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      Cloning and expression of the mouse pseudoautosomal steroid sulphatase gene (Sts).

      Nature genetics
      Amino Acid Sequence, Animals, Arylsulfatases, biosynthesis, chemistry, genetics, Base Sequence, Chromosome Mapping, Cloning, Molecular, Cricetinae, DNA Primers, Female, Gene Expression, Genetic Linkage, Humans, Male, Mice, Mice, Inbred C3H, Mice, Inbred Strains, Molecular Sequence Data, Polymerase Chain Reaction, Rats, Recombinant Proteins, Sequence Homology, Amino Acid, Species Specificity, Steryl-Sulfatase, X Chromosome, Y Chromosome

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          Abstract

          Steroid sulphatase (STS) is an important enzyme in steroid metabolism. The human STS gene has been cloned and mapped to Xp22.3, proximal to the pseudoautosomal region (PAR). Using quantitative differences in STS activity among various mouse strains, a segregation pattern consistent with autosomal linkage was first reported, but more recent studies have linked Sts to the mouse PAR. Failed attempts to clone the mouse Sts gene using human reagants (STS cDNA and anti-STS antibodies) suggest a substantial divergence between these genes. However, partial amino-terminal sequence from purified rat liver Sts is very similar to its human counterpart, and several domains are conserved among all the sulphatases. We followed a degenerate-primer reverse transcriptase-PCR (RT-PCR) approach to amplify a conserved fragment of the rat Sts cDNA that was then used to clone the mouse Sts cDNA. This 2.3-kb cDNA revealed 75% similarity with rat Sts cDNA, while it was only 63% similar to human STS cDNA. Transfection of STS(-) A9 cells with the mouse Sts cDNA restored STS enzymatic activity. Sts was also mapped physically to the distal end of the mouse sex chromosomes, and our backcross studies placed Sts distal to the 'obligatory' cross-over in male meiosis.

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          Gene action in the X-chromosome of the mouse (Mus musculus L.).

          MARY LYON (1961)
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            Sex Chromosomes and Sex-Linked Genes

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              A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1).

              Amelogenesis imperfecta is characterized by the defective formation of tooth enamel. Here we present evidence that the X-linked form of this disorder (AIH1) is caused by a structural alteration in one of the predominant proteins in enamel, amelogenin. Southern blot analysis revealed a deletion extending over 5 kb of the amelogenin gene in males with the hypomineralization form of the AIH1. Carrier females were heterozygous for the molecular defect. The deletion appears to include at least two exons of the amelogenin gene and the extent of the deletion was verified by PCR analysis. The mutation was shown to segregate with the disease among 15 analyzed individuals belonging to the same kindred. Our results link a defect in the amelogenin gene to the abnormal formation of enamel. We thus conclude that the amelogenin protein has a role in biomineralization of tooth enamel.
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