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Cited by 30Glycosylation and Glycoproteins ResearchGlycogen Storage Diseases and MyoclonusLysosomal Storage Disorders Research

A pseudoautosomal glycosylation disorder prompts the revision of dolichol biosynthesis

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Wilson, Matthew P., Kentache, Takfarinas, Althoff, Charlotte R., Schulz, Céline, de Bettignies, Geoffroy, Mateu Cabrera, Gisèle, Cimbalistiene, Loreta, Burnyte, Birute +16 more·2024·Cell
DOI 10.1016/j.cell.2024.04.041PMC PMC11250103
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Abstract

Dolichol is a lipid critical for N-glycosylation as a carrier for activated sugars and nascent oligosaccharides. It is commonly thought to be directly produced from polyprenol by the enzyme SRD5A3. Instead, we found that dolichol synthesis requires a three-step detour involving additional metabolites, where SRD5A3 catalyzes only the second reaction. The first and third steps are performed by DHRSX, whose gene resides on the pseudoautosomal regions of the X and Y chromosomes. Accordingly, we report a pseudoautosomal-recessive disease presenting as a congenital disorder of glycosylation in patients with missense variants in DHRSX (DHRSX-CDG). Of note, DHRSX has a unique dual substrate and cofactor specificity, allowing it to act as a NAD + -dependent dehydrogenase and as a NADPH-dependent reductase in two non-consecutive steps. Thus, our work reveals unexpected complexity in the terminal steps of dolichol biosynthesis. Furthermore, we provide insights into the mechanism by which dolichol metabolism defects contribute to disease.

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Authors
Wilson, M. P., Kentache, T., Althoff, C. R., Schulz, C., de Bettignies, G., Mateu Cabrera, G., Cimbalistiene, L., Burnyte, B., Yoon, G., Costain, G., Vuillaumier-Barrot, S., Cheillan, D., Rymen, D., Rychtarova, L., Hansikova, H., Bury, M., Dewulf, J. P., Caligiore, F., Jaeken, J., Cantagrel, V., Van Schaftingen, E., Matthijs, G., Foulquier, F., & Bommer, G. T.
Affiliations
  • KU Leuven (BE)
  • de Duve Institute (BE)
  • Centre National de la Recherche Scientifique (FR)
  • University of Toronto (CA)
  • Lyon 1 Université (FR)
  • Universitair Ziekenhuis Leuven (BE)
  • Inserm (FR)
Corresponding author
  • Matthijs, Gert
  • Foulquier, François
  • Bommer, Guido T.
ORCID
Venue
Cell
Publisher
Elsevier BV
Published
2024-07
Volume
187
Issue
14
Pages
3585-3601.e22
ISSN
0092-8674 (ISSN-L)
DOI
10.1016/j.cell.2024.04.041
PMC
PMC11250103
OpenAlex
W4399173681
Cited by
30
References
5
Citations by year
2026: 12 · 2025: 14 · 2024: 4
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3.88
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journal article
Language
en
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erratum (2024-07-11)
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  • Digital Access to Libraries (Université catholique de Louvain (UCL), l'Université de Namur (UNamur) and the Université Saint-Louis (USL-B)) (submittedVersion, other-oa)
  • LillOA (Université de Lille (University Of Lille)) (submittedVersion, cc-by-nc-nd)
  • Lirias (KU Leuven) (submittedVersion, cc-by-nc-nd)
Funders
  • Mizutani Foundation for Glycoscience (240097, 210119, 3M200250, CELSA/21/027)
  • KU Leuven (G.M. 3M200250)
  • Fonds De La Recherche Scientifique - FNRS (ARC17/22-079, UN06220F)
  • Centre National de la Recherche Scientifique
  • Sickkids Research Institute
  • European Resuscitation Council
  • Marie Curie
  • McLaughlin Centre, University of Toronto
  • European Research Council (771704)
  • FWO (1289023N, G061524N)
  • Fondation Médicale Reine Elisabeth
  • Fonds Baillet Latour
  • Horizon 2020 Framework Programme (894669, MSCA-IF-2019)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Glycosylation and Glycoproteins Research
  • Health Sciences › Medicine › Rheumatology › Glycogen Storage Diseases and Myoclonus
  • Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
Keywords
dolichol biosynthesis, SRD5A3, pseudoautosomal region, congenital disorders of glycosylation, N-glycosylation, polyprenols, NAD-dependent dehydrogenase, NADPH-dependent reductase, dual substrate specificity, cofactor specificity, missense mutations, X and Y chromosomes
MeSH terms
Dolichols, Female, Glycosylation, Humans, Male, Membrane Proteins, 3-Oxo-5-alpha-Steroid 4-Dehydrogenase, Congenital Disorders of Glycosylation, Mutation, Missense

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

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