Fragile X founder chromosomes in Italy: A few initial events and possible explanation for their heterogeneity

American Journal of Medical Genetics

Volumn 64, Issue 1, 1996, Pages 209-215

  Chiurazzi, P ^a,e   Genuardi, M ^a   Kozak, L ^a,f   Giovannucci Uzielli, M L ^b   Bussani, C ^b   Dagna Bricarelli, F ^c   Grasso, M ^c   Perroni, L ^c   Sebastio, G ^d   Sperandeo, M P ^d   Oostra, B A ^e   Neri, G ^a  

^a CATHOLIC UNIVERSITY   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c GALLIERA HOSPITAL   (Italy)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^e ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^f Institute for Child Health   (Czech Republic)

Author keywords

founder chromosomes; fragile X; marker heterozygosity; microsatellite markers; population genetics

Indexed keywords

MICROSATELLITE DNA;

ALLELISM; ARTICLE; CHROMOSOME ANALYSIS; CHROMOSOME SATELLITE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; FRAGILE X SYNDROME; GENETIC HETEROGENEITY; HAPLOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; ITALY; MAJOR CLINICAL STUDY; MALE; MULTICENTER STUDY; MUTATION RATE; PRIORITY JOURNAL;

ALLELES; FOUNDER EFFECT; FRAGILE X SYNDROME; GENE FREQUENCY; GENETIC HETEROGENEITY; HAPLOTYPES; HUMANS; ITALY;

EID: 0029996849     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960712)64:1<209::AID-AJMG38>3.0.CO;2-P     Document Type: Article

References (59)

