A novel 25 bp tandem repeat within the human trefoil peptide gene TFF2 in 21q22.3: Polymorphism and mammalian evolution

European Journal of Human Genetics

Volumn 6, Issue 2, 1998, Pages 121-128

  Kayademir, Tuncay ^a   Dos Santos Silva, Elisabeth ^a   Pusch, Carsten ^a   Beck, Stefanie ^a   Machado, Jose Carlos ^a,b   Gott, Peter ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b University of Porto   (Portugal)

Author keywords

BAC; Bacterial artificial chromosomes; hP1.B hITF; hSP SML1; Minisatellite; pS2 BCEI; Spasmolytic protein; TFF; TFF domain; Trefoil factor family

Indexed keywords

DNA; TREFOIL PEPTIDE;

ALLELE; APE; ARTICLE; CAUCASIAN; CHROMOSOME 21Q; DNA POLYMORPHISM; EVOLUTION; GENE FREQUENCY; HETEROZYGOSITY; HUMAN; MOLECULAR CLONING; MONKEY; NONHUMAN; NORMAL HUMAN; PRIORITY JOURNAL; TANDEM REPEAT;

ALOCASIA MACRORRHIZOS; BACTERIA (MICROORGANISMS); LOTUS; MAMMALIA;

EID: 0031958694     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200166     Document Type: Article

References (35)

