Human chromosome fragility

Biochimica et Biophysica Acta - Gene Regulatory Mechanisms

Volumn 1779, Issue 1, 2008, Pages 3-16

  Lukusa, T ^a   Fryns, J P ^a  

^a UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

AT rich minisatellite repeat; CCG CGG trinucleotide repeat; Common fragile site; DNA torsional flexibility; Dynamic mutation; Rare fragile site

Indexed keywords

BASE SEQUENCE; CHROMOSOME FRAGILE SITES; CHROMOSOME FRAGILITY; CYTOGENETICS; DISTAMYCINS; DNA; FEMALE; FOLIC ACID; FRAGILE X SYNDROME; GENE EXPRESSION; HUMANS; MALE; TRINUCLEOTIDE REPEAT EXPANSION;

EID: 39449126238     PISSN: 18749399     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbagrm.2007.10.005     Document Type: Review

References (198)

1. Dekaban A. Persisting clone of cells with an abnormal chromosome in a woman previously irradiated. J. Nucl. Med. 6 (1965) 740-746
2. Schwartz M., Zlotorynski E., and Kerem B. The molecular basis of common and rare fragile sites. Cancer Lett. 232 (2006) 13-26 Review
3. Sutherland G.R., Baker E., and Seshadri R.S. Heritable fragile sites on human chromosomes. V. A new class of fragile site requiring BrdU for expression. Am. J. Hum. Genet. 32 (1980) 542-548
4. Sutherland G.R., Jacky P.B., and Baker E.G. Heritable fragile sites on human chromosomes. XI. Factors affecting expression of fragile sites at 10q25, 16q22, and 17p12. Am. J. Hum. Genet. 36 (1984) 110-122
5. Glover T.W., Berger C., Coyle J., and Echo B. DNA polymerase alpha inhibition by aphidicolin induces gaps and breaks at common fragile sites in human chromosomes. Hum. Genet. 67 (1984) 136-142
6. Sutherland G.R., and Hecht F. Fragile sites on human chromosomes, In: Oxford Monographs on Medical Genetics (1985), Oxford University Press, Oxford, U.K.
7. Sutherland G.R., and Richards R.I. The molecular basis of fragile sites in human chromosomes. Curr. Opin. Genet. Dev. 5 (1995) 323-327
8. Sutherland G.R., and Baker E. The clinical significance of fragile sites on human chromosomes. Clin. Genet. 58 (2000) 1-7
9. Glover T.W., and Stein C.K. Chromosome breakage and recombination at fragile sites. Am. J. Hum. Genet. 43 (1988) 265-273
10. Wang L., Paradee W., Mullins C., Shridhar R., Rosati R., Wilke C.M., Glover T.W., and Smith D.I. Aphidicolin-induced FRA3B breakpoints cluster in two distinct regions. Genomics 41 (1997) 485-488
11. Glover T.W., and Stein C.K. Induction of sister chromatid exchanges at common fragile sites. Am. J. Hum. Genet. 41 (1987) 882-890
12. Schmid M., Feichtinger W., and Haaf T. The fragile site (16)(q22). II. Sister chromatid exchanges. Hum. Genet. 76 (1987) 365-368
13. Feichtinger W., and Schmid M. Increased frequencies of sister chromatid exchanges at common fragile sites (1)(q42) and (19)(q13). Hum. Genet. 83 (1989) 145-745
14. Hirsch B. Sister chromatid exchanges are preferentially induced at expressed and nonexpressed common fragile sites. Hum. Genet. 87 (1991) 302-306
15. Lukusa T., Meulepas E., Fryns J.P., Van den Berghe H., and Cassiman J.J. "Spontaneous" FRA16B is a hot spot for sister chromatid exchanges. Hum. Genet. 87 (1991) 583-586
16. Tsuji H., Hitomi A., Takahashi E., Murata M., Ikeuchi T., Yamamoto K., Tsuji S., and Hori T. Induction of distamycin A-inducible rare fragile sites and increased sister chromatid exchanges at the fragile site. Hum. Genet. 87 (1991) 254-260
17. Coquelle A., Pipiras E., Toledo F., Buttin G., and Debatisse M. Expression of fragile sites triggers intrachromosomal mammalian gene amplification and sets boundaries to early amplicons. Cell 89 (1997) 215-225
18. Rassool F.V., McKeithan T.W., Neilly M.E., van Melle E., Espinosa R.D., and Le Beau M.M. Preferential integration of marker DNA into the chromosomal fragile site at 3p14: an approach to cloning fragile sites. Proc. Natl. Acad. Sci. U. S. A. 88 (1991) 6657-6661
19. Villa N., Dalpra L., and Larizza L. Expression of three rare fragile sites: chromosomal truncation, amplification of distal segment and telomeric renewal. Chromosoma 106 (1997) 400-404
20. Kotzot D., Martinez M.J., Bagci G., Basaran S., Baumer A., Binkert F., Brecevic L., Castellan C., Chrzanowska K., Dutly F., Gutkowska A., Karauzum S.B., Krajewska-Walasek M., Luleci G., Miny P., Riegel M., Schuffenhauer S., Seidel H., and Schinzel A. Parental origin and mechanisms of formation of cytogenetically recognisable de novo direct and inverted duplications. J. Med. Genet. 37 (2000) 281-286
21. Hellman A., Zlotorynski E., Scherer S.W., Cheung J., Vincent J.B., Smith D.I., Trakhtenbrot L., and Kerem B. A role for common fragile site induction in amplification of human oncogenes. Cancer Cell 1 (2002) 89-97
22. Jones C., Penny L., Mattina T., Yu S., Baker E., Voullaire L., Langdon W.Y., Sutherland G.R., Richards R.I., and Tunnacliffe A. Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2. Nature 376 6536 (1995) 145-149
23. Penny L.A., Dell'Aquila M., Jones M.C., Bergoffen J., Cunniff C., Fryns J.-P., Grace E., Graham J.M., Kouseff B., Mattina T., Syme J., Voullaire L., Zelante L., Zenger-Hain J., Jones O.W., and Evans G.A. Clinical and molecular characterization of patients with distal 11q deletions. Am. J. Hum. Genet. 56 3 (1995) 676-683
