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At what rate do new premutation alleles arise at the fragile X locus?

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References

  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. Chonchaiya W, Schneider A, Hagerman RJ (2009) Fragile X: a family of disorders. Adv Pediatr 56:165–186

  3. Cronister A, Schreiner R, Wittenberger M, Amiri K, Harris K, Hagerman RJ (1991) Heterozygous fragile X female: historical, physical, cognitive, and cytogenetic features. Am J Med Genet 38:269–274

  4. Cronister A, Teicher J, Rohlfs EM, Donnenfeld A, Hallam S (2008) Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis. Obstet Gynecol 111:596–601

  5. Curlis Y, Zhang C, Holden JJA, Loesch PKKD, Mitchell RJ (2005) Haplotype study of intermediate-length alleles at the fragile X (FMR1) gene: ATL1, FMRb, and microsatellite haplotypes differ from those found in common-size FMR1 alleles. Hum Biol 77:137–151

  6. Eichler EE, Holden JJA, Popvich BW, Reiss AL, Snow K, Thibodeau SN, Richards CS, Ward PA, Nelson DL (1994) Length of uninterrupted CGG repeats determines the instability of the FMR1 gene. Nat Genet 8:88–94

  7. Eichler EE, Hammond HA, Macpherson JN, Ward PA, Nelson DL (1995) Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruptions. Hum Mol Genet 4:2199–2208

  8. Hagerman PJ (2008) The fragile X prevalence paradox. J Med Genet 45:498–499

  9. 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

  10. 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. doi:10.1002/ajmg.1320510425

  11. Morris A, Morton NE, Collins A, Lawrence S, Macpherson JN (1995) Evolutionary dynamics of the FMR1 locus. Ann Hum Genet 59:283–289

  12. 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

  13. Nolin SL, Glicksman A, Ding X, Ersalesi N, Brown WT, Sherman SL, Dobkin C (2011) Fragile X analysis of 1112 prenatal samples from 1991 to 2010. Prenat Diagn 31:925–931

  14. Otsuka S, Sakamoto Y, Siomi H, Itakura M, Yamamoto K, Matumoto H, Sasaki T, Kato N, Nanba E (2010) Fragile X carrier screening and FMR1 allele distribution in the Japanese population. Brain Dev 32:110–114

  15. Richards RI, Holman K, Friend K, Kremer E, Hillen D, Staples A, Brown WT et al (1992) Evidence of founder chromosomes in fragile X syndrome. Nat Genet 1(4):257–260. doi:10.1038/ng0792-257

  16. Sherman SL, Morton NE, Jacobs PA, Turner G (1984) The marker (X) syndrome: a cytogenetic and genetic analysis. Ann Hum Genet 48:21–37

  17. Sherman SL, Jacobs PA, Morton NE, Froster-Iskenius U, Howard-Peebles PN, Nielsen KB, Partington MW et al (1985) Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet 69:289–299

  18. Smits A, Smeets D, Hamel B, Dreesen J, van Oost B (1992) High prevalence of the fra(X) syndrome cannot be explained by a high mutation rate. Am J Med Genet 43:345–352

  19. Sved JA, Laird CD (1990) Population genetic consequences of the fragile-X syndrome, based on the X-inactivation imprinting model. Am J Hum Genet 46:443–451

  20. Vogel F, Motulsky AG (1986) Human Genetics, Vol 2. Springer, Berlin

  21. Vogel F, Krüger J, Brøndum Nielsen K, Fryns JP, Schindler D, Schinzel A, Schmidt A, Schwinger E (1985) Recurrent mutation pressure does not explain the prevalence of the marker X syndrome. Hum Genet 71:1–6

  22. Vogel F, Crusio WE, Kovac C, Fryns JP, Freund M (1990) Selective advantage of fra (X) heterozygotes. Hum Genet 86:25–32

  23. Winter RM (1987) Population genetics implications of the premutation hypothesis for the generation of the fragile X mental retardation gene. Hum Genet 75:269–271

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Acknowledgments

We are grateful to Amy Cronister for sharing additional data on the size distribution of the intermediate alleles initially reported in Cronister et al. (2008). This research was supported by National Institutes of Health (NIH) grants HD002274 and GM077464. DPG was supported in part by the Jaconnette L. Tietze Young Scientist Award.

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Correspondence to Diane P. Genereux.

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Genereux, D.P., Laird, C.D. At what rate do new premutation alleles arise at the fragile X locus?. Hum Genet 132, 715–717 (2013). https://doi.org/10.1007/s00439-013-1291-6

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Keywords

  • Mutation Rate
  • High Mutation Rate
  • Intermediate Allele
  • Premutation Allele
  • Mutation Rate Estimate