ArticleJournal of medical genetics2006
Polymorphisms in the xylosyltransferase genes cause higher serum XT-I activity in patients with pseudoxanthoma elasticum (PXE) and are involved in a severe disease course.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 54 citations in OpenAlex.
- Molecular Genetics and Modifier Genes in Pseudoxanthoma Elasticum, a Heritable Multisystem Ectopic Mineralization Disorder.The Journal of investigative dermatology · 2021Review
- Mutation spectrum in the ABCC6 gene and genotype-phenotype correlations in a French cohort with pseudoxanthoma elasticum.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Forward genetics defines Xylt1 as a key, conserved regulator of early chondrocyte maturation and skeletal length.Developmental biology · 2014Article
- First identification and functional analysis of the human xylosyltransferase II promoter.Glycoconjugate journal · 2013Article
- A single-nucleotide polymorphism in the Abcc6 gene associates with connective tissue mineralization in mice similar to targeted models for pseudoxanthoma elasticum.The Journal of investigative dermatology · 2013Article
- New insights into the pathogenesis of pseudoxanthoma elasticum and related soft tissue calcification disorders by identifying genetic interactions and modifiers.Frontiers in genetics · 2013Article
- The vascular phenotype in Pseudoxanthoma elasticum and related disorders: contribution of a genetic disease to the understanding of vascular calcification.Frontiers in genetics · 2013Article
- Fibroblast involvement in soft connective tissue calcification.Frontiers in genetics · 2013Article
- Mutations in fam20b and xylt1 reveal that cartilage matrix controls timing of endochondral ossification by inhibiting chondrocyte maturation.PLoS genetics · 2011Article
- ABCC6 as a target in pseudoxanthoma elasticum.Current drug targets · 2011Review
- In silico functional profiling of human disease-associated and polymorphic amino acid substitutions.Human mutation · 2010Article
- Pseudoxanthoma elasticum: molecular genetics and putative pathomechanisms.The Journal of investigative dermatology · 2010Article
- The mineralization phenotype in Abcc6 ( -/- ) mice is affected by Ggcx gene deficiency and genetic background--a model for pseudoxanthoma elasticum.Journal of molecular medicine (Berlin, Germany) · 2010Article
- Modifier genes in pseudoxanthoma elasticum: novel insights from the Ggcx mouse model.Journal of molecular medicine (Berlin, Germany) · 2010Article
- Magnesium carbonate-containing phosphate binder prevents connective tissue mineralization in Abcc6(-/-) mice-potential for treatment of pseudoxanthoma elasticum.Clinical and translational science · 2009Article
- Xylosyltransferase II is a significant contributor of circulating xylosyltransferase levels and platelets constitute an important source of xylosyltransferase in serum.Glycobiology · 2009Article
- Elevated dietary magnesium prevents connective tissue mineralization in a mouse model of pseudoxanthoma elasticum (Abcc6(-/-)).The Journal of investigative dermatology · 2009Article
- Ectopic mineralization of connective tissue in Abcc6-/- mice: effects of dietary modifications and a phosphate binder--a preliminary study.Experimental dermatology · 2008Article
- XT-II, the second isoform of human peptide-O-xylosyltransferase, displays enzymatic activity.The Journal of biological chemistry · 2007Article
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Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPseudoxanthoma elasticum (PXE) is a heritable connective tissue disorder caused by mutations in the ABCC6 gene. Fragmentation of elastic fibres and deposition of proteoglycans result in a highly variable clinical picture. The altered proteoglycan metabolism suggests that enzymes from this pathway function as genetic co-factors in the severity of PXE. Therefore, we propose the XYLT genes encoding xylosyltransferase I (XT-I) as the chain-initiating enzyme in the biosynthesis of proteoglycans and the highly homologous XT-II as potential candidate genes.
methodsWe screened all XYLT exons in 65 German PXE patients using denaturing high performance liquid chromatography and analysed the influence of the variations on clinical characteristics.
resultsWe identified 22 variations in the XYLT genes. The missense variation p.A115S (XT-I) is associated with higher serum XT activity (p = 0.005). The amino acid substitution p.T801R (XT-II; c.2402C>G) occurs with significantly higher frequency in patients under 30 years of age at diagnosis (43% v 26%; p = 0.04); all PXE patients with this variation suffer from skin lesions compared to only 75% of the wild type patients (p = 0.002). c.166G>A, c.1569C>T, and c.2402C>G in the XYLT-II gene were found to be more frequent in patients with higher organ involvement (p = 0.04, p = 0.01, and p = 0.02, respectively).
conclusionsHere we show for the first time that variations in the XYLT-II gene are genetic co-factors in the severity of PXE. Furthermore, the higher XT activity in patients with the exchange p.A115S (XT-I) indicates that this polymorphism is a potential marker for increased remodelling of the extracellular matrix.
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