| Title |
Molecular basis for the properties of the thyroxine-binding globulin-slow variant in American Blacks
|
|---|---|
| Published in |
Journal of Endocrinological Investigation, April 2014
|
| DOI | 10.1007/bf03349576 |
| Pubmed ID | |
| Authors |
M. R. Waltz, T. N. Pullman, K. Takeda, P. Sobieszczyk, S. Refetoff |
| Abstract |
Thyroxine-binding globulin-slow (TBG-S), a variant found in 4-12% of Black and Pacific Island populations, is inherited as an X-chromosome linked trait. This variant is detected on isoelectric focusing by the characteristic cathodal shift of all its isoforms, suggesting that the difference resides in the core protein. In addition, TBG-S is slightly more thermolabile, which explains why subjects expressing TBG-S have on the average lower serum TBG, and thus reduced T4, concentrations. We now report the molecular basis for this TBG variant, deduced from sequencing the TBG-S gene of an American Black man. Sequencing of the four coding regions and all intron/exon junctions revealed a single nucleotide substitution in the codon for amino acid 171 of the mature protein. The resulting change of the codon GAC to AAC results in replacement of the normal aspartic acid by asparagine. Since the negative charge provided by the aspartic acid is lost when replaced by the neutral asparagine, this substitution seems responsible for the cathodal shift on isoelectric focusing and slower electrophoretic mobility of TBG-S. An identical nucleotide substitution was identified in an unrelated American Black man expressing TBG-S. Whether the TBG-S phenotype observed in populations from the Pacific Islands is caused by the same mutation remains to be determined. |
Mendeley readers
The data shown below were compiled from readership statistics for 2 Mendeley readers of this research output. Click here to see the associated Mendeley record.
Geographical breakdown
| Country | Count | As % |
|---|---|---|
| United States | 1 | 50% |
| Unknown | 1 | 50% |
Demographic breakdown
| Readers by professional status | Count | As % |
|---|---|---|
| Professor | 1 | 50% |
| Student > Doctoral Student | 1 | 50% |
| Readers by discipline | Count | As % |
|---|---|---|
| Biochemistry, Genetics and Molecular Biology | 1 | 50% |
| Agricultural and Biological Sciences | 1 | 50% |
Attention Score in Context
This research output has an Altmetric Attention Score of 3. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 22 September 2021.
All research outputs
#7,452,489
of 22,783,848 outputs
Outputs from Journal of Endocrinological Investigation
#335
of 1,416 outputs
Outputs of similar age
#74,838
of 228,098 outputs
Outputs of similar age from Journal of Endocrinological Investigation
#78
of 420 outputs
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