24. Arlt M.F., Miller D.E., Beer D.G., and Glover T.W. Molecular characterization of FRAXB and comparative common fragile site instability in cancer cells. Genes Chromosomes Cancer 33 (2002) 82-92
25. Denison S.R., Callahan G., Becker N.A., Phillips L.A., and Smith D.I. Characterization of FRA6E and its potential role in autosomal recessive juvenile parkinsonism and ovarian cancer. Genes Chromosomes Cancer 38 (2003) 40-52
26. Mangelsdorf M., Ried K., Woollatt E., Dayan S., Eyre H., Finnis M., Hobson L., Nancarrow J., Venter D., Baker E., and Richards R.I. Chromosomal fragile site FRA16D and DNA instability in cancer. Cancer Res. 60 (2000) 1683-1689
27. Mimori K., Druck T., Inoue H., Alder H., Berk L., Mori M., Huebner K., and Croce C.M. Cancer-specific chromosome alterations in the constitutive fragile region FRA3B. Proc. Natl. Acad. Sci. U. S. A. 96 (1999) 7456-7461
28. Wang L., Darling J., Zhang J.S., Qian C.P., Hartmann L., Conover C., Jenkins R., and Smith D.I. Frequent homozygous deletions in the FRA3B region in tumor cell lines still leave the FHIT exons intact. Oncogene 16 (1998) 635-642
29. Takahashi E., Kaneko Y., Ishihara T., Minamihisamatsu M., Murata M., and Hori T. A new rare distamycin A-inducible fragile site, fra(11) (p15.1), found in two acute nonlymphocytic leukemia (ANLL) patients with t(7;11)(p15-p13;p15). Hum. Genet. 80 (1988) 124-126
30. Wilke C.M., Guo S.W., Hall B.K., Boldog F., Gemmill R.M., Chandrasekharappa S.C., Barcroft C.L., Drabkin H.A., and Glover T.W. Multicolor FISH mapping of YAC clones in 3p14 and identification of YAC spanning both FRA3B and the t(3;8) associated with hereditary renal cell carcinoma. Genomics 22 (1994) 319-326
31. Krummel K.A., Roberts L.R., Kawakami M., Glover T.W., and Smith D.I. The characterization of the common fragile site FRA16D and its involvement in multiple myeloma translocations. Genomics 69 (2000) 37-46
32. Sutherland G.R. Rare fragile sites. Cytogenet. Genome Res. 100 (2003) 77-84
33. Baker E., and Sutherland G.R. A new folate sensitive fragile site at 1p21.3. J. Med. Genet. 28 (1991) 356-357
34. Sutherland G.R. Heritable fragile sites on human chromosomes. IX. Population cytogenetics and segregation analysis of the BrdU requiring fragile site at 10q25. Am. J. Hum. Genet. 34 (1982) 753-756
35. Schmid M., Feichtinger W., Jeβberger A., Köhler J., and Lange R. The fragile site (16)(q22) I. Induction by AT-specific DNA-ligands and population frequency. Hum. Genet. 74 (1986) 67-73
36. Sutherland G.R., and Baker E. Unusual behaviour of a human autosome having two rare folate sensitive fragile sites. Ann. Genet. 36 (1993) 159-162
37. Hocking T., Feichtinger W., Schmid M., Haan E.A., Baker E., and Sutherland G.R. Homozygotes for FRA16B are normal. Chromosome Res. 7 (1999) 553-556
38. Sutherland G.R. Heritable fragile sites on human chromosomes. I. Factors affecting expression in lymphocyte culture. Am. J. Hum. Genet. 31 (1979) 125-135
39. Sutherland G.R. The role of nucleotides in human fragile site expression. Mutat. Res. 200 (1988) 207-213
40. Subramanian P.S., Nelson D.L., and Chinault A.C. Large domains of apparent delayed replication timing associated with triplet repeat expansion at FRAXA and FRAXE. Am. J. Hum. Genet. 59 (1996) 407-416
41. Hansen R.S., Canfield T.K., Fjeld A.D., Mumm S., Laird C.D., and Gartler S.M. A variable domain of delayed replication in FRAXA fragile X chromosomes: X inactivation-like spread of late replication. Proc. Natl. Acad. Sci. U. S. A. 94 (1997) 4587-4592
42. Sarafidou T., Kahl C., Martinez-Garay I., Mangelsdorf M., Gesk S., Baker E., Kokkinaki M., Talley P., Maltby E.L., French L., Harder L., Hinzmann B., Nobile C., Richkind K., Finnis M., Deloukas P., Sutherland G.R., Kutsche K., Moschonas N.K., Siebert R., and Gécz J. Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein. Genomics 84 (2004) 69-81
43. Nancarrow J.K., Kremer E., Holman K., Eyre H., Doggett N.A., Le Paslier D., Callen D.F., Sutherland G.R., and Richards R.I. Implications of FRA16A structure for the mechanism of chromosomal fragile site genesis. Science 264 (1994) 1938-1941
44. Kremer E.J., Pritchard M., Lynch M., Yu S., Holman K., Baker E., Warren S.T., Schlessinger D., Sutherland G.R., and Richards R.I. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 252 (1991) 1711-1714
45. Oberlé I., Rousseau F., Heitz D., Kretz C., Devys D., Hanauer A., Boué J., Bertheas M.F., and Mandel J.-L. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252 (1991) 1097-1102
46. Verkerk A.J., Pieretti M., Sutcliffe J.S., Fu Y.H., Kuhl D.P., Pizzuti A., Reiner O., Richards S., Victoria M.F., Zang F., Eussen B.E., van Ommen G.-J.B., Blonden L.A.J., Riggins G.J., Chastain J.L., Kunst C.B., Galjaard H., Caskey C.T., Nelson D.L., Oostra B.A., and Warren S.T. 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 (1991) 905-914
47. Yu S., Pritchard M., Kremer E., Lynch M., Nancarrow J., Baker E., Holman K., Mulley J.C., Warren S.T., Schlessinger D., Sutherland G.R., and Richard R.I. Fragile X genotype characterized by an unstable region of DNA. Science 252 (1991) 1179-1181
48. 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., Pembry M.E., Holland J., Oostra B.A., Bobrow M., and Davies K.E. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74 (1993) 127-134
