|
|
 Previous Article | Table of Contents | Next Article 
Identification of molecular defects in a subject with type I CD36
deficiency
H Kashiwagi, Y Tomiyama, S Kosugi, M Shiraga, RH Lipsky, Y Kanayama, Y Kurata and Y Matsuzawa
Second Department of Internal Medicine, Osaka University Medical School,
Japan.
We performed a molecular analysis of a subject whose platelets and
monocytes did not express any cell surface CD36 (designated as a type I
CD36 deficiency). Amplification of the 5' half of platelet and monocyte
CD36cDNA (corresponding to nucleotide [nt] 191-1009 of the published CD36
cDNA sequence [Oquendo et al, Cell, 58:95, 1989]) showed that two
different-sized CD36 cDNAs existed. One cDNA was of predicted normal size,
whereas the other was about 150 bp smaller than that predicted for normal
CD36 cDNA. Amplification of the 3' region of CD36 cDNA (nt 962-1714) in
this subject showed only normal-sized CD36 cDNA. Cloning and nt sequence
analysis of the cDNAs showed that the smaller sized CD36 cDNA had 161-bp
deletion (from nt 331 to 491), and a dinucleotide deletion starting at nt
position 539. The same dinucleotide deletion was also detected in the
normal sized CD36 cDNA. Both deletions caused a frameshift leading to the
appearance of a translation stop codon. RNA blot analysis and quantitative
assay using the reverse transcription- polymerase chain reaction (RT-PCR)
showed that the CD36 transcripts in both platelets and monocytes were
greatly reduced. Comparison of the determined cDNA sequences with the
genomic DNA sequence for the human CD36 gene showed that the dinucleotide
deletion was located in exon 5, and that the 161-bp deletion corresponded
to a loss of exon 4. PCR- based analysis using genomic DNA showed that this
subject was homozygous for the dinucleotide deletion in exon 5. Except for
the dinucleotide deletion, we could not find any abnormalities around exon
3, 4, and 5 including the splice junctions. These results suggested that
the deletions in CD36 mRNA were likely to be responsible for instability of
the transcripts, and the dinucleotide deletion in exon 5 might affect the
splicing of exon 4.
Volume 83,
Issue 12,
pp. 3545-3552,
06/15/1994
Copyright © 1994 by The American Society of Hematology
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati What's this?
This article has been cited by other articles:
|
|
|
|
 
F. Nassir, B. Wilson, X. Han, R. W. Gross, and N. A. Abumrad
CD36 Is Important for Fatty Acid and Cholesterol Uptake by the Proximal but Not Distal Intestine
J. Biol. Chem.,
July 6, 2007;
282(27):
19493 - 19501.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
T. Tanaka, T. Kono, F. Terasaki, T. Kintaka, K. Sohmiya, T. Mishima, and Y. Kitaura
Gene-environment interactions in wet beriberi: effects of thiamine depletion in CD36-defect rats
Am J Physiol Heart Circ Physiol,
October 1, 2003;
285(4):
H1546 - H1553.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
H Hanawa, K Watanabe, T Nakamura, Y Ogawa, K Toba, I Fuse, M Kodama, K Kato, K Fuse, and Y Aizawa
Identification of cryptic splice site, exon skipping, and novel point mutations in type I CD36 deficiency
J. Med. Genet.,
April 1, 2002;
39(4):
286 - 291.
[Full Text]
[PDF]
|
|
|
|
|
|
|
T. Tanaka, T. Nakata, T. Oka, T. Ogawa, F. Okamoto, Y. Kusaka, K. Sohmiya, K. Shimamoto, and K. Itakura
Defect in human myocardial long-chain fatty acid uptake is caused by FAT/CD36 mutations
J. Lipid Res.,
May 1, 2001;
42(5):
751 - 759.
[Abstract]
[Full Text]
|
|
|
|
|
|
|
J. Feng, J. Han, S. F. A. Pearce, R. L. Silverstein, A. M. Gotto , Jr., David. P. Hajjar, and A. C. Nicholson
Induction of CD36 expression by oxidized LDL and IL-4 by a common signaling pathway dependent on protein kinase C and PPAR-{gamma}
J. Lipid Res.,
May 1, 2000;
41(5):
688 - 696.
[Abstract]
[Full Text]
|
|
|
|
|
|
|
A. Nakata, Y. Nakagawa, M. Nishida, S. Nozaki, J.-i. Miyagawa, T. Nakagawa, R. Tamura, K. Matsumoto, K. Kameda-Takemura, S. Yamashita, et al.
CD36, a Novel Receptor for Oxidized Low-Density Lipoproteins, Is Highly Expressed on Lipid-Laden Macrophages in Human Atherosclerotic Aorta
Arterioscler Thromb Vasc Biol,
May 1, 1999;
19(5):
1333 - 1339.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
J. Han, D. P. Hajjar, M. Febbraio, and A. C. Nicholson
Native and Modified Low Density Lipoproteins Increase the Functional Expression of the Macrophage Class B Scavenger Receptor, CD36
J. Biol. Chem.,
August 22, 1997;
272(34):
21654 - 21659.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
H. Kashiwagi, Y. Tomiyama, S. Nozaki, S. Honda, S. Kosugi, M. Shiraga, T. Nakagawa, N. Nagao, Y. Kanakura, Y. Kurata, et al.
A Single Nucleotide Insertion in Codon 317 of the CD36 Gene Leads to CD36 Deficiency
Arterioscler Thromb Vasc Biol,
August 1, 1996;
16(8):
1026 - 1032.
[Abstract]
[Full Text]
|
|
|
|
|
