Decreased cortisol-binding affinity of transcortin Leuven is associated with an amino acid substitution at residue-93

@article{Baelen1993DecreasedCA,
  title={Decreased cortisol-binding affinity of transcortin Leuven is associated with an amino acid substitution at residue-93},
  author={Hugo Van Baelen and Stephen G. A. Power and Geoffrey L. Hammond},
  journal={Steroids},
  year={1993},
  volume={58},
  pages={275-277}
}
Genomic DNA was isolated from two related individuals who are homozygous for transcortin Leuven, a corticosteroid-binding globulin variant with decreased cortisol-binding affinity. This material was amplified using intron-specific oligonucleotide primers in a polymerase chain reaction to obtain the four exons that encode transcortin. Sequence analysis of these exons showed several mutations within the coding sequence of both individuals, but only one of these will result in an amino acid… Expand
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It is concluded that residue 93 may play an important role in determining the structure of the CBG steroid binding site. Expand
Transcortin Leuven: a variant of human corticosteroid-binding globulin with decreased cortisol-binding affinity.
TLDR
Family studies showed that this transcortin variant, which was investigated on neuraminidase-treated plasma samples by polyacrylamide gel isoelectric focusing followed by immunofixation of transcORTin on cellulose-acetate strips, is autosomally inherited. Expand
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TLDR
Site specificity was demonstrated by full protection with cortisol against inactivation and the absence of denaturation in modified transcortin was checked by circular dichroism spectra and polyacrylamide gel electrophoresis. Expand
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The amino acid substitution identified in BB rat CBG clearly accounts for the reduction in its steroid binding affinity, and further analysis of this and other natural CBG variants may reveal important information about the CBG steroid binding site. Expand
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TLDR
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The investigation of the binding site of purified human corticosteroid-binding globulin (CBG) by the method of affinity labeling concludes that 6beta-bromoprogesterone is an affinity label for CBG and that a cysteinyl residue is present in thebinding site. Expand
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