49. Parrish J.E., Oostra B.A., Verkerk A.J., Richards C.S., Reynolds J., Spikes A.S., Shaffer L.G., and Nelson D.L. Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Nat. Genet. 8 (1994) 229-235
50. Ritchie R.J., Knight S.J.L., Hirst M.C., Grewal P.K., Bobrow M., Cross G.S., and Davies K.E. The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter. Hum. Mol. Genet. 3 (1994) 2115-2121
51. Winnepenninckx B., Debacker K., Ramsay J., Smeets D., Smits A., FitzPatrick D.R., and Kooy R.F. CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1. Am. J. Hum. Genet. 80 (2007) 221-231
52. Richards R.I., and Sutherland G.R. Simple repeat DNA is not replicated simply. Nature Genet. 6 (1994) 114-116
53. Holden J.J., Walker M., Chalifoux M., and White B.N. Trinucleotide repeats at the FRAXF locus: frequency and distribution in the general population. Am. J. Med. Genet. 64 (1996) 424-427
54. Sinden R.R. Biological implications of the DNA structures associated with disease-causing triplet repeats. Am. J. Hum. Genet. 64 (1999) 346-353 Review
55. Sutherland G.R., and Richards R.I. Fragile sites-cytogenetic similarity with molecular diversity. Am. J. Hum. Genet. 64 (1999) 354-359
56. Snow K., Tester D.J., Kruckeberg K.E., Schaid D.J., and Thibodeau S.N. Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation. Hum. Mol. Genet. 3 (1994) 1543-1551
57. Kunst C.B., and Warren S.T. Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 77 (1994) 853-861
58. Eichler E.E., Holden J.J.A., Popovich B.W., Reiss A.L., Snow K., Thiebodeau S.N., Richards C.S., Ward P.A., and Nelson D.L. Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nature Genet. 8 (1994) 88-94
59. Hirst M.C., Grewal P.K., and Davies K.E. Precursor arrays for triplet repeat expansion at the fragile X locus. Hum. Mol. Genet. 3 (1994) 1553-1560
60. Fisch G.S., Snow K., Thibodeau S.N., Chalifaux D.L.M., Holden J.J.A., Nelson D.L., Howard-Peebles P.N., and Maddalena A. The fragile X premutation in carriers and its effect on mutation size in offspring. Am. J. Hum. Genet. 56 (1995) 1147-1155
61. Nancarrow J.K., Holman K., Mangelsdorf M., Hori T., Denton M., Sutherland G.R., and Richards R.I. Molecular basis of p(CCG) repeat instability at the FRA16A fragile site locus. Hum. Mol. Genet. 4 (1995) 367-372
62. Crawford D.C., Zhang F., Wilson B., Warren S.T., and Sherman S.L. Fragile X CGG repeat structures among African-Americans: identification of a novel factor responsible for repeat instability. Hum. Mol. Genet. 9 (2000) 1759-1769
63. Nolin S.L., Brown W.T., Glicksman A., Houck G.E., Gargano A.D., Sullivan A., Biancalana V., Bröndum-Nielsen K., Hjalgrim H., Holinski-Feder E., Kooy F., Longshore J., Macpherson J., Mandel J.-L., Matthijs G., Rousseau F., Steinbach P., Väisänen M.-L., von Koskull H., and Sherman S.L. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am. J. Hum. Genet. 72 (2003) 454-464
64. Ashley-Koch A.E., Robinson H., Glicksman A.E., Nolin S.L., Schwartz C.E., Brown W.T., Turner G., and Sherman S.L. Examination of factors associated with instability of the FMR1 CGG repeat. Am. J. Hum. Genet. 63 (1998) 776-785
65. Jones C., Slijepcevic P., Marsh S., Baker E., Langdon W.Y., Richards R.I., and Tunnacliffe A. Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3. Hum. Mol. Genet. 3 (1994) 2123-2130
66. Pearson C.E., and Sinden R.R. Trinucleotide repeat DNA structures: dynamic mutations from dynamic DNA. Curr. Opin. Struct. Biol. 8 (1998) 321-330
67. Chen X., Mariappan S.V., Catasti P., Ratliff R., Moyzis R.K., Laayoun A., Smith S.S., Bradbury E.M., and Gupta G. Hairpins are formed by the single DNA strands of the fragile X triplet repeats: structure and biological implications. Proc. Natl. Acad. Sci. U. S. A. 92 (1995) 5199-5203
68. Gacy A.M., Goellner G., Juranic N., Macura S., and McMurray C.T. Trinucleotide repeats that expand in human disease form hairpin structures in vitro. Cell 81 (1995) 533-540
69. Nadel Y., Weisman-Shomer P., and Fry M. The fragile X syndrome single strand d(CGG)n nucleotide repeats readily fold back to form unimolecular hairpin structures. J. Biol. Chem. 270 (1995) 28970-28977
70. Pearson C.E., and Sinden R.R. Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci. Biochemistry 35 (1996) 5041-5053
71. Pearson C.E., Eichler E.E., Lorenzetti D., Kramer S.F., Zoghbi H.Y., Nelson D.L., and Sinden R.R. Interruptions in the triplet repeats of SCA1 and FRAXA reduce the propensity and complexity of slipped strand DNA (S-DNA) formation. Biochemistry 37 (1998) 2701-2708
72. Fry M., and Loeb L.A. The fragile X syndrome d(CGG)n nucleotide repeats form a stable tetrahelical structure. Proc. Natl. Acad. Sci. U. S. A. 91 (1994) 4950-4954
73. Weisman-Shomer P., Cohen E., and Fry M. Interruption of the fragile X syndrome expanded sequence d(CGG)(n) by interspersed d(AGG) trinucleotides diminishes the formation and stability of d(CGG)(n) tetrahelical structures. Nucleic Acids Res. 28 (2000) 1535-1541
74. Usdin K., and Woodford K.J. CGG repeats associated with DNA instability and chromosome fragility form structures that block DNA synthesis in vitro. Nucleic Acids Res. 23 (1995) 4202-4209
