Human Molecular Genetics, Vol 7, 847-853, Copyright © 1998 by Oxford University Press
R Ofman, EH Hettema, EM Hogenhout, U Caruso, AO Muijsers and RJ Wanders
Rhizomelic chondrodysplasia punctata (RCDP) is a genetic disorder which is
clinically characterized by rhizomelic shortening of the upper extremities,
typical dysmorphic facial appearance, congenital contractures and severe
growth and mental retardation. Patients with RCDP can be subdivided into
three subgroups based on biochemical analyses and complementation studies.
The largest subgroup contains patients with mutations in the PEX7 gene
encoding the PTS2 receptor. This results in multiple peroxisomal
abnormalities which includes a deficiency of
acyl-CoA:dihydroxyacetonephosphate acyltransferase (DHAPAT),
alkyl-dihydroxyacetonephosphate synthase (alkyl-DHAP synthase), peroxisomal
3-ketoacyl-CoA thiolase and phytanoyl-CoA hydroxylase, although there are
differences in the extent of the deficiencies observed. Patients in the two
other subgroups have been reported to be either deficient in the activity
of DHAPAT (RCDP type 2) or alkyl-DHAP synthase (RCDP type 3) while no other
abnormalities could be observed. To examine whether the gene encoding
DHAPAT is mutated in patients with RCDP type 2, we determined the
N-terminal amino acid sequence of the enzyme isolated from human placenta.
Using this sequence as a query, we identified a 2040 bp open reading frame
(ORF) in the human database of expressed sequence tags. Expression of this
ORF in the yeast Saccharomyces cerevisiae showed that we have identified
the DHAPAT cDNA. The deduced amino acid sequence revealed no PTS2 consensus
sequence. In contrast DHAPAT appears to contain a putative PTS1 at the
extreme C-terminus. All RCDP type 2 patients analyzed were found to contain
mutations in their DHAPAT cDNA. This demonstrates that RCDP type 2 is the
result of mutations in DHAPAT.
ARTICLES
Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2
Department of Clinical Chemistry, Academic Medical Centre, University of Amsterdam, The Netherlands.
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  R. E. Gimeno and J. Cao Thematic Review Series: Glycerolipids. Mammalian glycerol-3-phosphate acyltransferases: new genes for an old activity J. Lipid Res., October 1, 2008; 49(10): 2079 - 2088. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y.-M. Zhang and C. O. Rock Thematic Review Series: Glycerolipids. Acyltransferases in bacterial glycerophospholipid synthesis J. Lipid Res., September 1, 2008; 49(9): 1867 - 1874. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 X. Chen, B. A. Hyatt, M. L. Mucenski, R. J. Mason, and J. M. Shannon Identification and characterization of a lysophosphatidylcholine acyltransferase in alveolar type II cells PNAS, August 1, 2006; 103(31): 11724 - 11729. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. P. Beigneux, L. Vergnes, X. Qiao, S. Quatela, R. Davis, S. M. Watkins, R. A. Coleman, R. L. Walzem, M. Philips, K. Reue, et al. Agpat6--a novel lipid biosynthetic gene required for triacylglycerol production in mammary epithelium J. Lipid Res., April 1, 2006; 47(4): 734 - 744. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R. Zufferey and C. B. Mamoun Leishmania major Expresses a Single Dihydroxyacetone Phosphate Acyltransferase Localized in the Glycosome, Important for Rapid Growth and Survival at High Cell Density and Essential for Virulence J. Biol. Chem., March 24, 2006; 281(12): 7952 - 7959. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Sigirci, A. Alkan, R. Kutlu, and H. Gulcan Multivoxel Magnetic Resonance Spectroscopy in a Rhizomelic Chondrodysplasia Punctata Case J Child Neurol, August 1, 2005; 20(8): 698 - 701. [Abstract] [PDF]
|
|
|
|
|
|
D. Liu, N. Nagan, W. W. Just, C. Rodemer, T.-P. Thai, and R. A. Zoeller Role of dihydroxyacetonephosphate acyltransferase in the biosynthesis of plasmalogens and nonether glycerolipids J. Lipid Res., April 1, 2005; 46(4): 727 - 735. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. R. Gonzalez-Baro, D. A. Granger, and R. A. Coleman Mitochondrial Glycerol Phosphate Acyltransferase Contains Two Transmembrane Domains with the Active Site in the N-terminal Domain Facing the Cytosol J. Biol. Chem., November 9, 2001; 276(46): 43182 - 43188. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 T.-P. Thai, C. Rodemer, A. Jauch, A. Hunziker, A. Moser, K. Gorgas, and W. W. Just Impaired membrane traffic in defective ether lipid biosynthesis Hum. Mol. Genet., January 1, 2001; 10(2): 127 - 136. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. K. Hajra, L. K. Larkins, A. K. Das, N. Hemati, R. L. Erickson, and O. A. MacDougald Induction of the Peroxisomal Glycerolipid-synthesizing Enzymes during Differentiation of 3T3-L1 Adipocytes. ROLE IN TRIACYLGLYCEROL SYNTHESIS J. Biol. Chem., March 24, 2000; 275(13): 9441 - 9446. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. C. J. M. de Vet, L. Ijlst, W. Oostheim, C. Dekker, H. W. Moser, H. van den Bosch, and R. J. A. Wanders Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities J. Lipid Res., November 1, 1999; 40(11): 1998 - 2003. [Abstract] [Full Text]
|
|
|
|
 |
|
 C. Chang, S South, D Warren, J Jones, A. Moser, H. Moser, and S. Gould Metabolic control of peroxisome abundance J. Cell Sci., January 5, 1999; 112(10): 1579 - 1590. [Abstract] [PDF]
|
|