1. Ashley AE, Sherman SL (1995): Population dynamics of a meiotic/mitotic expansion model for the Fragile X syndrome. Am J Hum Genet 57:1414-1425.
2. Buyle S, Reyniers E, Vits L, De Boulle K, Handig I, Wuyts FLE, Deelen W, Halley DJJ, Oostra BA, Willems PJ (1993): Founder effect in a Belgian-Dutch fragile X population. Hum Genet 92: 269-272.
3. Chakravarti A (1992): Fragile X founder effect? Nat Genet 1:237-238.
4. Charlesworth B, Sniegowski P, Stephan W (1994): The evolutionary dynamics of repetitive DNA in eukaryotes. Nature 371:215-220.
5. Chiurazzi P, Destro-Bisol G, Genuardi M, Oostra BA, Spedini G, Neri G (1996): Extended gene diversity at the FMR1 locus and neighbouring CA repeats in a sub-Saharan population. Am J Med Genet, 64:216-219.
6. Deelen W, Bakker C, Halley DJJ, Oostra BA (1994): Conservation of CGG region in FMR1 gene in mammals. Am J Med Genet 51: 513-516.
7. Deka R, Jin L, Shriver MD, Yu LM, DeCroo S, Hundrieser J, Bunker CH, Ferrell RE, Chakraborty R (1995): Population genetics of dinucleotide (CA)(GT) polymorphism in world populations. Am J Hum Genet 56:461-474.
8. Di Rienzo A, Peterson AC, Garza JC, Valdes AM, Slatkin M, Freimer NB (1994): Mutational processes of simple-sequence repeat loci in human populations. Proc Natl Acad Sci 91:3166-3170.
9. Eichler EE, Holden JJA, Popovich BW, Reiss AL, Snow K, Thibodeau SN, Richards CS, Ward PA, Nelson DL (1994): Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nat Genet 8:88-94.
10. n nucleotide repeats form a stable tetrahelical structure. Proc Natl Acad Sci USA 91:4950-4954.
11. Fu YH, Kuhl DPA, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJMH, Holden JJA, Fenwick RG, Warren ST, Oostra BA, Nelson DL, Caskey CT (1991): Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67:1047-1058.
12. Gacy AM, Goellner G, Juranic N, Macura S, McMurray CT (1995): Trinucleotide repeats that expand in human disease form hairpin structures in vitro. Cell 81:533-540.
13. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J (1994): The 1993-1994 Genethon human genetic linkage map. Nat Genet 7: 246-249.
14. Hauge XY, Litt M (1993): A study of the origin of "shadow bands" seen when typing dinucleotide repeat polymorphisms by the PCR. Hum Mol Genet 2:411-415.
15. Hirst MC, Knight SJL, Christodoulou Z, Grewal PK, Fryns JP, Davies KE (1993): Origins of the fragile X syndrome mutation. J Med Genet 30:647-650.
16. Hirst MC, Grewal PK, Davies KE (1994): Precursor arrays for the triplet repeat expansion at the fragile X locus. Hum Mol Genet 3:1553-1560.
17. Jacobs PA, Bullman H, Macpherson J, Youings S, Rooney V, Watson A, Dennis NR (1993): Population studies of the fragile X: a molecular approach. J Med Genet 30:454-459.
18. Kang S, Jaworski A, Ohshima K, Wells RD (1995): Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E. coli. Nat Genet 10:213-218.
19. Kolehmainen K (1994): Population genetics of fragile X: a multiple allele model with variable risk of CGG repeat expansion. Am J Med Genet 51:428-435.
20. Kuhl DPA, Caskey CT (1993): Trinucleotide repeats and genome variation. Curr Opin Genet Develop 3:404-407.
21. Kunkel TA (1993): Slippery DNA and diseases. Nature 365:207-208.
22. Kunst CB, Warren ST (1994): Cryptic polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 77:853-861.
23. Levinson G, Gutman GA (1987): Slipped strand mispairing: A major mechanism for DNA sequence evolution. Mol Biol Evol 4:203-221.
24. Macpherson JN, Bullman H, Youings SA, Jacobs PA (1994): Insert size and flanking haplotype in fragile X and normal populations: Possible multiple origins for the fragile X mutation. Hum Mol Genet 3:399-405.
25. n expansion and recombination in a family with fragile X and DiGeorge syndrome. J Med Genet 32:236-239.
26. Mahtani MM, Willard HF (1993): A polymorphic X-linked tetranucleotide repeat locus displaying a high rate of new mutation: implications for mechanisms of mutation at short tandem repeat loci. Hum Mol Genet 2:431-437.
27. Malmgren H, Gustavson KH, Oudet C, Holmgren G, Pettersson U, Dahl N (1994): Strong founder effect for the fragile X syndrome in Sweden. Eur J Hum Genet 2:103-109.
28. Mandel JL (1994): Trinucleotide diseases on the rise. Nat Genet 7:453-455.
29. Montagnon M, Boygo A, Deluchat C, Jokic M, Chateau C, Taillandier A, Thomas F, Simon-Bouy B, Boue J, Serre JL, Boué A, Mornet E (1994): Transition from normal to premutated alleles in fragile X syndrome results from a multistep process. Eur J Hum Genet 2:125-131.
30. Mornet E, Chateau C, Taillandier A, Montagnon M, Simon-Bouy B, Serre JL, Boué A (1994): FRAXAC2 instability, (letter) Nat Genet 7:122-123.
31. Morris A, Morton NE, Collins A, Lawrence S, Macpherson JN (1995): Evolutionary dynamics of the FMR1 locus. Ann Hum Genet 59:283-289.
