
N
Quattrone
Aldo
A
Islam
Suhail A
SA
Naoumova
Rossitza P
RP
Angelin
Bo
B
Infante
Recaredo
R
Levy
Emile
E
Roy
Claude C
CC
Freemont
Paul S
PS
Scott
James
J
Shoulders
Carol C
CC
D022181:COP-Coated Vesicles / Q000201:enzymology; D002914:Chylomicrons / Q000378:metabolism; D004041:Dietary Fats / Q000493:pharmacokinetics*; D005260:Female; D020558:GTP Phosphohydrolases / Q000737:chemistry / Q000235:genetics*; D006011:Glycogen Storage Disease Type IV / Q000201:enzymology / Q000235:genetics; D006801:Humans; D007408:Intestinal Absorption; D008286:Malabsorption Syndromes / Q000201:enzymology* / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008958:Models, Molecular; D009154:Mutation; D010375:Pedigree; D011487:Protein Conformation; D013132:Spinocerebellar Degenerations / Q000201:enzymology / Q000235:genetics
D002914:Chylomicrons; D004041:Dietary Fats; D020558:GTP Phosphohydrolases