Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II

Proc Natl Acad Sci U S A. 2006 Mar 7;103(10):3764-9. doi: 10.1073/pnas.0507685103. Epub 2006 Feb 28.

Abstract

The conserved oligomeric Golgi (COG) complex is a heterooctameric complex that regulates intraGolgi trafficking and the integrity of the Golgi compartment in eukaryotic cells. Here, we describe a patient with a mild form of congenital disorder of glycosylation type II (CDG-II) that is caused by a deficiency in the Cog1 subunit of the complex. This patient has a defect in both N- and O-glycosylation. Mass spectrometric analysis of the structures of the N-linked glycans released from glycoproteins from the patient's serum revealed a reduction in sialic acid and galactose residues. Peanut agglutinin (PNA) lectin staining revealed a decrease in sialic acids on core 1 mucin type O-glycans, indicating a combined defect in N- and O-glycosylation. Sequence analysis of the COG1 cDNA and gene identified a homozygous insertion of a single nucleotide (2659-2660insC), which is predicted to lead to a premature translation stop and truncation of the C terminus of the Cog1 protein by 80 amino acids. This mutation destabilizes several other COG subunits and alters their subcellular localization and hence the overall integrity of the COG complex. This results in reduced levels and/or altered Golgi localization of alpha-mannosidase II and beta-1,4 galactosyltransferase I, which links it to the glycosylation deficiency. Transfection of primary fibroblasts of this patient with the full length hemagglutinin-tagged Cog1 indeed restored beta-1,4 galactosyltransferase Golgi localization. We propose naming this disorder CDG-II/Cog1, or CDG-II caused by Cog1 deficiency.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Vesicular Transport
  • Base Sequence
  • Blood Proteins / chemistry
  • Carbohydrate Metabolism, Inborn Errors / genetics*
  • Carbohydrate Metabolism, Inborn Errors / metabolism*
  • Carrier Proteins / chemistry
  • Carrier Proteins / genetics*
  • DNA / genetics
  • DNA Mutational Analysis
  • Female
  • Glycoproteins / blood
  • Glycoproteins / chemistry
  • Glycosylation
  • Golgi Apparatus / metabolism*
  • Humans
  • In Vitro Techniques
  • Infant
  • Infant, Newborn
  • Membrane Proteins / chemistry
  • Membrane Proteins / deficiency*
  • Membrane Proteins / genetics*
  • Polysaccharides / chemistry
  • Protein Subunits
  • Transfection

Substances

  • Adaptor Proteins, Vesicular Transport
  • Blood Proteins
  • COG1 protein, human
  • Carrier Proteins
  • Glycoproteins
  • Membrane Proteins
  • Polysaccharides
  • Protein Subunits
  • DNA