75. Samadashwily G.M., Raca G., and Mirkin S.M. Trinucleotide repeats affect DNA replication in vivo. Nat. Genet. 17 (1997) 298-304
76. Bacolla A., Gellibolian R., Shimizu M., Amirhaeri S., Kang S., Ohshima K., Larson J.E., Harvey S.C., Stollar B.D., and Wells R.D. Flexible DNA: genetically unstable CTG.CAG and CGG.CCG from human hereditary neuromuscular disease genes. J. Biol. Chem. 272 (1997) 16783-16792
77. Gellibolian R., Bacolla A., and Wells R.D. Triplet repeat instability and DNA topology: an expansion model based on statistical mechanics. J. Biol. Chem. 272 (1997) 16793-16797
78. Wang Y.-H., Gellibolian R., Shimizu M., Wells R.D., and Griffith J. Long CCG triplet repeat blocks exclude nucleosomes: a possible mechanism for the nature of fragile sites in chromosomes. J. Mol. Biol. 263 (1996) 511-516
79. Wang Y.-H., and Griffith J. Methylation of expanded CCG triplet repeat DNA from fragile X syndrome patients enhances nucleosome exclusion. J. Biol. Chem. 271 (1996) 22937-22940
80. Ritchie R.J., Chakrabarti L., Knight S.J., Harding R.M., and Davies K.E. Population genetics of the FRAXE and FRAXF GCC repeats, and a novel CGG repeat, in Xq28. Am. J. Med. Genet. 73 (1997) 463-469
81. Hirst M.C., Barnicoat A., Flynn G., Wang Q., Daker M., Buckle V.J., Davies K.E., and Bobrow M. The identification of a third fragile site, FRAXF, in Xq27-q28 distal to both FRAXA and FRAXE. Hum. Mol. Genet. 2 (1993) 197-200
82. Vianna-Morgante A.M., Mingroni-Nett C., Barbosa A.C., Otto P.A., and Rosenberg C. FRAXF in a patient with chromosome 8 duplication. J. Med. Genet. 33 (1996) 611-614
83. Holden J.J., Wing M., Chalifoux M., Julien-Inalsingh C., Schutz C., Robinson P., Szatmari P., and White B.N. FRAXF in a patient with chromosome 8 duplication. J. Med. Genet. 33 (1996) 611-614
84. Knight S.J.L., Ritchie R.J., Chakrabarti L., Cross G., Taylor G.R., Muller R.F., Paterson J., Yates J.R.F., Dow D.J., Hurst J., and Davies K.E. A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the UK. Am. J. Hum. Genet. 58 (1996) 906-913
85. Michaelis R.C., Velagaleti G.V., Jones C., Pivnick E.K., Phelan M.C., Boyd E., Tarleton J., Wilroy R.S., Tunnacliffe A., and Tharapel A.T. Most Jacobsen syndrome deletion breakpoints occur distal to FRA11B. Am. J. Med. Genet. 76 (1998) 222-228
86. Tunnacliffe A., Jones C., Le Paslier D., Todd R., Cherif D., Birdsall M., Devenish L., Yousry C., Cotter F.E., and James M.R. Localization of Jacobsen syndrome breakpoints on a 40-Mb physical map of distal chromosome 11q. Genome Res. 9 (1999) 44-52
87. Sutherland G.R. Marker X chromosomes and mental retardation. N. Engl. J. Med. 296 (1977) 1415
88. Turner G., Webb T., Wake S., and Robinson H. Prevalence of fragile X syndrome. Am. J. Med. Genet. 64 (1996) 196-197
89. Rousseau F., Rouillard P., Morel M.L., Khandjian E.W., and Morgan K. Prevalence of carriers of premutation-size alleles of the FMRI gene-and implications for the population genetics of the fragile X syndrome. Am. J. Hum. Genet. 57 (1995) 1006-1018
90. Fu Y.H., Kuhl D.P., Pizzuti A., Pieretti M., Sutcliffe J.S., Richards S., Verkerk A.J., Holden J.J., Fenwick Jr. R.G., Warren S.T., Oostra B.A., Nelson D.L., and Caskey C.T. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67 (1991) 1047-1058
91. Gedeon A.K., Baker E., Robinson H., Partington M.W., Gross B., Manca A., Korn B., Poustka A., Yu S., Sutherland G.R., and Mulley J.C. Fragile X syndrome without CCG amplification has an FMR1 deletion. Nat. Genet. 1 (1992) 341-344
92. Wohrle D., Kotzot D., Hirst M.C., Manca A., Korn B., Schmidt A., Barbi G., Rott H.D., Poustka A., Davies K.E., and Steibach P. A microdeletion of less than 250 kb, including the proximal part of the FMR-I gene and the fragile-X site, in a male with the clinical phenotype of fragile X syndrome. Am. J. Hum. Genet. 51 (1992) 299-306
93. De Boulle K., Verkerk A.J., Reyniers E., Vits L., Hendrickx J., Van Roy B., Van den Bos F., de Graaff E., Oostra B.A., and Willems P.J. A point mutation in the FMR-1 gene associated with fragile X mental retardation. Nat. Genet. 3 (1993) 31-35
94. Knight S.J.L., Voelckel M.A., Hirst M.C., Flannery A.V., Moncla A., and Davies K.E. Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap. Am. J. Hum. Genet. 55 (1994) 81-86
95. Mulley J.C., Yu S., Loesch D.Z., Hay D.A., Donnelly A., Gedeon A.K., Carbonell P., Lopez I., Glover G., Gabarron J., Yu P.W.L., Bake E., Haan E.A., Hockey A., Knight S.L., Davies K.E., Richards R.I., and Sutherland G.R. FRAXE and mental retardation. J. Med. Genet. 32 (1995) 162-169
96. Gecz J., Gedeon A.K., Sutherland G.R., and Mulley J.C. Identification of the gene FMR2, associated with FRAXE mental retardation. Nat. Genet. 13 (1996) 105-108
97. Verkerk A.J., Eussen B.H., Van Hemel J.O., and Oostra B.A. Limited size of the fragile X site shown by fluorescence in situ hybridization. Am. J. Med. Genet. 43 (1992) 187-191
98. Strelnikov V., Nemtsova M., Chesnokova G., Kuleshov N., and Zaletayev D. A simple multiplex FRAXA, FRAXE, and FRAXF PCR assay convenient for wide screening programs. Hum. Mutat. 13 (1999) 166-169
99. Pieretti M., Zhang F., Fu Y.-H., Warren S.T., Oostra B.A., Caskey C.T., and Nelson D.L. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66 (1991) 817-822
