Identification and characterization of new variants of three associated SNPs and a microsatellite in the TSH receptor gene which are useful for genetic studies

Molecular and Cellular Probes

Volumn 22, Issue 5-6, 2008, Pages 281-286

  Esperante, Sebastián A ^a   Rivolta, Carina M ^a,b   Caputo, Mariela ^a   González Sarmiento, Rogelio ^b   Targovnik, Héctor M ^a,b  

^a INSTITUTO DE INVESTIGACIONES EN INGENIERÍA GENÉTICA Y BIOLOGÍA MOLECULAR   (Argentina)

^b UNIVERSITY OF SALAMANCA   (Spain)

Author keywords

Genotype; Haplotype; Microsatellite; Single nucleotide polymorphism; TSH receptor gene; TSH receptor polymorphism

Indexed keywords

ALPHA GLOBIN; FIBRONECTIN; MICROSATELLITE DNA; POLYACRYLAMIDE; THYROTROPIN RECEPTOR;

ARTICLE; DNA FLANKING REGION; EXON; GENE; GENE AMPLIFICATION; GENE EXPRESSION; GENETIC ASSOCIATION; GENETICS; HAPLOTYPE; HOMOZYGOSITY; HUMAN; INTRON; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN MOTIF; SINGLE NUCLEOTIDE POLYMORPHISM; THYROID DISEASE; THYROTROPIN RECEPTOR GENE;

BASE SEQUENCE; EXONS; HAPLOTYPES; HUMANS; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, THYROTROPIN; SEQUENCE ANALYSIS, DNA;

EID: 56449108269     PISSN: 08908508     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mcp.2008.06.003     Document Type: Article

References (23)

1. Kopp P. The TSH receptor and its role in thyroid disease. Cell Mol Life Sci 58 (2001) 1301-1322
2. Davies T., Marians R., and Latif R. The TSH receptor reveals itself. J Clin Invest 110 (2002) 161-164
3. Gross B., Misrahi M., Sar S., and Milgrom E. Composite structure of the human thyrotropin receptor gene. Biochem Biophys Res Commun 177 (1991) 679-687
4. Nagayama Y., Kaufman K.D., Seto P., and Rapoport B. Molecular cloning, sequence and functional expression of the cDNA for the human thyrotropin receptor. Biochem Biophys Res Commun 165 (1989) 1184-1190
5. Parmentier M., Libert F., Maenhaut C., Lefort A., Gerard C., Perret J., et al. Molecular cloning of the thyrotropin receptor. Science 246 (1989) 1620-1622
6. Misrahi M., Loosfelt H., Atger M., Sar S., Guiochon-Mantel A., and Milgrom E. Cloning, sequencing and expression of human TSH receptor. Biochem Biophys Res Commun 166 (1990) 394-403
7. Farid N.R., Kascur V., and Balazs C. The human thyrotropin receptor is highly mutable: a review of gain-of-function mutations. Eur J Endocrinol 143 (2000) 25-30
8. Corvilain B., Van Sande J., Dumont J.E., and Vassart G. Somatic and germline mutations of the TSH receptor and thyroid diseases. Clin Endocrinol (Oxf) 55 (2001) 143-158
9. Gustavsson B., Eklöf C., Westermark K., Westermark B., and Heldin N.E. Functional analysis of a variant of the thyrotropin receptor gene in a family with Graves' disease. Mol Cell Endocrinol 111 (1995) 167-173
10. de Roux N., Misrahi M., Chatelain N., Gross B., and Milgrom E. Microsatellites and PCR primers for genetic studies and genomic sequencing of the human TSH receptor gene Mol Cell Endocrinol 117 (1996) 253-256
11. Gabriel E.M., Bergert E.R., Grant C.S., van Heerden J.A., Thompson G.B., and Morris J.C. Germline polymorphism of codon 727 of human thyroid-stimulating hormone receptor is associated with toxic multinodular goiter. J Clin Endocrinol Metab 84 (1999) 3328-3335
12. Mühlberg T., Herrmann K., Joba W., Kirchberger M., Heberling H.J., and Heufelder A.E. Lack of association of nonautoimmune hyperfunctioning thyroid disorders and a germline polymorphism of codon 727 of the human thyrotropin receptor in a European Caucasian population. J Clin Endocrinol Metab 85 (2000) 2640-2643
13. Tonacchera M., and Pinchera A. Thyrotropin receptor polymorphisms and thyroid diseases. J Clin Endocrinol Metab 85 (2000) 2637-2639
14. Ban Y., Greenberg D.A., Concepcion E.S., and Tomer Y. A germline single nucleotide polymorphism at the intracellular domain of the human thyrotropin receptor does not have a major effect on the development of Graves' disease. Thyroid 12 (2002) 1079-1083
15. Chistiakov D.A., Savost'anov K.V., Turakulov R.I., Petunina N., Balabolkin M.I., and Nosikov V.V. Further studies of genetic susceptibility to Graves' disease in a Russian population. Med Sci Monit 8 (2002) CR180-CR184
16. Ho S.C., Goh S.S., and Khoo D.H. Association of Graves' disease with intragenic polymorphism of the thyrotropin receptor gene in a cohort of Singapore patients of multi-ethnic origins. Thyroid 13 (2003) 523-528
17. Hiratani H., Bowden D.W., Ikegami S., Shirasawa S., Shimizu A., Iwatani Y., et al. Multiple SNPs in intron 7 of thyrotropin receptor are associated with Graves' Disease. J Clin Endocrinol Metab 90 (2005) 2898-2903
18. Niksic M., Romano M., Buratti E., Pagani F., and Baralle F.E. Functional analysis of cis-acting elements regulating the alternative splicing of human CFTR exon 9. Hum Mol Genet 8 (1999) 2339-2349
19. Pagani F., Buratti E., Stuani C., Romano M., Zuccato E., Niksic M., et al. Splicing factors induce cystic fibrosis transmembrane regulator exon 9 skipping through a nonevolutionary conserved intronic element. J Biol Chem 275 (2000) 21041-21047
20. Murray M.G., and Thompson W.F. Rapid isolation of high molecular-weight plant DNA. Nucleic Acids Res 8 (1980) 4321-4325
21. Gutnisky V.J., Moya C.M., Rivolta C.M., Domené S., Varela V., Toniolo J.V., et al. Two distinct compound heterozygous constellation (R277X/IVS34-1G > C and R277X/R1511X) in the thyroglobulin (TG) gene in affected individuals of a Brazilian kindred with congenital goiter and defective TG synthesis. J Clin Endocrinol Metab 89 (2004) 646-657
22. Lewis P.O., and Zaykin D. Genetic Data Analysis: computer program for the analysis of allelic data. Version 1.0 (d16c). free program distributed by the authors over the internet from (2001). http://lewis.eeb.uconn.edu/lewishome/software.html
23. Hedjran F., Yeakley J.M., Huh G.S., Hynes R.O., and Rosenfeld M.G. Control of alternative pre-mRNA splicing by distributed pentameric repeats. Proc Nat Acad Sci USA 94 (1997) 12343-12347