Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat

Cell

Volumn 88, Issue 3, 1997, Pages 367-374

  Yu, Sui ^a   Mangelsdorf, Marie ^a   Hewett, Duncan ^a   Hobson, Lynne ^a   Baker, Elizabeth ^a   Eyre, Helen J ^a   Lapsys, Naras ^a,d   Le Paslier, Denis ^b   Doggett, Norman A ^c   Sutherland, Grant R ^a   Richards, Robert I ^a  

^a WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^b FONDATION JEAN DAUSSET CEPH   (France)

^c LOS ALAMOS NATIONAL LABORATORY   (United States)

^d GARVAN INSTITUTE OF MEDICAL RESEARCH   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

DIMINAZENE ACETURATE; DISTAMYCIN A; FOLIC ACID; TRINUCLEOTIDE;

ARTICLE; CHROMOSOME 16Q; CHROMOSOME BREAKAGE; DNA SEQUENCE; FRAGILE X SYNDROME; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; MENTAL DEFICIENCY; MOLECULAR CLONING; PRIORITY JOURNAL; SEQUENCE TAGGED SITE; TRINUCLEOTIDE REPEAT; VARIABLE NUMBER OF TANDEM REPEAT;

EID: 0030974861     PISSN: 00928674     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0092-8674(00)81875-9     Document Type: Article

References (38)

