FMR1 premutation allele (CGG)81 is stable in mice

European Journal of Human Genetics

Volumn 5, Issue 5, 1997, Pages 293-298

  Bontekoe, Carola J M ^a   De Graaff, Esther ^a   Nieuwenhuizen, Ingeborg M ^a   Willemsen, Rob ^a   Oostra, Ben A ^a  

^a ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

Author keywords

FMR1 gene; Fragile X syndrome; Premutation; Repeat stability; Transgenic mouse

Indexed keywords

REPETITIVE DNA;

ALLELE; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; FRAGILE X SYNDROME; GENE; GENETIC STABILITY; HUMAN; INHERITANCE; MEIOSIS; MITOSIS; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROMOTER REGION; TRANSGENIC MOUSE; TRINUCLEOTIDE REPEAT;

ANIMALIA; MUS MUSCULUS;

EID: 0030733023     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1159/000484780     Document Type: Article

References (33)

1. Turner G, Webb T, Wake S, Robinson H: Prevalence of fragile X syndrome. Am J Med Genet 1996;64:196-197.
2. Hagerman RJ: Physical and behavioral phenotype; in Hagerman RJ, Silverman AC (eds): Fragile X Syndrome: Diagnosis, Treatment and Research. Baltimore, Johns Hopkins University Press, 1996, pp 3-87.
3. Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP, Eussen BE, Van Ommen GJB, Blonden LAJ, Riggins GJ, Chastain JL, Kunst CB, Galjaard H, Caskey CT, Nelson DL, Oostra BA, Warren ST: Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991;65:905-914.
4. Vincent A, Heitz D, Petit C, Kretz C, Oberlé I, Mandel JL: Abnormal pattern detected in fragile-X patients by pulsed-field gel electrophoresis. Nature 1991;349:624-626.
5. Hansen RS, Gartler SM, Scott CR, Chen SH, Laird CD: Methylation analysis of CGG sites in the CpG island of the human FMR1 gene. Hum Mol Genet 1992;1:571-578.
6. Sutcliffe JS, Nelson DL, Zhang F, Pieretti M, Caskey CT, Saxe D, Warren ST: DNA methyl-ation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet 1992;1:397-400.
7. Devys D, Lutz Y, Rouyer N, Bellocq JP, Mandel JL: The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat Genet 1993;4:335-340.
8. Oberlé I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boue J, Bertheas MF, Mandel JL: Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991;252:1097-1102.
9. Fu YH, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, Holden JJ, Femvick R Jr, Warren ST, Oostra BA, Nelson DL, Caskey CT: Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell 1991; 67:1047-1058.
10. Malter HE, Iber JC, Willemsen R, de Graaff E, Tarleton JC, Leisti J, Warren ST, Oostra BA: Characterization of the full fragile X syndrome mutation in fetal gametes. Nat Genet 1997;15: 165-169.
11. Reyniers E, Vits L, De Boulle K, Van Roy B, Van Velzen D, de Graaff E, Verkerk AJMH, Jorens HZ, Darby JK, Oostra BA, Willems PJ: The full mutation in the FMR-1 gene of male fragile X patients is absent in their sperm. Nat Genet 1993;4:143-146.
12. Bakker CE, Verheij C, Willemsen R, Vanderhelm R, Oerlemans F, Vermey M, Bygrave A, Hoogeveen AT, Oostra BA, Reyniers E, Deboulle K, Dhooge R, Cras P, Van Velzen D, Nagels G, Martin JJ, Dedeyn PP, Darby JK, Willems PJ: Fmrl knockout mice: A model to study fragile X mental retardation. Cell 1994; 78:23-33.
13. Meijer H, De Graaff E, Merckx DML, Jong-bloed RJE, De Die-Smulders CEM, Engelen JJM, Fryns JP, Curfs PMG, Oostra BA: A deletion of 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome. Hum Mol Genet 1994;3:615-620.
14. Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boue J, Tommerup N, Van Der Hagen C, DeLozier-Blanchet C, Croquette MF, Gilgenkranz S, Jalbert P, Voelckel MA, Oberlé I, Mandel JL: Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 1991;325:1673-1681.
15. Nolin SL, Glicksman A, Houck GE, Brown WT, Dobkin CS: Mosaicism in fragile X affected males. Am J Med Genet 1994;51:509-512.
16. Wöhrle D, Hirst MC, Kennerknecht I, Davies KE, Steinbach P: Genotype mosaicism in fragile X fetal tissues. Hum Genet 1992;89:114-116.
17. Wöhrle D, Hennig I, Vogel W, Steinbach P: Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion. Nat Genet 1993;4:140-142.
18. Wöhrle D, Schwemmle S, Steinbach P: DNA methylation and triplet repeat stability: New proposals addressing actual questions on the CGG repeat of fragile X syndrome (letter to the editor). Am J Med Genet 1996;64:266-267.
19. Hergersberg M, Matsuo K, Gassmann M, Schaffner W, Luscher B, Rulicke T, Aguzzi A: Tissue-specific expression of a FMR1/beta-galactosidase fusion gene in transgenic mice. Hum Mol Genet 1995;4:359-366.
20. Hornstra IK, Nelson DL, Warren ST, Yang TP: High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome. Hum Mol Genet 1993;2: 1659-1665.
21. Shimizu M, Gellibolian R, Oostra BA, Wells RD: Cloning and characterization, and properties of plasmids containing CGG triplet repeats from the FMR-1 gene. J Mol Biol 1996;258: 614-626.
22. Deelen W, Bakker C, Halley D, Oostra BA: Conservation of CGG region in FMR1 gene in mammals. Am J Med Genet 1994;51:513-516.
23. Eichler EE, Hammond HA, Macpherson JN, Ward PA, Nelson DL: Population survey of the human FMR1 CGG repeat substructure suggests biased polarity for the loss of AGG interruption. Hum Mol Genet 1995;4:2199-2208.
24. Bingham PM, Scott MO, Wang S, McPhaul MJ, Wilson EM, Garbern JY, Merry DE, Fish-beck KH: Stability of an expanded trinucleotide repeat in the androgen receptor gene in transgenic mice. Nat Genet 1995;9:191-196.
25. Goldberg YP, Kalchman MA, Metzler M, Nasir J, Zeisler J, Graham R, Koide HB, O'Kusky J, Sharp CA, Jirik F, Hayden MR: Absence of disease phenotype and intergenerational stability of the CAG repeat in transgenic mice expressing the human Huntington disease transcript. Hum Mol Genet 1996;5:177-185.
26. Burright EN, Clark HB, Servadio A, Matilla T, Feddersen RM, Yunis WS, Duvick LA, Zoghbi HY, Orr HT: SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat. Cell 1995;82:937-948.
27. Gourdon G, Radvanyi F, Lia AS, Duros C, Blanche M, Abitbol M, Junien C, Hofmann-Radvanyi H: Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice. Nat Genet 1997; 15:190-192.
28. Monckton DG, Coolbaugh MI, Ashizawa KT, Siciliano MJ, Caskey CT: Hypermutable myotonic dystrophy CTG repeats in transgenic mice. Nat Genet 1997;15:193-196.
29. Mangiarini L, Sathasivam K, Mahal A, Mott R, Seller M, Bates GP: Instability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation. Nat Genet 1997;15:197-200.
30. Zhong N, Yang WH, Dobkin C, Brown WT: Fragile X gene instability: Anchoring AGGs and linked microsatellites. Am J Hum Genet 1995;57:351-361.
31. Kunst CB, Warren ST: Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 1994;77:853-861.
32. Eichler EE, Kunst CB, Lugenbeel KA, Ryder OA, Davison D, Warren ST, Nelson DL: Evolution of the cryptic FMR1 CGG repeat. Nat Genet 1995;11:301-308.
33. Wells RD: Molecular basis of genetic instability of triplet repeats. J Biol Chem 1996;271: 2875-2878.