Mutational analysis of the PTH 3′-untranslated region in parathyroid disorders

Clinical Endocrinology

Volumn 65, Issue 6, 2006, Pages 806-809

  Costa Guda, Jessica ^a   Lauter, Kelly ^a   Naveh Many, Tally ^b   Silver, Justin ^b   Arnold, Andrew ^a,c  

^a UNIVERSITY OF CONNECTICUT SCHOOL OF MEDICINE   (United States)

^b HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^c UNIVERSITY OF CONNECTICUT HEALTH CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PARATHYROID HORMONE;

3' UNTRANSLATED REGION; ARTICLE; DNA SEQUENCE; GENE MUTATION; GENE SEQUENCE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPOPARATHYROIDISM; LEUKOCYTE; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PARATHYROID ADENOMA; PARATHYROID DISEASE; PARATHYROID GLAND; PARATHYROID HYPERPLASIA; PATHOGENESIS; PRIORITY JOURNAL;

3' UNTRANSLATED REGIONS; ADENOMA; DNA MUTATIONAL ANALYSIS; HUMANS; HYPERPLASIA; HYPOPARATHYROIDISM; PARATHYROID DISEASES; PARATHYROID GLANDS; PARATHYROID HORMONE; PARATHYROID NEOPLASMS;

EID: 33751091225     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2006.02670.x     Document Type: Article

References (21)

1. Gehring, N.H., Frede, U., Neu-Yilik, G., Hundsdoerfer, P., Vetter, B., Hentze, M.W. & Kulozik, A.E. (2001) Increased efficiency of mRNA-3′ end formation: a new genetic mechanism contributing to hereditary thrombophilia. Nature Genetics, 28, 389-392.
2. Girelli, D., Corrocher, R., Bisceglia, L., Olivieri, O., Zelante, L., Panozzo, G. & Gasparini, P. (1997) Hereditary hyperferritinemia-cataract syndrome caused by a 29-base pair deletion in the iron responsive element of ferritin L-subunit gene. Blood, 90, 2084-2088.
3. Warren, S.T. & Nelson, D.L. (1994) Advances in molecular analysis of fragile X syndrome. Journal of the American Medical Association, 271, 536-542.
4. Arnold, A. (2001) Molecular basis of primary hyperparathyroidism. In: J.P. Bilezikian ed. The Parathyroids, 2nd edition. Academic Press, San Diego, 331-347.
5. Nussbaum, S.R., Gaz, R.D. & Arnold, A. (1990) Hypercalcemia and ectopic secretion of parathyroid hormone by an ovarian carcinoma with rearrangement of the gene for parathyroid hormone. New England Journal of Medicine, 323, 1324-1328.
6. Arnold, A., Horst, S.A., Gardella, T.J., Baba, H., Levine, M.A. & Kronenberg, H.M. (1990) Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism. Journal of Clinical Investigation, 86, 1084-1087.
7. Sunthornthepvarakul, T., Churesigaew, S. & Ngowngarmratana, S. (1999) A novel mutation of the signal peptide of the preproparathyroid hormone gene associated with autosomal recessive familial isolated hypoparathyroidism. Journal of Clinical Endocrinology and Metabolism, 84, 3792-3796.
8. Parkinson, D.B. & Thakker, R.V. (1992) A donor splice site mutation in the parathyroid hormone gene is associated with autosomal recessive hypoparathyroidism. Nature Genetics, 1, 149-152.
9. Naveh-Many, T., Bell, O., Silver, J. & Kilav, R. (2002) Cis and trans acting factors in the regulation of parathyroid hormone (PTH) mRNA stability by calcium and phosphate. FEBS Letters, 529, 60-64.
10. Kilav, R., Bell, O., Le, S.Y., Silver, J. & Naveh-Many, T. (2004) The parathyroid hormone mRNA-3′-untranslated region AU-rich element is an unstructured functional element. Journal of Biological Chemistry, 279, 2109-2116.
11. Kilav, R., Silver, J. & Naveh-Many, T. (2001) A conserved cis-acting element in the parathyroid hormone 3′-untranslated region is sufficient for regulation of RNA stability by calcium and phosphate. Journal of Biological Chemistry, 276, 8727-8733.
12. Bell, O., Silver, J. & Naveh-Many, T. (2005) Identification and characterization of cis-acting elements in the human and bovine PTH mRNA-3′-untranslated region. Journal of Bone and Mineral Research, 20, 858-866.
13. Bell, O., Gaberman, E., Kilav, R., Levi, R., Cox, K.B., Molkentin, J.D., Silver, J. & Naveh-Many, T. (2005) The protein phosphatase calcineurin determines basal parathyroid hormone gene expression. Molecular Endocrinology, 19, 516-526.
14. Dinur, M., Kilav, R., Sela-Brown, A., Jacquemin-Sablon, H. & Naveh-Many, T. (2006) In vitro evidence that upstream of N-ras participates in the regulation of parathyroid hormone messenger ribonucleic acid stability. Molecular Endocrinology, 20, 1652-1660.
15. Arnold, A., Brown, M.F., Urena, P., Gaz, R.D., Sarfati, E. & Drueke, T.B. (1995) Monoclonality of parathyroid tumors in chronic renal failure and in primary parathyroid hyperplasia. Journal of Clinical Investigation, 95, 2047-2053.
16. Imanishi, Y., Tahara, H., Palanisamy, N., Spitalny, S., Salusky, I.B., Goodman, W., Brandi, M.L., Drueke, T.B., Sarfati, E., Urena, P., Chaganti, R.S. & Arnold, A. (2002) Clonal chromosomal defects in the molecular pathogenesis of refractory hyperparathyroidism of uremia. Journal of the American Society of Nephrology, 13, 1490-1498.
17. Marx, S.J. (2000) Hyperparathyroid and hypoparathyroid disorders. New England Journal of Medicine, 343, 1863-1875.
18. Pearce, S.H., Williamson, C., Kifor, O., Bai, M., Coulthard, M.G., Davies, M., Lewis-Barned, N., McCredie, D., Powell, H., Kendall-Taylor, P., Brown, E.M. & Thakker, R.V. (1996) A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. New England Journal of Medicine, 335, 1115-1122.
19. Pollak, M.R., Brown, E.M., Estep, H.L., McLaine, P.N., Kifor, O., Park, J., Hebert, S.C., Seidman, C.E. & Seidman, J.G. (1994) Autosomal dominant hypocalcaemia caused by a Ca(2+)-sensing receptor gene mutation. Nature Genetics, 8, 303-307.
20. Ding, C., Buckingham, B. & Levine, M.A. (2001) Familial isolated hypoparathyroidism caused by a mutation in the gene for the transcription factor GCMB. Journal of Clinical Investigation, 108, 1215-1220.
21. Goswami, R., Mohapatra, T., Gupta, N., Rani, R., Tomar, N., Dikshit, A. & Sharma, R.K. (2004) Parathyroid hormone gene polymorphism and sporadic idiopathic hypoparathyroidism. Journal of Clinical Endocrinology and Metabolism, 89, 4840-4845.