100. Caskey T.C., Pizzuti A., Fu H.-Y., Fenwick R.G., and Nelson D.L. Triplet repeat mutation in human disease. Science 256 (1992) 784-788
101. Verheij C., Bakker C.E., De Graaff E., Keulemans J., Willemsen R., Verkerk A.J.M.H., Galjaard H., Reuser A.J.J., Hoogeveen A.T., and Oostra B.A. Characterisation and localisation of the FMR1 gene product associated with fragile X syndrome. Nature 363 (1993) 722-724
102. Gu Y., Shen Y., Gibbs R.A., and Nelson D.L. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nat. Genet. 13 (1996) 109-113
103. Crawford D.C., Acuña J.M., and Sherman S.L. FMR1 and the fragile X syndrome: human genome epidemiology review. Genet. Med. 3 (2001) 359-371
104. Partington M.W., Moore D.Y., and Turner G.M. Confirmation of early menopause in fragile X carriers. Am. J. Med. Genet. 64 (1996) 370-372
105. Allingham-Hawkins D.J., Babul-Hirji R., Chitayat D., Holden J.J.A., Yang K.T., Lee C., Hudson R., Gorwill H., Nolin S.L., Glicksman A., Jenkins E.C., Brown W.T., Howard-Peebles P.N., Becchi C., Cummings E., Fallon L., Seitz S., Black S.H., Vianna-Morgante A.M., Costa S.S., Otto P.A., Mingroni-Netto R.C., Murray A., Webb J., MacSwinney F., Dennis N., Jacobs P.A., Syrrou M., Georgiou I., Patsalis P.C., Uzielli M.L.G., Guarducci S., Lapi E., Cecconi A., Ricci U., Ricotti G., Biondi C., Scarselli B., and Vieri F. Fragile X premutation is a significant risk factor for premature ovarian failure: the international collaborative POF in fragile X study - preliminary data. Am. J. Med. Genet. 83 (1999) 322-325
106. Sullivan A.K., Marcus M., Epstein M.P., Allen E.G., Anido A.E., Paquin J.J., Yadav-Shah M., and Sherman S.L. Association of FMR1 repeat size with ovarian dysfunction. Hum. Reprod. 20 (2005) 402-412
107. Hundscheid R.D., Sistermans E.A., Thomas C.M., Braat D.D., Straatman H., Kiemeney L.A., Oostra B.A., and Smits A.P. Imprinting effect in premature ovarian failure confined to paternally inherited fragile X premutations. Am. J. Hum. Genet. 66 (2000) 413-418
108. Conway G.S., Payne N.N., Webb J., Murray A., and Jacobs P.A. Fragile X premutation screening in women with premature ovarian failure. Hum. Reprod. 13 (1998) 1184-1187
109. Sherman S.L. Premature ovarian failure in the fragile X syndrome. Am. J. Med. Genet. 97 (2000) 189-194
110. Bodega B., Bione S., Dalpra L., Toniolo D., Ornaghi F., Vegetti W., Ginelli E., and Marozzi A. Influence of intermediate and uninterrupted FMR1 CGG expansions in premature ovarian failure manifestation. Hum. Reprod. 21 (2006) 952-957
111. Murray A., Ennis S., and Morton N. No evidence for parent of origin influencing premature ovarian failure in fragile X premutation carriers. Am. J. Hum. Genet. 67 (2000) 253-254
112. Vianna-Morgante A.M., and Costa S.S. Premature ovarian failure is associated with maternally and paternally inherited premutation in Brazilian families with fragile X. Am. J. Hum. Genet. 67 (2000) 254-255
113. Sherman S.L. Premature ovarian failure among fragile X premutation carriers: parent-of-origin effect?. Am. J. Hum. Genet. 67 (2000) 11-13
114. Garcia-Alegria E., Ibanez B., Minguez M., Poch M., Valiente A., Sanz-Parra A., Martinez-Bouzas C., Beristain E., and Tejada M.I. Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models. RNA 13 (2007) 756-762
115. Hagerman P.J., Greco C.M., and Hagerman R.J. A cerebellar tremor/ataxia syndrome among fragile X premutation carriers. Cytogenet. Genome Res. 100 (2003) 206-212 Review
116. Jacquemont S., Hagerman R.J., Leehey M., Grigsby J., Zhang L., Brunberg J.A., Greco C., Des Portes V., Jardini T., Levine R., Berry-Kravis E., Brown W.T., Schaeffer S., Kissel J., Tassone F., and Hagerman P.J. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am. J. Hum. Genet. 72 (2003) 869-878
117. Jacquemont S., Hagerman R.J., Leehey M.A., Hall D.A., Levine R.A., Brunberg J.A., Zhang L., Jardini T., Gane L.W., Harris S.W., Herman K., Grigsby J., Greco C.M., Berry-Kravis E., Tassone F., and Hagerman P.J. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA 291 (2004) 460-469
118. Hagerman P.J., and Hagerman R.J. The fragile-X premutation: a maturing perspective. Am. J. Hum. Genet. 74 (2004) 805-816
119. Hagerman R.J., Leavitt B.R., Farzin F., Jacquemont S., Greco C.M., Brunberg J.A., Tassone F., Hessl D., Harris S.W., Zhang L., Jardini T., Gane L., Ferranti J., Ruiz L., Leehey M.A., Grigsby J., and Hagerman P.J. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am. J. Hum. Genet. 74 (2004) 1051-1056
120. Greco C.M., Hagerman R.J., Tassone F., Chudley A.E., Del Bigio M.R., Jacquemont S., Leehey M., and Hagerman P.J. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 125 (2002) 1760-1771
121. Feng Y., Zhang F., Lokey L.K., Chastain J.L., Lakkis L., Eberhart D., and Warren S.T. Translational suppression by trinucleotide repeat expansion at FMR1. Science 268 (1995) 731-734
122. Tassone F., Beilina A., Carosi C., Albertosi S., Bagni C., Li L., Glover K., Bentley D., and Hagerman P.J. Elevated FMR1 mRNA in premutation carriers is due to increased transcription. RNA 13 (2007) 555-562
123. Hagerman R.J., Leehey M., Heinrichs W., Tassone F., Wilson R., Hills J., Grigsby J., Gage B., and Hagerman P.J. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57 (2001) 127-130
