Assignment of the gene for the beta subunit of thyroid-stimulating hormone to the short arm of human chromosome 1.

Dracopoli, Nicholas C.; Rettig, Wolfgang; Whitfield, G. Kerr; Darlington, Gretchen J.; Spengler, Barbara A.; Biedler, June L.; Old, Lloyd J.; Kourides, Ione A.

doi:10.1073/pnas.83.6.1822

Cited by 45 publications

(18 citation statements)

References 45 publications

(46 reference statements)

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“…The common human ␣-subunit and TSH ␤-subunit are encoded by genes located on chromosomes 6 and 1, respectively (42). The organization of the human ␣-subunit and TSH ␤-subunit genes is shown in Figure 1.…”

Section: A Tsh Subunit Genesmentioning

confidence: 99%

Thyroid-Stimulating Hormone and Thyroid-Stimulating Hormone Receptor Structure-Function Relationships

Szkudlinski

Frémont²,

Ronin³

et al. 2002

Physiological Reviews

398

256

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This review focuses on recent advances in the structure-function relationships of thyroid-stimulating hormone (TSH) and its receptor. TSH is a member of the glycoprotein hormone family constituting a subset of the cystine-knot growth factor superfamily. TSH is produced by the pituitary thyrotrophs and released to the circulation in a pulsatile manner. It stimulates thyroid functions using specific membrane TSH receptor (TSHR) that belongs to the superfamily of G protein-coupled receptors (GPCRs). New insights into the structure-function relationships of TSH permitted better understanding of the role of specific protein and carbohydrate domains in the synthesis, bioactivity, and clearance of this hormone. Recent progress in studies on TSHR as well as studies on the other GPCRs provided new clues regarding the molecular mechanisms of receptor activation. Such advances are a result of extensive site-directed mutagenesis, peptide and antibody approaches, detailed sequence analyses, and molecular modeling as well as studies on naturally occurring gain- and loss-of-function mutations. This review integrates expanding information on TSH and TSHR structure-function relationships and summarizes current concepts on ligand-dependent and -independent TSHR activation. Special emphasis has been placed on TSH domains involved in receptor recognition, constitutive activity of TSHR, new insights into the evolution of TSH bioactivity, and the development of high-affinity TSH analogs. Such structural, physiological, pathophysiological, evolutionary, and therapeutic implications of TSH-TSHR structure-function studies are frequently discussed in relation to concomitant progress made in studies on gonadotropins and their receptors.

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Section: A Tsh Subunit Genesmentioning

confidence: 99%

Thyroid-Stimulating Hormone and Thyroid-Stimulating Hormone Receptor Structure-Function Relationships

Szkudlinski

Frémont²,

Ronin³

et al. 2002

Physiological Reviews

398

256

View full text Add to dashboard Cite

show abstract

“…The TSH β-subunit is encoded by the TSH β-subunit gene located in the short arm of chromosome 1 (1p13) and is consisting of three exons, the first one being non coding [12]. Mutations in this gene cause isolated CH-C, an autosomal recessive disorder, first reported as a distinct clinical entity in 1971 by Miyai et al [13].…”

Section: Central Hypothyroidism In the Context Of Multiple Pituitary mentioning

confidence: 99%

Genetically Determined Central Hypothyroidism

Voutetakis¹,

Settas²,

Dacou-Voutetakis³

2013

J Genet Syndr Gene Ther

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“…Thyroid-related abnormalities are not typical of chromosome 6p deletion syndromes that involve the region 6p24-pter (42). The CGA gene that encodes the alpha chain subunit common to TSH, gonadotrophin, luteinizing hormone, and follicle-stimulating hormone occurs on the long arm of chromosome 6 (6q12-q21) (43)(44)(45).…”

Section: Thyroid Levels In C282y Homozygotesmentioning

confidence: 99%

Thyroid-Stimulating Hormone and Free Thyroxine Levels in Persons with HFE C282Y Homozygosity, a Common Hemochromatosis Genotype: The HEIRS Study

Barton¹,

Leiendecker–Foster

Reboussin

et al. 2008

Thyroid

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for the Hemochromatosis and Iron Overload Screening Study Research InvestigatorsBackground: Relationships of thyroid and iron measures in large cohorts are unreported. We evaluated thyroidstimulating hormone (TSH) and free thyroxine (T4) in white participants of the primary care-based Hemochromatosis and Iron Overload Screening (HEIRS) Study. Methods: We measured serum TSH and free T4 in 176 HFE C282Y homozygotes without previous hemochromatosis diagnoses and in 312 controls without HFE C282Y or H63D who had normal serum iron measures and were matched to C282Y homozygotes for Field Center, age group, and initial screening date. We defined hypothyroidism as having TSH >5.00 mIU=L and free T4 <0.70 ng=dL, and hyperthyroidism as having TSH <0.400 mIU=L and free T4 >1.85 ng=dL. Multivariate analyses were performed using age, sex, Field Center, log 10 serum ferritin (SF), HFE genotype, log 10 TSH, and log 10 free T4. Results: Prevalences of hypothyroidism in C282Y homozygotes and controls were 1.7% and 1.3%, respectively, and of hyperthyroidism 0% and 1.0%, respectively. Corresponding prevalences did not differ significantly. Correlations of log 10 SF with log 10 free T4 were positive ( p ¼ 0.2368, C282Y homozygotes; p ¼ 0.0492, controls). Independent predictors of log 10 free T4 were log 10 TSH (negative association) and age (positive association); positive predictors of log 10 SF were age, male sex, and C282Y homozygosity. Proportions of C282Y homozygotes and controls who took medications to supplement or suppress thyroid function did not differ significantly. Conclusions: Prevalences of hypothyroidism and hyperthyroidism are similar in C282Y homozygotes without previous hemochromatosis diagnoses and controls. In controls, there is a significant positive association of SF with free T4. We conclude that there is no rationale for routine measurement of TSH or free T4 levels in hemochromatosis or iron overload screening programs.

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Assignment of the gene for the beta subunit of thyroid-stimulating hormone to the short arm of human chromosome 1.

Cited by 45 publications

References 45 publications

Thyroid-Stimulating Hormone and Thyroid-Stimulating Hormone Receptor Structure-Function Relationships

Thyroid-Stimulating Hormone and Thyroid-Stimulating Hormone Receptor Structure-Function Relationships

Genetically Determined Central Hypothyroidism

Thyroid-Stimulating Hormone and Free Thyroxine Levels in Persons with HFE C282Y Homozygosity, a Common Hemochromatosis Genotype: The HEIRS Study

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