Human Molecular Genetics Advance Access published online on September 23, 2003
Human Molecular Genetics, doi:10.1093/hmg/ddg321
© 2003 by Oxford University Press
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
1 Center for Molecular and Human Genetics, Columbus Children's Research Institute, Columbus, OH 43205
* To whom correspondence should be addressed. E-mail: HermanG{at}pediatrics.ohio-state.edu.
NSDHL, for NAD(P)H steroid dehydrogenase-like, encodes a sterol dehydrogenase or decarboxylase involved in the sequential removal of two C-4 methyl groups in post-squalene cholesterol biosynthesis. Mutations in this gene are associated with human CHILD syndrome (congenital hemidysplasia with ichthyosiform nevus and limb defects), an X-linked, male lethal disorder, as well as the mouse mutations bare patches and striated. In the present study, we have investigated the subcellular localization of tagged proteins encoded by wild type and selected mutant murine Nsdhl alleles using confocal microscopy. In addition to an ER localization commonly found for enzymes of post-squalene cholesterol biosynthesis, we have identified a novel association of NSDHL with lipid droplets, which are ER-derived cytoplasmic structures that contain a neutral lipid core. We further demonstrate that trafficking through the Golgi is necessary for ER membrane localization of the protein and propose a model for the association of NSDHL with lipid droplets. The dual localization of NSDHL within ER membranes and on the surface of lipid droplets may provide another mechanism for regulation of the levels and sites of accumulation of intracellular cholesterol.
Article
NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets
2 Center for Molecular and Human Genetics, Columbus Children's Research Institute, 700 Children's Drive, Room W403, Columbus, OH 43205; Department of Pediatrics, The Ohio State University, Columbus, OH 43205
Abstract 
CiteULike 
Connotea 
Del.icio.us What's this?
This article has been cited by other articles:
|
|
 |
|
  D. Cunningham, T. Talabere, N. Bir, M. Kennedy, K. L. McBride, and G. E. Herman Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos Hum. Mol. Genet., November 11, 2009; (2009) ddp502v2. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. M. Goodman Demonstrated and inferred metabolism associated with cytosolic lipid droplets J. Lipid Res., November 1, 2009; 50(11): 2148 - 2156. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Honda, K. Yamashita, H. Miyazaki, M. Shirai, T. Ikegami, G. Xu, M. Numazawa, T. Hara, and Y. Matsuzaki Highly sensitive analysis of sterol profiles in human serum by LC-ESI-MS/MS J. Lipid Res., September 1, 2008; 49(9): 2063 - 2073. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 Y. Zhou, X. Zhang, L. Chen, J. Wu, H. Dang, M. Wei, Y. Fan, Y. Zhang, Y. Zhu, N. Wang, et al. Expression profiling of hepatic genes associated with lipid metabolism in nephrotic rats Am J Physiol Renal Physiol, September 1, 2008; 295(3): F662 - F671. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 H.-C. Wan, R. C. N. Melo, Z. Jin, A. M. Dvorak, and P. F. Weller Roles and origins of leukocyte lipid bodies: proteomic and ultrastructural studies FASEB J, January 1, 2007; 21(1): 167 - 178. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
C. Mo and M. Bard Erg28p is a key protein in the yeast sterol biosynthetic enzyme complex J. Lipid Res., September 1, 2005; 46(9): 1991 - 1998. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. Heuser Deep-etch EM reveals that the early poxvirus envelope is a single membrane bilayer stabilized by a geodetic "honeycomb" surface coat J. Cell Biol., April 25, 2005; 169(2): 269 - 283. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D Bornholdt, A Konig, R Happle, L Leveleki, M Bittar, R Danarti, A Vahlquist, W Tilgen, U Reinhold, A Poiares Baptista, et al. Mutational spectrum of NSDHL in CHILD syndrome J. Med. Genet., February 1, 2005; 42(2): e17 - e17. [Full Text] [PDF]
|
|
|
|
 |
|
 D. L. Brasaemle, G. Dolios, L. Shapiro, and R. Wang Proteomic Analysis of Proteins Associated with Lipid Droplets of Basal and Lipolytically Stimulated 3T3-L1 Adipocytes J. Biol. Chem., November 5, 2004; 279(45): 46835 - 46842. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
V. Subramanian, A. Rothenberg, C. Gomez, A. W. Cohen, A. Garcia, S. Bhattacharyya, L. Shapiro, G. Dolios, R. Wang, M. P. Lisanti, et al. Perilipin A Mediates the Reversible Binding of CGI-58 to Lipid Droplets in 3T3-L1 Adipocytes J. Biol. Chem., October 1, 2004; 279(40): 42062 - 42071. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
K. G. Soni, R. Lehner, P. Metalnikov, P. O'Donnell, M. Semache, W. Gao, K. Ashman, A. V. Pshezhetsky, and G. A. Mitchell Carboxylesterase 3 (EC 3.1.1.1) Is a Major Adipocyte Lipase J. Biol. Chem., September 24, 2004; 279(39): 40683 - 40689. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
E. Umlauf, E. Csaszar, M. Moertelmaier, G. J. Schuetz, R. G. Parton, and R. Prohaska Association of Stomatin with Lipid Bodies J. Biol. Chem., May 28, 2004; 279(22): 23699 - 23709. [Abstract] [Full Text] [PDF]
|
|