Cited by 309Glycosylation and Glycoproteins ResearchGlycogen Storage Diseases and MyoclonusLysosomal Storage Disorders Research

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SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

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Cantagrel, Vincent, Lefeber, Dirk J., Ng, Bobby G., Guan, Ziqiang, Silhavy, Jennifer L., Bielas, Stephanie L., Lehle, Ludwig, Hombauer, Hans, Adamowicz, Maciej, Swiezewska, Ewa, De Brouwer, Arjan P., Blümel, Peter, Sykut-Cegielska, Jolanta, Houliston, Scott, Swistun, Dominika, Ali, Bassam R., Dobyns, William B., Babovic-Vuksanovic, Dusica, van Bokhoven, Hans, Wevers, Ron A., Raetz, Christian R.H., Freeze, Hudson H., Morava, Éva, Al-Gazali, Lihadh, Gleeson, Joseph G.·2010·Cell

DOI 10.1016/j.cell.2010.06.001PMC PMC2940322

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Abstract

N-linked glycosylation is the most frequent modification of secreted and membrane-bound proteins in eukaryotic cells, disruption of which is the basis of the congenital disorders of glycosylation (CDGs). We describe a new type of CDG caused by mutations in the steroid 5alpha-reductase type 3 (SRD5A3) gene. Patients have mental retardation and ophthalmologic and cerebellar defects. We found that SRD5A3 is necessary for the reduction of the alpha-isoprene unit of polyprenols to form dolichols, required for synthesis of dolichol-linked monosaccharides, and the oligosaccharide precursor used for N-glycosylation. The presence of residual dolichol in cells depleted for this enzyme suggests the existence of an unexpected alternative pathway for dolichol de novo biosynthesis. Our results thus suggest that SRD5A3 is likely to be the long-sought polyprenol reductase and reveal the genetic basis of one of the earliest steps in protein N-linked glycosylation.

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Authors: Cantagrel, V., Lefeber, D. J., Ng, B. G., Guan, Z., Silhavy, J. L., Bielas, S. L., Lehle, L., Hombauer, H., Adamowicz, M., Swiezewska, E., De Brouwer, A. P., Blümel, P., Sykut-Cegielska, J., Houliston, S., Swistun, D., Ali, B. R., Dobyns, W. B., Babovic-Vuksanovic, D., van Bokhoven, H., Wevers, R. A., Raetz, C. R. H., Freeze, H. H., Morava, É., Al-Gazali, L., & Gleeson, J. G.
Affiliations: Howard Hughes Medical Institute (US)
Radboud University Medical Center (NL)
Sanford Burnham Prebys Medical Discovery Institute (US)
Duke Medical Center (US)
University of Regensburg (DE)
University of California San Diego (US)
Children's Memorial Health Institute (PL)
United Arab Emirates University (AE)
University of Chicago (US)
Corresponding author: Gleeson, Joseph G.
ORCID: Cantagrel, Vincent
Lefeber, Dirk J.
Ng, Bobby G.
Guan, Ziqiang
Bielas, Stephanie L.
Hombauer, Hans
Houliston, Scott
Ali, Bassam R.
Dobyns, William B.
Wevers, Ron A.
Freeze, Hudson H.
Morava, Éva
Gleeson, Joseph G.
Venue: Cell
Publisher: Elsevier BV
Published: 2010-07
Volume: 142
Issue: 2
Pages: 203-217
ISSN: 0092-8674 (ISSN-L)
DOI: 10.1016/j.cell.2010.06.001
PMC: PMC2940322
OpenAlex: W2126181351
Cited by: 309
References: 65
Citations by year: 2026: 11 · 2025: 10 · 2024: 16 · 2023: 16 · 2022: 12 · 2021: 22 · 2020: 26 · 2019: 13 · 2018: 19 · 2017: 18 · 2016: 14 · 2015: 17 · 2014: 22 · 2013: 18 · 2012: 30
FWCI: 11.99
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 1148 d)
Locations: Cell (publishedVersion)
PubMed (publishedVersion)
PubMed Central (acceptedVersion)
HAL (submittedVersion, other-oa)
University of Regensburg Publication Server (University of Regensburg) (submittedVersion)
Radboud Repository (Radboud University) (submittedVersion)
Funders: Howard Hughes Medical Institute
Mayo Clinic
Stichting Metakids
Deutsche Forschungsgemeinschaft
National Institutes of Health (HEK293T, GM-069338, NS047101)
University of California, San Francisco
National Institute of General Medical Sciences (U54GM069338)
National Institute of Diabetes and Digestive and Kidney Diseases (R24DK080506, R01DK-55615, DK-80506, R01DK055615)
National Institute of Neurological Disorders and Stroke (R01NS048453, R01NS052455, P30NS047101)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Glycosylation and Glycoproteins Research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Biochemistry › Glycogen Storage Diseases and Myoclonus
Health Sciences › Medicine › Genetics (clinical) › Lysosomal Storage Disorders Research
Keywords: SRD5A3, congenital disorders of glycosylation, N-glycosylation, polyprenols, dolichol biosynthesis, intellectual disability
MeSH terms: Abnormalities, Multiple, Animals, Butadienes, Consanguinity, Dolichols, Embryo, Mammalian, Glycosylation, Humans, Membrane Proteins, Intellectual Disability, Mutation, Pentanes, Saccharomyces cerevisiae, 3-Oxo-5-alpha-Steroid 4-Dehydrogenase, Saccharomyces cerevisiae Proteins, Hemiterpenes, Mice, Genome-Wide Association Study, Unfolded Protein Response

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SRD5A3 Is Required for Converting Polyprenol to Dolichol and Is Mutated in a Congenital Glycosylation Disorder

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