1. Thim L: A new family of growth factor-like peptides. 'Trefoil' disulphide loop structures as a common feature in breast cancer associated peptide (pS2), pancreatic spasmolytic polypeptide (PSP), and frog skin peptides (spasmolysins). FEBS Lett 1989; 250: 85-90.
2. Tomasetto C, Rio MC, Gautier C et al: hSP, the domainduplicated homolog of pS2 protein, is co-expressed with pS2 in stomach but not in breast carcinoma . EMBO J 1990; 9: 407-414.
3. Hoffmann W, Hauser F: The P-domain or trefoil motif: a role in renewal and pathology of mucous epithelia? Trends Biochem Sci 1993; 18: 239-243.
4. Sands BE, Podolsky DK: The trefoil peptide family. Annu Rev Physiol 1996; 58: 253-273.
5. Wright NA, Hoffmann W, Otto WR, Rio M-C, Thim L: Rolling in the clover: Trefoil factor family (TFF) domain peptides, cell migration and cancer. FEBS Lett 1997; 408: 121-123.
6. Dignass A, Lynch Devaney K, Kindon H, Thim L, Podolsky DK: Trefoil peptides promote epithelial migration through a transforming growth factor beta-independent pathway. J Clin Invest 1994; 94: 376-383.
7. Kindon H, Pothoulakis C, Thim L, Lynch Devaney K, Podolsky DK: Trefoil peptide protection of intestinal epithelial barrier function: cooperative interaction with mucin glycoprotein. Gastroenterology 1995; 109: 516-523.
8. Alison MR, Chinery R, Poulsom R, Ashwood P, Longcroft JM, Wright NA: Experimental ulceration leads to sequential expression of spasmolytic polypeptide, intestinal trefoil factor, epidermal growth factor and transforming growth factor alpha mRNAs in rat stomach. J Pathol 1995 175: 405-414.
9. Babyatsky MW, DeBeaumont M, Thim L, Podolsky DK: Oral trefoil peptides protect against ethanol- and indomethacin-induced gastric injury in rats. Gastroenterology 1996; 110: 489-497.
10. Playford RJ, Marchbank T, Chinery R et al: Human spasmolytic polypeptide is a cytoprotective agent that stimulates cell migration. Gastroenterology 1995; 108: 108-116.
11. Mashimo H, Wu DC, Podolsky DK, Fishman MC: Impaired defense of intestinal mucosa in mice lacking intestinal trefoil factor. Science; 1996; 274: 262-265.
12. Lefebvre O, Chenard MP, Masson R et al: Gastric mucosa abnormalities and tumorigenesis in mice lacking the pS2 trefoil protein. Science 1996; 274: 259-262.
13. Schmitt H, Wundrack I, Beck S et al: A third P-domain peptide gene, human intestinal trefoil factor (TFF3), maps to 21q22.3. Cytogenet Cell Genet 1996; 72: 299-302.
14. Theisinger B, Welter C, Grzeschik KH, Blin N: Assignment of the gene for human spasmolytic protein (hSP/ SML1) to chromosome 21. Hum Genet 1992; 89: 681-682.
15. Beck S, Schmitt H, Shizuya H, Blin N, Gött P: Cloning of contiguous fragments from human chromosome 21 harbouring three trefoil peptide genes. Hum Genet 1996; 98: 233-235.
16. Gott P, Beck S, Machado JC, Carneiro F, Schmitt H, Blin N: Human trefoil peptides: Genomic structure in 21q22.3 and coordinated expression. Eur J Hum Genet 1996; 4: 308-315.
17. Theisinger B, Welter C, Seitz G, Rio MC, Lathe R, Chambon P, Blin N: Expression of the breast cancer associated gene pS2 and the pancreatic spasmolytic polypeptide gene (hSP) in diffuse type of stomach carcinoma. Eur J Cancer 1991; 27: 770-773.
18. Welter C, Theisinger B, Seitz G, Tomasetto C, Rio MC, Chambon P, Blin N: Association of the human spasmolytic polypeptide and an estrogen-induced breast cancer protein (pS2) with human pancreatic carcinoma. Lab Invest 1992; 66: 187-192.
19. Seitz G, Thelsinger B, Tomasetto G, Rio MC, Chambon P, Blin N, Welter G: Breast cancer-associated protein pS2 expression in tumors of the biliary tract. Am J Gastroenterol 1991; 86: 1491-1494.
20. Wright NA, Poulsom R, Stamp G et al: Trefoil peptide gene expression in gastrointestinal epithelial cells in inflammatory bowel disease. Gastroenterology 1993; 104: 12-20.
21. Jeltsch JM, Roberts M, Schatz C, Gamier JM, Brown AM, Chambon P: Structure of the human oestrogen-responsive gene pS2. Nucleic Acids Res 1987; 15: 1401-1414.
22. Seib T, Dooley S, Welter C: Characterization of the genomic structure and the promoter region of the human intestinal trefoil factor. Biochem Biophys Res Commun 1995; 214: 195-199.
23. Kennedy GC, German MS, Rutter WJ: The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription. Nature Genet 1995; 9: 293-298.
24. Virtaneva K, D'Amato E, Miao IM et al: Unstable minisatellite expansion causing recessively inherited myoclonus epilepsy, EPM1. Nature Genet 1997; 15: 393-396.
25. Lalioti MD, Scott HS, Buresi C et al: Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy. Nature 1997; 386: 847-851.
26. Yu S, Mangelsdorf M, Hewett D et al: Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat. Cell1997; 88: 367-374.
27. Shizuya H, Birren B, Kim UJ, Mancino V, Slepak T, Tachiiri Y, Simon M: Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector. Proc Natl Acad Sci USA 1992; 89: 8794-8797.
28. Chomczynski P: One-hour downward alkaline capillary transfer for blotting of DNA and RNA. Analytical Biochemistry 1992; 201: 134-139.
29. Kang HK, Cox DW: Tandem repeats 3' of the IGHA genes in the human immunoglobulin heavy chain gene cluster. Genomics 1996 35: 189-195.
30. Seib T, Blin N, Hilgert K et al: The three human trefoil genes TFF1, TFF2 and TFF3 are located within a region of 55kb on chromosome 21q22.3. Genomics 1997; 40: 200-202.
31. Featherstone C: Soothing the troubled gut with trefoil factors. Lancet 1997; 349: 706.
32. Green M, Krontiris TG: Allelic variation of reporter gene activation by the HRAS1 minisatellite. Genomics 1993 17: 429-434.
33. Taupin DR, Pang KC, Green SP, Giraud AS: The trefoil peptides spasmolyitc polypeptide and intestinal trefoil factor are major secretory product of the rat gut. Peptides 1995; 16: 1001-1005.
34. Lafrenière RG, Rochefort DL, Chrétien N et al: Unstable insertion in the 5' flanking region of the cystatin B gene is the most common mutation in progressive myoclonus epilepsy type 1, EPM1. Nature Genet 1997; 15: 298-302.
35. Sakata K, Tamura G, Nishizuka S et al: Commonly deleted regions on the long arm of chromosome 21 in differentiated adenocarcinoma of the stomach. Genes, chromosomes & cancer 1997; 18: 318-321.