title: Exon resequencing of the gene encoding UCma/GRP reveals a common carboxy-terminal 138Thr > Ser polymorphism.
abstract: BACKGROUND
  The upper zone of growth plate and cartilage matrix-associated protein (UCMA), also called G1a-rich protein (GRP), is a novel protein found at sites affected by pathological calcifications.
  
  
  METHODS
  We performed a full exon resequencing on DNA samples from 17 chronic kidney disease (CKD) patients (stage 5) and compared the results with 121 healthy controls in a Swedish population.
  
  
  RESULTS
  A novel non-synonymous single nucleotide polymorphism (SNP) causing a carboxy-terminal amino acid exchange was found. This SNP involves an alteration of the last ACC codon for threonine in exon 5 (adjacent to the stop codon) to an AGC serine codon (138Thr > Ser). Six controls and two CKD patients were heterozygous for the 138Thr > Ser polymorphism. Both patients had histories of vascular calcification; however, it is uncertain whether this SNP has any significance for the functional domains of the UCMA protein. In addition, a heterozygous transversion mutation was found in a patient at SNP rs4750328 (A/G) in intron 2, involving an exchange of the ancestral A allele to a T base.
  
  
  CONCLUSIONS
  The 138Thr > Ser polymorphism seems to be the only non-synonymous SNP found in the UCMA gene in a Swedish population.
authors.affiliation: Division of Clinical Chemistry, Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, SE-581 85 Linköping, Sweden. majid.osman@lio.se
authors.forename: Abdimajid
authors.initials: A
authors.lastname: Osman
authors.affiliation: Department of Nephrology, County Council of Ostergötland, Linköping University, SE-581 85 Linköping, Sweden.
authors.forename: Fredrik
authors.initials: F
authors.lastname: Uhlin
authors.affiliation: Division of Clinical Chemistry, Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, SE-581 85 Linköping, Sweden.
authors.forename: Ebba
authors.initials: E
authors.lastname: Frånlund
authors.affiliation: Department of Nephrology, County Council of Ostergötland, Linköping University, SE-581 85 Linköping, Sweden.
authors.forename: Anders
authors.initials: A
authors.lastname: Fernström
authors.affiliation: Division of Clinical Chemistry, Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, SE-581 85 Linköping, Sweden.
authors.forename: Per
authors.initials: P
authors.lastname: Magnusson
mesh_terms: D001483:Base Sequence; D016022:Case-Control Studies; D017931:DNA Primers; D005091:Exons; D006801:Humans; D036341:Intercellular Signaling Peptides and Proteins; D047908:Intracellular Signaling Peptides and Proteins; D007676:Kidney Failure, Chronic / Q000235:genetics; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011506:Proteins / Q000235:genetics*; D012694:Serine / Q000235:genetics*; D013548:Sweden; D013912:Threonine / Q000235:genetics*
chemical_list: D017931:DNA Primers; D036341:Intercellular Signaling Peptides and Proteins; D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; C528959:Ucma protein, human; D013912:Threonine; D012694:Serine