124. Tassone F., Iwahashi C., and Hagerman P.J. FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS). RNA Biol. 1 (2004) 103-105
125. Iwahashi C.K., Yasui D.H., An H.J., Greco C.M., Tassone F., Nannen K., Babineau B., Lebrilla C.B., Hagerman R.J., and Hagerman P.J. Protein composition of the intranuclear inclusions of FXTAS. Brain 129 (2006) 256-271
126. Richards R.I., Holman K., Friend K., Kremer E., Hillen D., Staples A., Brown W.T., Goonewardena P., Tarleton J., Schwartz C., and Sutherland G.R. Evidence of founder chromosomes in fragile X syndrome. Nat. Genet. 1 (1992) 257-260
127. Portugal J., and Waring M.J. Comparison of binding sites in DNA for berenil, netropsin and distamycin. A footprinting study. Eur. J. Biochem. 167 (1987) 281-289
128. Portugal J., and Waring M.J. Assignment of DNA binding sites for 4′,6-diamidine-2-phenylindole and bisbenzimide (Hoechst 33258). A comparative footprinting study. Biochim. Biophys. Acta 949 (1988) 158-168
129. Abu-Daya A., Brown P.M., and Fox K.R. DNA sequence preference of several AT-selective minor groove binding ligands. Nucleic Acids Res. 23 (1995) 3385-3392
130. Fetni R., Drouin R., Richer C.L., and Lemieux N. Complementary replication R- and G-band patterns induced by cell blocking at the R-band/G-band transition, a possible regulatory checkpoint within the S phase of the cell cycle. Cytogenet. Cell Genet. 75 (1996) 172-179
131. Sutherland G.R., and Baker E. Peek-a-boo fragile sites? Not really. Am. J. Med. Genet. 96 (2000) 429-431
132. Takahashi E., Hori T., and Murata M. A new rare heritable fragile site at 8q24.1 found in a Japanese population. Clin. Genet. 33 (1988) 91-94
133. Sutherland G.R., and Ledbetter D.H. Report of the committee on cytogenetic markers. Cytogenet. Cell Genet. 51 (1989) 452-458 Review
134. Handt O., Baker E., Dayan S., Gartler S.M., Woollatt E., Richards R.I., and Hansen R.S. Analysis of replication timing at the FRA10B and FRA16B fragile site loci. Chromosome Res. 8 (2000) 677-688
135. Hewett D.R., Handt O., Hobson L., Mangelsdorf M., Eyre H.J., Baker E., Sutherland G.R., Schuffenhauer S., Mao J.I., and Richards R.I. FRA10B structure reveals common elements in repeat expansion and chromosomal fragile site genesis. Mol. Cell. 1 (1998) 773-781
136. Yu S., Mangelsdorf M., Hewett D., Hobson L., Baker E., Eyre H.J., Lapsys N., Le Paslier D., Doggett N.A., Sutherland G.R., and Richards R.I. Human chromosomal fragile site FRA16B is an amplified AT-rich minisatellite repeat. Cell 88 (1997) 367-374
137. Handt O., Sutherland G.R., and Richards R.I. Fragile sites and minisatellite repeat instability. Mol. Genet. Metab. 70 (2000) 99-105 Review
138. Laird C.D., Jaffe E., Karpen G., Lamb M., and Nelson R. Fragile sites in human chromosomes as regions of late replicating DNA. Trends Genet. 3 (1987) 274-281
139. Hsu Y.Y., and Wang Y.H. Human fragile site FRA16B DNA excludes nucleosomes in the presence of distamycin. J. Biol. Chem. 277 (2002) 17315-17319
140. Brown P.M., and Fox K.R. Minor groove binding ligands alter the rotational positioning of DNA fragments on nucleosome core particles. J. Mol. Biol. 262 (1996) 671-685
141. Berg J.M., Faunch J.A., Pendrey M.J., Penrose L.S., Ridler M.A., and Shapiro A. A homozygous chromosomal variant. Lancet 1 (1969) 531
142. Sutherland G.R. Heritable fragile sites on human chromosomes. VII. Children homozygous for the BrdU-requiring fra(10)(q25) are phenotypically normal. Am. J. Hum. Genet. 33 (1981) 946-949
143. Buhler E.M., and Malik N.J. The tricho-rhino-phalangeal syndrome(s): chromosome 8 long arm deletion: is there a shortest region of overlap between reported cases? TRP I and TRP II syndromes: are they separate entities?. Am. J. Med. Genet. 19 (1984) 113-119
144. Lüdecke H.J., Johnson C., Wagner M.J., Wells D.E., Turleau C., Tommerup N., Latos-Bielenska A., Sandig K.R., Meinecke P., Zabel B., and Horsthemke B. Molecular definition of the shortest region of deletion overlap in the Langer-Giedion syndrome. Am. J. Hum. Genet. 49 (1991) 1197-1206
145. Hou J., Parrish J., Ludecke H.J., Sapru M., Wang Y., Chen W., Hill A., Siegel-Bartelt J., Northrup H., Elder F.F.B., Chinault C., Horsthemke B., Wagner M.J., and Wells D.E. A 4-megabase YAC contig that spans the Langer-Giedion syndrome region on human chromosome 8q24.1: use in refining the location of the trichorhinophalangeal syndrome and multiple exostoses genes (TRPS1 and EXT1). Genomics 29 (1995) 87-97
146. Takahashi E., Hori T., and Murata M. Population cytogenetics of rare fragile sites in Japan. Hum. Genet. 78 (1988) 121-126
147. Yunis J.J., and Soreng A.L. Constitutive fragile sites and cancer. Science 226 (1984) 1199-1204
148. Glover T.W. Instability at chromosomal fragile sites. Recent Results Cancer Res. 154 (1998) 185-199 Review
149. Glover T.W. Common fragile sites. Cancer Letters 232 (2006) 4-12
150. Smeets D.F.C.M., Scheres J.M.J.C., and Hustinx T.W.J. The most common fragile site in man is 3p14. Hum. Genet. 72 (1986) 215-220
151. Wilke C.M., Hall B.K., Hoge A., Paradee W., Smith D.I., and Glover T.W. FRA3B extends over a broad region and contains a spontaneous HPV16 integration site: direct evidence for the coincidence of viral integration sites and fragile sites. Hum. Mol. Genet. 5 (1996) 187-195
