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      Mutations in ABCC6 cause pseudoxanthoma elasticum.

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      Journal: Nature genetics
      Keywords: ATP-Binding Cassette Transporters, chemistry, genetics, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 16, DNA Mutational Analysis, Exons, Female, Gene Expression Profiling, Genes, Dominant, Genes, Recessive, Homozygote, Humans, Male, Molecular Sequence Data, Multidrug Resistance-Associated Proteins, Mutation, Pedigree, Pseudoxanthoma Elasticum, pathology, RNA, Messenger, analysis, Sequence Deletion

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          Abstract

          Pseudoxanthoma elasticum (PXE) is a heritable disorder of the connective tissue. PXE patients frequently experience visual field loss and skin lesions, and occasionally cardiovascular complications. Histopathological findings reveal calcification of the elastic fibres and abnormalities of the collagen fibrils. Most PXE patients are sporadic, but autosomal recessive and dominant inheritance are also observed. We previously localized the PXE gene to chromosome 16p13.1 (refs 8,9) and constructed a physical map. Here we describe homozygosity mapping in five PXE families and the detection of deletions or mutations in ABCC6 (formerly MRP6) associated with all genetic forms of PXE in seven patients or families.

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          The product of the yeast UPF1 gene is required for rapid turnover of mRNAs containing a premature translational termination codon.

          M Culbertson, P Leeds, Eric Peltz … (1991)
          mRNA decay rates often increase when translation is terminated prematurely due to a frameshift or nonsense mutation. We have identified a yeast gene, UPF1, that codes for a trans-acting factor whose function is necessary for enhanced turnover of mRNAs containing a premature stop codon. In the absence of UPF1 function, frameshift or nonsense mutations in the HIS4 or LEU2 genes that normally cause rapid mRNA decay fail to have this effect. Instead, the mRNAs decay at rates similar to the corresponding wild-type mRNAs. The stabilization of frameshift or nonsense mRNAs observed in upf1- strains does not appear to result from enhanced readthrough of the termination signal. Loss of UPF1 function has no effect on the accumulation or stability of HIS4+ or LEU2+ mRNA, suggesting that the UPF1 product functions only in response to a premature termination signal. When we examined the accumulation and stability of other wild-type mRNAs in the presence or absence of UPF1, including MAT alpha 1, STE3, ACT1, PGK1, PAB1, and URA3 mRNAs, only the URA3 transcript was affected. On the basis of these and other results, the UPF1 product appears to participate in a previously uncharacterized pathway leading to the degradation of a limited class of yeast transcripts.
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            RNA surveillance. Unforeseen consequences for gene expression, inherited genetic disorders and cancer.

            Michael R. Culbertson (1999)
            Messenger RNAs are monitored for errors that arise during gene expression by a mechanism called RNA surveillance, with the result that most mRNAs that cannot be translated along their full length are rapidly degraded. This ensures that truncated proteins are seldom made, reducing the accumulation of rogue proteins that might be deleterious. The pathway leading to accelerated mRNA decay is referred to as nonsense-mediated mRNA decay (NMD). The proteins that catalyze steps in NMD in yeast serve two roles, one to monitor errors in gene expression and the other to control the abundance of endogenous wild-type mRNAs as part of the normal repertoire of gene expression. The NMD pathway has a direct impact on hundreds of genetic disorders in the human population, where about a quarter of all known mutations are predicted to trigger NMD.
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              Characterization of the human ABC superfamily: isolation and mapping of 21 new genes using the expressed sequence tags database.

              R Allikmets, Ryan A Hutchinson, Melinda M. Dean … (1996)
              As an approach to characterizing all human ATP-binding cassette (ABC) superfamily genes, a search of the human expressed sequence tag (EST) database was performed using sequences from known ABC genes. A total of 105 clones, containing sequences of potential ABC genes, were identified, representing 21 distinct genes. This brings the total number of characterized human ABC genes from 12 to 33. The new ABC genes were mapped by PCR on somatic cell and radiation hybrid panels and yeast artificial chromosomes (YACs). The genes are located on human chromosomes 1, 2, 3, 4, 6, 7, 10, 12, 13, 14, 16, 17 and X; at locations distinct from previously mapped members of the superfamily. The characterized genes display extensive diversity in sequence and expression pattern and this information was utilized to determine potential structural, functional and evolutionary relationships to previously characterized members of the ABC superfamily.
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                Author and article information

                Journal
                PubMed ID:: 10835643
                DOI:: 10.1038/76109

                ScienceOpen disciplines: Chemistry
                Keywords: ATP-Binding Cassette Transporters,chemistry,genetics,Base Sequence,Chromosome Mapping,Chromosomes, Human, Pair 16,DNA Mutational Analysis,Exons,Female,Gene Expression Profiling,Genes, Dominant,Genes, Recessive,Homozygote,Humans,Male,Molecular Sequence Data,Multidrug Resistance-Associated Proteins,Mutation,Pedigree,Pseudoxanthoma Elasticum,pathology,RNA, Messenger,analysis,Sequence Deletion
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                ScienceOpen disciplines: Chemistry
                Keywords: ATP-Binding Cassette Transporters, chemistry, genetics, Base Sequence, Chromosome Mapping, Chromosomes, Human, Pair 16, DNA Mutational Analysis, Exons, Female, Gene Expression Profiling, Genes, Dominant, Genes, Recessive, Homozygote, Humans, Male, Molecular Sequence Data, Multidrug Resistance-Associated Proteins, Mutation, Pedigree, Pseudoxanthoma Elasticum, pathology, RNA, Messenger, analysis, Sequence Deletion

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