title: Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12.
abstract: BACKGROUND
  The location of a second genetic locus for autosomal dominant medullary cystic kidney disease (ADMCKD) at chromosome 16p12 led us to further investigate the molecular analysis of the critical region where two genes coding for uromodulin and SA proteins with renal specific functions, UMOD and SAH, are localized.
  
  
  METHODS
  We characterized the intron-exon boundary sequences by screening phage and BAC DNA genomic clones for the development of new molecular tools functional to the mutation analysis of UMOD and SAH genes.
  
  
  RESULTS
  No consistent mutations for ADMCKD2 were found in the UMOD and SAH genes. We identified a silent polymorphism in the UMOD gene at codon C174 which co-segregates with the disease in the ADMCKD2 family.
  
  
  CONCLUSIONS
  This study excludes the involvement of uromodulin and SAH genes in ADMCKD2, and provides new tools for their molecular analysis in other diseases.
authors.affiliation: Reproduction and Development Department, University of Trieste, Italy.
authors.forename: D
authors.initials: D
authors.lastname: Pirulli
authors.forename: D
authors.initials: D
authors.lastname: Puzzer
authors.forename: M
authors.initials: M
authors.lastname: De Fusco
authors.forename: S
authors.initials: S
authors.lastname: Crovella
authors.forename: A
authors.initials: A
authors.lastname: Amoroso
authors.forename: F
authors.initials: F
authors.lastname: Scolari
authors.forename: B F
authors.initials: BF
authors.lastname: Viola
authors.forename: R
authors.initials: R
authors.lastname: Maiorca
authors.forename: G
authors.initials: G
authors.lastname: Caridi
authors.forename: S
authors.initials: S
authors.lastname: Savoldi
authors.forename: G
authors.initials: G
authors.lastname: Ghiggeri
authors.forename: G
authors.initials: G
authors.lastname: Casari
mesh_terms: D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D003062:Codon / Q000235:genetics; D003066:Coenzyme A Ligases; D005091:Exons / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D009088:Mucoproteins / Q000235:genetics*; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*; D017422:Sequence Analysis, DNA / Q000379:methods; D058949:Uromodulin
chemical_list: D003062:Codon; D009088:Mucoproteins; D011506:Proteins; C548612:UMOD protein, human; C548614:Umod protein, rat; D058949:Uromodulin; C081817:Acsm3 protein, rat; D003066:Coenzyme A Ligases