152. Huang H., Qian J., Proffit J., Wilber K., Jenkins R., and Smith D.I. FRA7G extends over a broad region: coincidence of human endogenous retroviral sequences (HERV-H) and small polydispersed circular DNAs (spcDNA) and fragile sites. Oncogene 16 (1998) 2311-2319
153. Mishmar D., Rahat A., Scherer S.W., Nyakatura G., Hinzmann B., Kohwi Y., Mandel-Gutfroind Y., Lee J.R., Drescher B., Sas D.E., Margalit H., Platzer M., Weiss A., Tsui L.C., Rosenthal A., and Kerem B. Molecular characterization of a common fragile site (FRA7H) on human chromosome 7 by the cloning of a simian virus 40 integration site. Proc. Natl. Acad. Sci. U. S. A. 95 (1998) 8141-8146
154. Debatisse M., Coquelle A., Toledo F., and Buttin G. Gene amplification mechanisms: the role of fragile sites. Recent Results Cancer Res. 154 (1998) 216-226
155. Sutherland G.R., Parslow M.I., and Baker E. New classes of fragile sites induced by 5-azacytidine and BrdU. Hum. Genet. 69 (1985) 233-237
156. Paradee W., Wilke C.M., Wang L., Shridhar R., Mullins C.M., Hoge A., Glover T.W., and Smith D.I. A 350-kb cosmid contig in 3p14.2 that crosses the t(3;8) hereditary renal cell carcinoma translocation breakpoint and 17 aphidicolin-induced FRA3B breakpoints. Genomics 35 (1996) 87-93
157. Boldog F., Gemmill R.M., West J., Robinson M., Robinson L., Li E., Roche J., Todd S., Waggoner B., Lundstrom R., Jacobson J., Mullokandov M.R., Klinger H., and Drabkin H.A. Chromosome 3p14 homozygous deletions and sequence analysis of FRA3B. Hum. Mol. Genet. 6 (1997) 193-203
158. Ried K., Finnis M., Hobson L., Mangelsdorf M., Dayan S., Nancarrow J.K., Woollatt E., Kremmidiotis G., Gardner A., Venter D., Baker E., and Richards R.I. Common chromosomal fragile site FRA16D sequence: identification of the FOR gene spanning FRA16D and homozygous deletions and translocation breakpoints in cancer cells. Hum. Mol. Genet. 9 (2000) 1651-1663
159. Shiraishi T., Druck T., Mimori K., Flomenberg J., Berk L., Alder H., Miller W., Huebner K., and Croce C.M. Sequence conservation at human and mouse orthologous common fragile regions, FRA3B/FHIT and Fra14A2/Fhit. Proc. Natl. Acad. Sci. U. S. A. 98 (2001) 5722-5727
160. Paradee W., Jayasankar V., Mullins C., Wilke C., Glover T.W., and Smith D.I. Molecular characterization of the 3p14.2 constitutive fragile site. Am. J. Hum. Genet. 55 (1994) A115
161. Mishmar D., Mandel-Gutfroind Y., Margalit H., and Kerem B. Common fragile sites: G-band characteristics within an R-band. Am. J. Hum. Genet. 64 (1999) 908-910
162. Morelli C., Karayianni E., Magnanini C., Mungall A.J., Thorland E., Negrini M., Smith D.I., and Barbanti-Brodano G. Cloning and characterization of the common fragile site FRA6F harboring a replicative senescence gene and frequently deleted in human tumors. Oncogene 21 (2002) 7266-7276
163. Limongi M.Z., Pelliccia F., and Rocchi A. Characterization of the human common fragile site FRA2G. Genomics 81 (2003) 93-97
164. Zlotorynski E., Rahat A., Skaug J., Ben-Porat N., Ozeri E., Hershberg R., Levi A., Scherer S.W., Margalit H., and Kerem B. Molecular basis for expression of common and rare fragile sites. Mol. Cell. Biol. 23 (2003) 7143-7151
165. Krajewski W.A. Alterations in the internucleosomal DNA helical twist in chromatin of human erythroleukemia cells in vivo influences the chromatin higher-order folding. FEBS Lett. 361 (1995) 149-152
166. Krajewski W.A., and Ausio J. Relationship between chromatin high-order folding and nucleosomal linker twist in nuclei of human HeLa s3 cells. J. Biomol. Struct. Dyn. 14 (1997) 641-649
167. Casper A.M., Nghiem P., Arlt M.F., and Glover T.W. ATR regulates fragile site stability. Cell 111 (2002) 779-789
168. Wang L., Darling J., Zhang J.S., Huang H., Liu W., and Smith D.I. Allele-specific late replication and fragility of the most active common fragile site, FRA3B. Hum. Mol. Genet. 8 (1999) 431-437
169. Le Beau M.M., Rassool F.V., Neilly M.E., III Espinosa R., Glover T.W., Smith D.I., and McKeithan T.W. Replication of a common fragile site, FRA3B, occurs late in S phase and is delayed further upon induction: implications for the mechanism of fragile site induction. Hum. Mol. Genet. 7 (1998) 755-761
170. Hellman A., Rahat A., Scherer S.W., Darvasi A., Tsui L.C., and Kerem B. Replication delay along FRA7H, a common fragile site on human chromosome 7, leads to chromosomal instability. Mol. Cell. Biol. 20 (2000) 4420-4427
171. Chen H.H., Rau D.C., and Charney E. The flexibility of alternating dA-dT sequences. J. Biomol. Struct. Dyn. 2 (1985) 709-719
172. LaDuca R.J., Fay P.J., Chuang C., McHenry C.S., and Bambara R.A. Site-specific pausing of deoxyribonucleic acid synthesis catalyzed by four forms of Escherichia coli DNA polymerase III. Biochemistry 22 (1983) 5177-5188
173. Chen T., Sahin A., and Aldaz C.M. Deletion map of chromosome 16q in ductal carcinoma in situ of the breast: refining a putative tumor suppressor gene region. Cancer Res. 56 (1996) 5605-5609
174. Engelman J.A., Zhang X.L., and Lisanti M.P. Genes encoding human caveolin-1 and -2 are co-localized to the D7S522 locus (7q31.1), a known fragile site (FRA7G) that is frequently deleted in human cancers. FEBS Lett. 436 (1998) 403-410
