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  • 1
    ISSN: 1432-5233
    Schlagwort(e): Key words Non-insulin-dependent diabetes mellitus ; MODY ; Hepatocyte nuclear factor-1α ; Genetics ; Microsatellite polymorphism
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Medizin
    Notizen: Abstract Recently, hepatocyte nuclear factor-1α (HNF-1α, which is encoded by the TCF1 gene) mutations were reported in a subset of patients with maturity onset diabetes of the young (MODY3). We studied the contribution of TCF1 to genetic susceptibility to common non-insulin-dependent diabetes mellitus (type 2) in Japanese subjects by investigating allelic association with type 2 diabetes use of three markers. We also studied the frequency of the G191D mutation, the only mutation of TCF1 reported so far in late-onset type 2 diabetes. A total of 356 subjects were studied. There were no significant differences in allele frequency of the three markers between patients with type 2 diabetes and control subjects. A G191D mutation was not found in the subjects studied, giving a frequency of less than 0.4% in common type 2 diabetes. The lack of association of type 2 diabetes with three markers in and near TCF1 suggests that mutations in TCF1 derived from a limited number of founders are not a major cause of common type 2 diabetes even in the genetically homogeneous Japanese population. The data also indicate that the G191D mutation in TCF1 plays little, if any, role in susceptibility to common type 2 diabetes in the Japanese.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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  • 2
    ISSN: 1432-0983
    Schlagwort(e): Key words Schizophyllum commune ; Mating type ; Homeodomain
    Quelle: Springer Online Journal Archives 1860-2000
    Thema: Biologie
    Notizen: Abstract  The A-pathway of development in the basidiomycete fungus Schizophyllum commune may be activated by either of two mating-type loci, Aα and Aβ. Aα consists of two multiallelic genes, Y and Z. Y contains a putative homeodomain; Z contains a homeodomain-related region. Non-self combinations of Y and Z form heteromultimers which are thought to be transcription factors of developmental genes. To more completely understand A-regulated development it is necessary to address the issue of functional redundancy, i.e., how do two different mating loci, Aα and Aβ, both manage to regulate the same pathway. Here we report the structure of a gene with Aβ6 activity. This gene, denoted AβV6, encodes a deduced polypeptide of 640 amino-acids with a homeodomain motif. V6 also contains a 20-amino acid sequence that is conserved in Aα Y1, Y3 and Y4. Except for the homeodomain and the conserved sequence, the deduced V6 polypeptide shows no significant identity to AαY, AαZ, or other known proteins. The presence of a homeodomain suggests that V, like Y and Z, may be a regulatory protein for genes in the A-pathway. Thus while Aα and Aβ encode different proteins, the general mechanism by which Aα and Aβ components signal A-regulated development may be similar.
    Materialart: Digitale Medien
    Bibliothek Standort Signatur Band/Heft/Jahr Verfügbarkeit
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