Human parathyroid hormone gene (PTH) is on short arm of chromosome 11

Naylor, Susan L.; Sakaguchi, Alan Y.; Szoka, Paula; Hendy, G.N.; Kronenberg, Henry M.; Rich, Alexander; Shows, Thomas B.

doi:10.1007/bf01574261

Cited by 91 publications

(19 citation statements)

References 31 publications

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“…Venous blood was obtained, after informed consent, from 60 family members; 5 were affected males, 11 were carrier females, and 44 were unaffected (26 males, 18 females). Of the 60 members, 50 (4 affected, 7 carriers, and 39 unaffected) were from four generations of kindred W/81 and 10 (1 affected, 4 carriers, and 5 unaffected) were from three generations of kindred P/60.…”

Section: Methodsmentioning

confidence: 99%

“…1). 7 ofthese probes (782, D2, 99.6, C7, 754, pOTC, and L1.28) were from the short arm and 10 others (pDp34, 30RIb, pX45h, 52A, FIX [Factor IX], CX55.7, 4D.8, Mnl2, Stl4, and DX 13) were from the long arm ofthe X chromosome. These polymorphic probes define the loci DXS85, DXS43, DXS41, DXS28, DXS84, OTC, DXS7, DXYS1, DXS37, DXS100, DXS51, F9, DXS105, DXS98, DXS33, DXS52, and DXS15, respectively (Fig.…”

Section: Methodsmentioning

confidence: 99%

“…The investigation of the genetic defects in these hereditary disorders of isolated PTH deficiency has been facilitated by the recent advances in mo-lecular biology. Human PTH, which is an 84 amino acid polypeptide (6), is encoded by a single gene located on the short arm of chromosome 11 (7). It has been postulated that mutations either within or near the PTH gene, or at other loci, which affect the embryological development, cell structure, or regulation of the parathyroids, may cause this reduction in parathyroid gland activity (8).…”

Section: Introductionmentioning

confidence: 99%

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Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies.

Thakker¹,

Davies²,

Whyte³

et al. 1990

J. Clin. Invest.

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Idiopathic hypoparathyroidism has been reported to occur as an X-linked recessive disorder in two multigeneration kindreds. Affected individuals, who are males, suffer from infantile onset of epilepsy and hypocalcemia, which appears to be due to an isolated congenital defect of parathyroid gland development; females are not affected and are normocalcemic. We have performed linkage studies in these two kindreds (5 affected males, 11 obligate carrier females, and 44 unaffected members) and have used cloned human X chromosome sequences identifying restriction fragment length polymorphisms to localize the mutant gene causing this disorder. Our studies established linkage between the X-linked recessive idiopathic hypoparathyroid gene (HPI) and the DXS98 (4D.8) locus, peak LOD score = 3.82 (0 = 0.05) thereby mapping HPT to the distal long arm of the X chromosome (Xq26-Xq27). Multilocus analysis indicated that HPT is proximal to the DXS98 (4D.8) locus but distal to the F9 (Factor IX) locus, thereby revealing bridging markers for the disease. The results of this study will improve genetic counseling of affected families, and further characterization of this gene locus will open the way for elucidating the factors controlling the development and activity of the parathyroid glands. (J. Clin. Invest. 1990. 86:40-45.)

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Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies.

Thakker¹,

Davies²,

Whyte³

et al. 1990

J. Clin. Invest.

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“…The PTH gene is located on the short arm of chromosome 11 [2]. PTH is synthesized as a large polypeptide (pre-pro PTH) containing 115 amino acids that undergoes two successive proteolytic cleavages to yield the 84 amino-acids PTH, the main form of the hormone stored in and secreted from the parathyroid glands.…”

Section: Pth Secretion and Actionmentioning

confidence: 99%

Considerations in parathyroid hormone testing

Cavalier

Plebani

Delanaye

et al. 2015

Clinical Chemistry and Laboratory Medicine (CCLM)

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Parathyroid hormone (PTH) is a major player in phosphocalcic metabolism and its measurement is very important for the correct diagnosis and treatment of several diseases. PTH determination represents the paradigm of quality in laboratory medicine as many variables in the pre-, intra-, and post-analytical phases strongly affect the value of the clinical information. Analytical determination of PTH has been rendered difficult by the presence, in the circulation, of truncated fragments that can crossreact with the antibodies used for its determination. In addition, pre-analytical phase is complicated by the lack of stability of the peptide and the best sample to use for its determination remains controversial, as well as sample handling and storage. PTH secretion is also affected by circadian and seasonal rhythms and by physical exercise. Finally, from the post-analytical perspective, establishment of reliable reference ranges requires further efforts as the selection criteria for reference subjects should take into consideration new variables such as gender, race and vitamin D levels. Finally, clinical guidelines have recently revised and improved the criteria for a correct interpretation of PTH values.

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“…Several genes such as the human 83-globin gene cluster (HBBC), the parathyroid hormone (PTH) gene, the oncogene HRASI (formerly termed c-Ha-ras-1), and the insulin gene have been assigned to the short arm of chromosome 11 (1)(2)(3)(4)(5). By using DNA polymorphisms for linkage analysis, it has been shown that PTH, HBBC, HRASI, and the insulin gene are closely linked to each other (6,7).…”

mentioning

confidence: 99%

Linkage map of the short arm of human chromosome 11: location of the genes for catalase, calcitonin, and insulin-like growth factor II.

Kittur

Höppener

Antonarakis

et al. 1985

Proc. Natl. Acad. Sci. U.S.A.

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The following order of genes on the short arm of human chromosome 11 (lip) was determined previously: parathyrold hormone (PTH)-the ,3-globin gene cluster (HBBC-HRASl/insulin. Although it is generally agreed that HRASI (formerly termed c-Ha-ras-1) and the insulin gene are close to each other [14 centimorgans (cM)], their order on chromosome 11p is still in question. We have now added three other genes, those for catalase, calcitonin, and insulin-like growth factor II (IGF-H), to this map of chromosome lip by use of restriction site polymorphisms adjacent to these genes in classical linkage analysis. Most importantly, we find no evidence of linkage between the catalase and HBBC loci. In addition, our data indicate that the calcitonin gene is located between the catalase gene and the PTH gene. Our best estimate of the distance between the catalase and calcitonin genes is -16 cM, while that between the calcitonin and PTH genes is =8 cM. In agreement, very loose linkage was found between the catalase and PTH loci (%26 cM). Since the catalase locus has been mapped to lipl3, these data support the view that the PTH, HBBC, HRASI, and insulin loci are located on the distal short arm of chromosome 11. The IGF-II gene is tightly linked to both the HRASI oncogene and the insulin gene since no recombinants were observed between the IGF-II and the HRASI/insulin loci. Thus, based on our linkage analysis we propose that the most likely gene order for the short arm of chromosome 11 is centromere-catalase-calcitonin-PTH-HBBC-HRASI/insulin-telomere and that the IGF-II gene is very close to both the HRASI and the insulin genes.

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Human parathyroid hormone gene (PTH) is on short arm of chromosome 11

Cited by 91 publications

References 31 publications

Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies.

Mapping the gene causing X-linked recessive idiopathic hypoparathyroidism to Xq26-Xq27 by linkage studies.

Considerations in parathyroid hormone testing

Linkage map of the short arm of human chromosome 11: location of the genes for catalase, calcitonin, and insulin-like growth factor II.

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