32. Morton NE, Macpherson JN (1992): Population genetics of the fragile X syndrome: Multiallelic model for the FMR1 locus. Proc Natl Acad Sci USA 89:4215-4217.
33. Nei M (1987): Molecular evolutionary genetics. New York: Columbia University Press.
34. Oudet C, Mornet E, Serre JL, Thomas F, Lentes-Zengerling S, Kretz C, Deluchat C, Tejada I, Boué J, Boué A, Mandel JL (1993a): Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggest that fragile X chromosomes are derived from a small number of founder chromosomes. Am J Hum Genet 52:297-304.
35. Oudet C, von Kiskull H, Nordstroem AM, Peippo M, Mandel JL (1993b): Striking founder effect for the fragile X syndrome in Finland. Eur J Hum Genet 1:181-189.
36. Richards RI, Sutherland GR (1994): Simple repeat DNA is not replicated simply. Nat Genet 6:114-116.
37. Richards RI, Holman K, Kozman H, Kremer E, Lynch M, Pritchard M, Yu S, Mulley J, Sutherland GR (1991): Fragile X syndrome: Genetic localization by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site. J Med Genet 28:818-823.
38. Richards RI, Holman K, Friendendend K, Kremer E, Hillen D, Staples A, Brown WT, Goonewardena P, Tarleton J, Schwartz C, Sutherland GR (1992): Evidence of founder chromosomes in fragile X syndrome. Nat Genet 1:257-260.
39. Richards RI, Kondo I, Holman K, Yamauchi M, Seki N, Kishi K, Staples A, Sutherland GR, Hori T (1994a): Haplotype analysis at the FRAXA locus in the Japanese population. Am J Med Genet 51:412-416.
40. Richards RI, Holman K, Friend K, Staples A, Sutherland GR, Oudet C, Biancalana V, Mandel JL (1994b): FRAXAC2 instability, (letter) Nat Genet 7:122.
41. Riggins GJ, Sherman SL, Oostra BA, Sutcliffe JS, Feitell D, Nelson DL, van Oost BA, Smits APT, Tamos FJ, Pfender E, Kuhl DPA, Caskey CT, Warren ST (1992): Characterization of a highly polymorphic dinucleotide repeat 150 kb proximal to the fragile X site. Am J Med Genet 43:237-243.
42. Rubinsztein DC, Amos W, Leggo J, Goodburn S, Jain S, Li SH, Margolis RL, Ross CA, Ferguson-Smith MA (1995): Microsatellite evolution-evidence for directionality and variation in rate between species. Nat Genet 10:337-343.
43. Schloetterer C, Tautz D (1992): Slippage synthesis of simple sequence DNA. Nucl Ac Res 20:211-215.
44. Sherman SL, Jacobs PA, Morton NE, Froster-Iskenius U, Howard-Peebles PN, Nielsen KB, Partington MW, Sutherland GR, Turner G, Watson M (1985): Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet 69:289-299.
45. Smits APT, Dreesen JCFM, Post JG, Smeets DFCM, de Die-Smulders C, Spaans-van der BiJl T, Govaerts LCP, Warren ST, Oostra BA, van Oost BA (1993): The fragile X syndrome: no evidence for any recent mutations. J Med Genet 30:94-96.
46. Snow K, Tester DJ, Kruckeberg KE, Schaid DJ, Thibodeau SN (1994): Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation. Hum Mol Genet 3: 1543-1551.
47. Tautz D, Renz M (1984): Simple sequences are ubiquitous repetitive components of eukaryotic genomes. Nucl Ac Res 12:4127-4138.
48. Tautz D, Trick M, Dover GA (1986): Cryptic simplicity in DNA is a major source of genetic variation. Nature 322:652-656.
49. Verkerk AJMH, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DPA, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang F, Eussen BE, van Ommen GJB, Blonden LAJ, Riggins GJ, Chastain JL, Kunst CB, Galjaard H, Caskey CT, Nelson DL, Oostra BA, Warren ST (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.
50. Watkins WS, Bamshad M, Jorde LB (1995): Population genetics of trinucleotide repeat polymorphism. Hum Mol Genet 4:1485-1491.
51. n polymorphism. Genomics 7:524-530.
52. Weber JL, Wong C (1993): Mutation of human short tandem repeats. Hum Mol Genet 2:1123-1128.
53. Weissenbach J, Gyapay G, Dib C, Vignal A, Morissette J, Millasseau P, Vaysseix G, Lathrop M (1992): A second-generation linkage map of the human genome. Nature 359:794-801.
54. Willems PJ (1994): Dynamic mutations hit double figures. Nat Genet 8:213-215.
55. Zhong N, Dobkin C, Brown WT (1993): A complex mutable polymorphism located within the fragile X gene. Nat Genet 5:248-252.
56. Zhong N, Ye L, Dobkin C, Brown WT (1994a): Fragile X founder chromosome effects: Linkage disequilibrium or microsatellite heterogeneity? Am J Med Genet 51:405-411.
57. Zhong N, Liu X, Gou S, Houck GE Jr, Li S, Dobkin C, Brown WT (1994b): Distribution of FMR1 and associated microsatellite alleles in a normal Chinese population. Am J Med Genet 51:417-422.
58. Zhong N, Dobkin C, Brown WT (1994c): FRAXAC2 instability, (letter) Nat Genet 7:123.
59. Zhong N, Yang W, Dobkin C, Brown WT (1995): Fragile X gene instability: Anchoring AGGs and linked microsatellites. Am J Hum Genet 57:351-361.