1. Altschul, S.F., Gish, W., Miller, W., Myers, E.W., and Lipman, D.J. (1990). Basic local alignment search tool. J. Mol. Biol. 215, 403-410.
2. Bennet, S.T., Lucassen, A.M., Gough, S.C.L., Powell, E.E., Undlien, D.E., Pritchard, L.E., Merriman, M.E., Kawaguchi, Y., Dronsfield, M.J., Pociot, F., et al. (1995). Susceptibility to human type 1 diabetes at IDDM2 is determined by tandem repeat variation at the insulin gene minisatellite locus. Nature Genet. 9, 284-292.
3. Berg, E.S., and Olaisen, B. (1993). Characterization of the COL2A1 VNTR polymorphism. Genomics 16, 350-354.
4. Gallen, D.F., Baker, E., Eyre, H.J., Chernos, J.E., Bell, J.A. and Sutherland, G.R. (1990). Reassessment of two apparent deletions of chromosome 16p to an ins(11;16) and a t(1;16) by chromosome painting. Ann. Genet. 33, 219-221.
5. Campuzano, V., Motermini, L., Molto, M.D., Pianese, L., Cossee, M., Cavalcanti, F., Monros, E., Rodius, F., Duclos, F., Monticelli, A., et al. (1996). Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271, 1423-1427.
6. Doggett, N.A., Goodwin, L.A., Tesmer, J.G., Meincke, L.J., Bruce, D.C., Clark, L.M., Altherr, M.R., Ford, A.A., Chi, H.C., Marrone, B.L. (1995). An integrated physical map of human chromosome 16. Nature 377 supplement, 335-365.
7. Fishel, R., and Kolodner, R.D. (1995). Identification of mismatch repair genes and their role in the development of cancer. Curr. Opin. Genet. Dev. 5, 382-395.
8. Garcia-Sagredo, J.M., San Roman, C., Gallego Gomez, M.E., Lledo, G. (1983). Fragile chromosome 16(q22) cause a balanced translocation at the same point. Hum. Genet. 65, 211-213.
9. Igarashi, S., Tanno, Y., Onodera, O., Ymamzaki, M., Sato, S., Ishikawa, A., Miyatani, N., Nagashima, M., Ishikawa, Y., Sahashi, K., et al. (1996). Intergenerational instability of the CAG repeat of the gene for Machado-Joseph disease (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat. Hum. Mol. Genet. 5, 923-932.
10. Jalal, S.M., Lindor, N.M., Michels, V.V., Buckley, D.D. Hoppe, D.A., Sarkar, G., and Dewald, G.W. (1993). Absence of chromosome fragility at 19q13.3 in patients with myotonic dystrophy. Am. J. Med. Genet. 46, 441-443.
11. Jeffreys, A.J., Tamaki, K., MacLeod, A., Monckton, D.G., Neil, D.L., and Armour, J.A. (1994). Complex gene conversion events in germline mutation at human minisatellites. Nature Genet. 6, 136-145.
12. Jones, C., Penny, L., Mattina, T., Yu, S., Baker, E., Voullaire, L., Langdon, W.Y., Sutherland, G.R., Richards, R.I., and Tunnacliffe, A. (1995). A fragile site within the proto-oncogene CBL2 associated with a chromosome deletion syndrome. Nature 376, 145-149.
13. Kennedy, G.C., German, M.S., and Rutter, W.J. (1995). The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription. Nature Genet. 9, 293-298.
14. Klevit, R.E., Wemmer, D.E., and Reid, B.R. (1986). 1H NMR studies on the interaction between distamycin A and a symmetrical DNA dodecamer. Biochemistry 25, 3296-3303.
15. Knight, S.J.L., Flannery, A.V., Hirst, M.C., Campbell, L., Christodoulou, Z., Phelps, S.R., Pointon, J., Middleton-Price, H.R., Barnicoat, A., Pembrey, M.E., et al. (1993). Tri-nucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74, 127-134.
16. Kremer, E., Pritchard, M., Lynch, M., Yu, S., Holman, K., Baker, E., Warren, S.T., Schlessinger, D., Sutherland, G.R., and Richards, R.I. (1991). Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 252, 1711-1714.
17. Krontiris, T.G., Devlin, B., Karp, D.D., Robert, N.J., and Risch, N. (1993). An association between the risk of cancer and mutations in the HRAS1 minisatellite locus. N. Engl. J. Med. 329, 517-523.
18. Lindblad, K., Zander, C., Schalling, M., and Hudson, T. (1994). Growing triplet repeats. Nature Genet. 7, 124.
19. Monckton, D.G., Neumann, R., Guram, T., Fretwell, N., Tamaki, K., MacLeod, A., and Jeffreys, A.J. (1994). Minisatellite mutation rate variation associated with a flanking DNA sequence polymorphism. Nature Genet. 8, 162-170.
20. Nancarrow, J.K., Kremer, E., Holman, K., Eyre, H., Doggett, N.A., LePaslier, D., Callen, D.F., Sutherland, G.R., Richards, R.I. (1994). Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis. Science 264, 1938-1941.
21. Oberle, I., Rousseau, F., Heitz, D., Kretz, C., Devys, D., Hanauer, A., Boue, J., Bertheas, M.F., Mandel, J-L. (1991). Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252, 1097-1102.
22. Ohta, M., Inoue, H., Cotticelli, M.G., Kastury, K., Baffa, R., Paiazzo, J., Siprashvili, Z., Mori, M., McCue, P., Druck, T., et al. (1996). The human FHIT gene, spanning the chromosome 3p14.2 fragile site and renal carcinoma-associated translocation breakpoint, is abnormal in digestive tract cancers. Cell 84, 587-597.
23. O'Hoy, K.L., Tsilfidis, C., Mahadevan, M.S., Neville, C.E., Barcelo, J., Hunter, A.G.W., and Korneluk, R.G. (1993). Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission. Science 259, 809-812.
24. Parrish, J., Oostra, B.A., Verkerk, A.J.M.H., Richards, C.S., Reynolds, J., Spikes, A.S., Shaffer, L.G., and Nelson, D.L. (1994). Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Nature Genet. 8, 229-235.
25. Phelan, C.M., Rebbeck, T.R., Weber, B.L, Devilee, P., Ruttledge, M.H., Lynch, H.T., Lenoir, G.M., Stratton, M.R., Easton, D.F., Ponder, B.A.J., et al. (1996). Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus. Nature Genet. 12, 309-311.
26. Pieretti, M., Zhang, F., Fu, Y-H, Warren, ST., Oostra, B.A., Caskey, C.T., and Nelson, D.L. (1991). Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66, 817-822.
27. Richards, R.I., and Sutherland, G.R. (1992). Dynamic mutations: a new class of mutations causing human genetic disease. Cell 70, 709-712.
28. Schmid, M., Feichtinger W., Jeßberger, A., Kohler, J., Lange, R. (1986). The fragile site 16(q22). I. Induction by AT-specific DNA-ligands and population frequency. Human Genet. 74, 67-73.
29. Sozzi, G., Veronese, M.L., Negrini, M., Baffa, R., Cotticelli, M.G., Inoue, H., Tornielli, S., Pilotti, S., De Gregorio, L., Pastorino, U., et al. (1996). The FHIT gene at 3p14.2 is abnormal in lung cancer. Cell 85, 17-26.
30. Sutherland, G.R., Jacky, P.B., and Baker, E.G. (1984). Heritable fragile sites on human chromosomes. XI. Factors affecting expression of fragile sites at 10q25, 16q22 and 17p12. Am. J. Hum. Genet. 36, 110-112.
31. Sutherland, G.R., and Richards, R.I. (1995a). The molecular basis of fragile sites on human chromosomes. Curr. Opin. Genet. Dev. 5, 323-327.
32. Sutherland, G.R., and Richards, R.I. (1995b). Simple tandem repeats and human genetic disease. Proc. Natl. Acad. Sci. USA 92, 3636-3641.
33. Verkerk, A.J.M.H., Pieretti, M., Sutcliffe, J.S., Fu, Y-H., Kuhl, D.P.A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M.F., Zhang, F., et al. (1991). Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65, 905-914.
34. Vincent, A., Heitz, D., Petit, C., Kretz, C., Oberle, I. and Mandel, J-L. (1991). Abnormal pattern detected in fragile X patients by pulsefield gel electrophoresis. Nature 349, 624-626.
35. Weber, J.L. (1990). Informativeness of human (dC-dA)n (dG-dT)n polymorphisms. Genomics 7, 524-530.
36. Wilke, C.M., Hall, B.K., Hoge, A., Paradee, W., Smith, D.I., and Glover, T.W. (1996). FRA3B extends over a broad range and contains a spontaneous HPV16 integration site: direct evidence for the coincidence of viral integration sites and fragile sites. Hum. Mol. Genet. 5, 187-195.
37. Yu, S., Pritchard, M., Kremer, E., Lynch, M., Nancarrow, J., Baker, E., Holman, K., Mulley, J.C., Warren, S.T., Schlessinger, D., et al. (1991). Fragile X syndrome characterized by an unstable region of DNA. Science 252, 1179-1182.
38. Yu, S., Mulley, J.C., Loesch, D., Turner, G., Donnelly, A., Gedeon, A., Hillen, D., Kremer, E., Lynch, M., Pritchard, M., et al. (1992). Fragile X syndrome: unique genetics of the heritable unstable element. Am. J. Hum. Genet. 50, 968-980.