Identification and characterization of a novel large insertion/deletion polymorphism of 1464 base pair in the human thyroglobulin gene

Thyroid

Volumn 13, Issue 4, 2003, Pages 319-323

  Moya, Christian M ^a   Varela, Viviana ^a   Rivolta, Carina M ^a   Mendive, Fernando M ^a   Targovnik, Héctor M ^a  

^a UNIVERSIDAD DE BUENOS AIRES   (Argentina)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GENOMIC DNA; PALINDROMIC DNA; PRIMER DNA; THYROGLOBULIN;

ALLELE; ARTICLE; BASE PAIRING; BIOTECHNOLOGY; CONTROLLED STUDY; EXON; GENE AMPLIFICATION; GENE DELETION; GENE FREQUENCY; GENE IDENTIFICATION; GENE INSERTION SEQUENCE; GENE LOCATION; GENE SEQUENCE; GENE STRUCTURE; GENETIC ANALYSIS; GENETIC POLYMORPHISM; HUMAN; INTRON; NORMAL HUMAN; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SEQUENCE HOMOLOGY;

EID: 0037687837     PISSN: 10507256     EISSN: None     Source Type: Journal    
DOI: 10.1089/105072503321669785     Document Type: Article

References (25)

1. van de Graaf SAR, Ris-Stalpers C, Pauws E, Mendive FM, Targovnik HM, de Vijlder JJM 2001 Up-to-date with the human thyroglobulin sequence. J Endocrinol 170:307-321.
2. van Ommen G-JB, Arnberg AC, Baas F, Brocas H, Sterk A, Tegelaers WHH, Vassart G, de Vijlder JJM 1983 The human thyroglobulin gene contains two 15-17 kb introns nears its 3′-end. Nucleic Acids Res 11:2273-2285.
3. Targovnik HM, Pohl V, Christophe D, Cabrer B, Brocas H, Vassart G 1984 Structural organization of the 5′ region of the human thyroglobulin gene. Eur J Biochem 141:271-277.
4. Baas F, van Ommen G-JB, Bikker H, Arnberg, AC, de Vijlder JJM 1986 The human thyroglobulin gene is over 300 kb long and contains introns of up to 64 Kb. Nucleic Acids Res 14:5171-5186.
5. Parma J, Christophe D, Pohl V, Vassart G 1987 Structural organization of the 5′ region of the thyroglobulin gene. Evidence for intron loss and "exonization" during evolution. J Mol Biol 196:769-779.
6. Targovnik H, Paz C, Corach D, Christophe D 1992 The 5′ region of the human thyroglobulin gene contains members of the Alu family. Thyroid 2:321-324.
7. Mendive FM, Rivolta CM, Vassart G, Targovnik HM 1999 Genomic organization of the 3′ region of the human thyroglobulin gene. Thyroid 9:903-912.
8. Moya CM, Mendive FM, Rivolta CM, Vassart G, Targovnik HM 2000 Genomic organization of the 5′ region of the human thyroglobulin gene. Eur J Endocrinol 143:789-798.
9. Mendive FM, Rivolta CM, Moya CM, Vassart G, Targovnik HM 2001 Genomic organization of the human thyroglobulin gene. The complete intron-exon structure. Eur J Endocrinol 145:485-496.
10. Ieiri T, Cochaux P, Targovnik HM, Suzuki M, Shimoda S-I, Perret J, Vassart G 1991 A 3′ splice site mutation in the thyroglobulin gene responsible for congenital goiter with hypothyroidism. J Clin Invest 88:1901-1905.
11. Targovnik HM, Medeiros-Neto G, Varela V, Cochaux P, Wajchenberg BL, Vassart G 1993 A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger. J Clin Endocrinol Metab 77: 210-215.
12. Targovnik HM, Vono J, Billerbeck AEC, Cerrone GE, Varela V, Mendive F, Wajchenberg BL, Medeiros-Neto G 1995 A 138-nucleotide deletion in the thyroglobulin ribonucleic acid messenger in a congenital goiter with defective thyroglobulin synthesis. J Clin Endocrinol Metab 80:3356-3360.
13. Targovnik HM, Frechtel GD, Mendive FM, Vono J, Cochaux P, Vassart G, Medeiros-Neto G 1998 Evidence for the segregation of three different mutated alleles of the thyroglobulin gene in a Brazilian family with congenital goiter and hypothyroidism. Thyroid 8:291-297.
14. Hishinuma A, Takamatsu J, Ohyama Y, Yokozawa T, Kanno Y, Kuma K, Yoshida S, Matsuura N, Ieri T 1999 Two novel cysteine substitutions (C1263R and C1995S) of thyroglobulin cause a defect in intracellular transport of thyroglobulin in patients with congenital goiter and the variant type of adenomatous goiter. J Clin Endocrinol Metab 84:1438-1444.
15. van de Graaf SAR, Ris-Stalpers C, Veenboer GJM, Cammenga M, Santos C, Targovnik HM, de Vijlder JJM, Medeiros-Neto G 1999 A premature stop codon in thyroglobulin mRNA results in familial goiter and moderate hypothyroidism. J Clin Endocrinol Metab 84:2537-2542.
16. Targovnik HM, Rivolta CM, Mendive FM, Moya CM, Medeiros-Neto G 2001 Congenital goiter with hypothyroidism due to a 5′ splice site mutation in the thyroglobulin gene. Thyroid 11:683-688.
17. Corral J, Martín C, Pérez R, Sánchez I, Mories MT, San Millan JL, Miralles JM, González-Sarmiento R 1993 Thyroglobulin gene point mutation associated with non-endemic simple goitre. Lancet 341:462-464.
18. Pérez-Centeno C, González-Sarmiento R, Mories MT, Corrales JJ, Miralles-García JM 1996 Thyroglobulin exon 10 gene point mutation in a patient with endemic goiter. Thyroid 6:423-427.
19. Gonzalez-Sarmiento R, Corral J, Mories MT, Corrales JJ, Miguel-Velado E, Miralles-Garcia JM 2001 Monoallelic deletion in the 5′ region of the thyroglobulin gene as a cause of sporadic nonendemic simple goiter. Thyroid 11:789-793.
20. Sokal RR, Rohlf FJ 1995 Biometry: The Principles and Practice of Statistics in Biological Research. W.H. Freeman, New York.
21. Rigat B, Hubert C, Alhenc-Gelas F, Cambien F, Corvol P, Soubrier F 1990 An insertion/deletion polymorphism in the angiotensin I-converting enzyme gene accounting for half the variance of serum enzyme levels. J Clin Invest 86:1343-1346.
22. Schmid CW 1996 Alu: Structure, origin, evolution, significance and function of one-tenth of human DNA. Prog Nucleic Acid Res Mol Biol 53:283-319.
23. Dombroski BA, Scott AF, Kazazian HH 1993 Two additional potential retrotransposons isolated from a human L1 subfamily that contains an active retrotransposable element. Proc Natl Acad Sci USA 90:6513-6517.
24. Feuchter-Murthy AE, Freeman JD, Mager DL 1993 Splicing of a human endogenous retrovirus to a novel phospholipase A2 related gene. Nucleic Acids Res 21:135-143.
25. Sassaman DM, Dombroski BA, Moran JV, Kimberland ML, Naas TP, De Berardinis RJ, Gabriel A, Swergold GD, Kazazian HH 1997 Many human L1 elements are capable of retrotransposition. Nat Genet 16:37-43.