175. Hibi K., Takahashi T., Yamakawa K., Ueda R., Sekido Y., Ariyoshi Y., Suyama M., Takagi H., Nakamura Y., and Takahashi T. Three distinct regions involved in 3p deletion in human lung cancer. Oncogene 7 (1992) 445-449
176. Negrini M., Monaco C., Vorechovsky I., Ohta M., Druck T., Baffa R., Huebner K., and Croce C.M. The FHIT gene at 3p14.2 is abnormal in breast carcinomas. Cancer Res. 56 (1996) 3173-3179
177. Michael D., Beer D.G., Wilke C.W., Miller D.E., and Glover T.W. Frequent deletions of FHIT and FRA3B in Barrett's metaplasia and esophageal adenocarcinomas. Oncogene 15 (1997) 1653-1659
178. Fang J.M., Arlt M.F., Burgess A.C., Dagenais S.L., Beer D.G., and Glover T.W. Translocation breakpoints in FHIT and FRA3B in both homologs of chromosome 3 in an esophageal adenocarcinoma. Genes Chromosomes Cancer 30 (2001) 292-298
179. Shridhar R., Shridhar V., Wang X., Paradee W., Dugan M., Sarkar F., Wilke C., Glover T.W., Vaitkevicius V.K., and Smith D. Frequent breakpoints in the 3p14.2 fragile site, FRA3B, in pancreatic tumors. Cancer Res. 56 (1996) 4347-4350
180. Zbar B., Brauch H., Talmadge C., and Linehan M. Loss of alleles of loci on the short arm of chromosome 3 in renal cell carcinoma. Nature 327 (1987) 721-724
181. Shridhar V., Wang L., Rosati R., Paradee W., Shridhar R., Mullins C., Sakr W., Grignon D., Miller O.J., Sun Q.C., Petros J., and Smith D.I. Frequent breakpoints in the region surrounding FRA3B in sporadic renal cell carcinomas. Oncogene 14 (1997) 1269-1277
182. Glover T.W., Coyle-Morris J.F., Li F.P., Brown R.S., Berger C.S., Gemmill R.M., and Hecht F. Translocation t(3;8)(p14.2;q24.1) in renal cell carcinoma affects expression of the common fragile site at 3p14(FRA3B) in lymphocytes. Cancer Genet. Cytogenet. 31 (1988) 69-73
183. Ohta M., Inoue H., Cotticelli M.G., Kastury K., Baffa R., Palazzo J., Siprashvili Z., Mori M., McCue P., Druck T., Croce C.M., and Huebner K. The FHIT gene, spanning the chromosome 3p14.2 fragile site and renal carcinoma-associated t(3;8) breakpoint, is abnormal in digestive tract cancers. Cell 84 (1996) 587-597
184. Huebner K., Hadaczek P., Siprashvili Z., Druck T., and Croce C.M. The FHIT gene, a multiple tumor suppressor gene encompassing the carcinogen sensitive chromosome fragile site, FRA3B. Biochim. Biophys. Acta 1332 (1997) M65-M70 Review
185. Sozzi G., Veronese M.L., Negrini M., Baffa R., Cotticelli M.G., Inoue H., Tornielli S., Pilotti S., De Gregorio L., Pastorino U., Pierotti M.A., Ohta M., Huebner K., and Croce C.M. The FHIT gene 3p14.2 is abnormal in lung cancer. Cell 85 (1996) 17-26
186. Virgilio L., Shuster M., Gollin S.M., Veronese M.L., Ohta M., Huebner K., and Croce C.M. FHIT gene alterations in head and neck squamous cell carcinomas. Proc. Natl. Acad. Sci. U. S. A. 93 (1996) 9770-9775
187. Huang H., Reed C.P., Mordi A., Lomberk G., Wang L., Shridhar V., and Hartmann L. Frequent deletions within FRA7G at 7q31.2 in invasive epithelial ovarian cancer. Genes Chromosomes Cancer 24 (1999) 48-55
188. Callahan G., Denison S.R., Phillips L.A., Shridhar V., and Smith D.I. Characterization of the common fragile site FRA9E and its potential role in ovarian cancer. Oncogene 22 (2003) 590-601
189. Sato T., Tanigami A., Yamakawa K., Akiyama F., Kasumi F., Sakamoto G., and Nakamura Y. Allelotype of breast cancer: cumulative allele losses promote tumor progression in primary breast cancer. Cancer Res. 50 (1990) 7184-7189
190. Tsuda H., Callen D.F., Fukutomi T., Nakamura Y., and Hirohashi S. Allele loss on chromosome 16q24.2-qter occurs frequently in breast cancers irrespectively of differences in phenotype and extent of spread. Cancer Res. 54 (1994) 513-517
191. Aldaz C.M., Chen T., Sahin A., Cunningham J., and Bondy M. Comparative allelotype of in situ and invasive human breast cancer: high frequency of microsatellite instability in lobular breast carcinomas. Cancer Res. 55 (1995) 3976-3981
192. Carter B.S., Ewing C.M., Ward W.S., Treiger B.F., Aalders T.W., Schalken J.A., Epstein J.I., and Isaacs W.B. Allelic loss of chromosomes 16q and 10q in human prostate cancer. Proc. Natl. Acad. Sci. U. S. A. 87 (1990) 8751-8755
193. Nishida N., Fukuda Y., Kokuryu H., Sadamoto T., Isowa G., Honda K., Yamaoka Y., Ikenaga M., Imura H., and Ishizaki K. Accumulation of allelic loss on arms of chromosomes 13q, 16q and 17p in the advanced stages of human hepatocellular carcinoma. Int. J. Cancer 51 (1992) 862-868
194. Bednarek A.K., Laflin K.J., Daniel R.L., Liao Q., Hawkins K.A., and Aldaz C.M. WOX, a novel WW domain-containing protein mapping to human chromosome 16q23.3-24.1, a region frequently affected in breast cancer. Cancer Res. 60 (2000) 2140-2145
195. Ramos D., and Aldaz C.M. WWOX, a chromosomal fragile site gene and its role in cancer. Adv. Exp. Med. Biol. 587 (2006) 149-159 Review
196. Huebner K., and Croce C.M. FRA3B and other common fragile sites: the weakest links. Nat. Rev. Cancer 1 (2001) 214-221
197. Savelyeva L., Sagulenko E., Schmitt J.G., and Schwab M. The neurobeachin gene spans the common fragile site FRA13A. Hum. Genet. 118 (2006) 1-8
198. Savelyeva L., Sagulenko E., Schmitt J.G., and Schwab M. Low-frequency common fragile sites: link to neuropsychiatric disorders?. Cancer Lett. 232 (2006) 58-69