L'angolo del genetista
La sindrome dell’X fragile: recenti acquisizioni e prospettive future
SERENA VATTA, ELENA BEVILACQUA, ANNA BELGRANO, MARCELLO MORGUTTI, ANTONIO AMOROSO
Servizio di Genetica, IRCCS “Burlo Garofolo”, Trieste
Cattedra di Genetica, Dipartimento di Scienze della Riproduzione e dello Sviluppo, Università di Trieste
Ottobre 2000 - pagg. 522 -525
Parole chiave
Classificazione MeSH
Bibliografia
1. Warren ST, Nelson DL. Advance in molecular
analysis of fragile X syndrome. J Am
Med Assoc 1994;271:534-42.
2. Kremer EJ, et al. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 1991;252:1711-4.
3. Yu S, et al. Fragile X genotipe characterized by an unstable region of DNA. Science 1991;252:1179-81
4. Verkerek AJMH, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting lengh variation in fragile X syndrome. Cell 1991;65:905-14.
5. Oberle I, et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991;252:1097- 102.
6. Ashley CT, et al. Human and murine FMR- 1: alternative splicing and translational downstream of the CGG-repeat. Nature Genet 1993;4:244-51.
7. Eichler EE, et al. Fine structure of the human FMR1 gene. Hum Mol Genet 1993; 2:1147-53.
8. Fu YH, et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991;67:1047-58.
9. Eichler EE, et al. Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nature Genet 1994;8:88-94.
10. Kunst CB, Warren ST. Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 1994; 77:853-61.
11. Snow K, et al. Analysis of CGG sequence at the FMR1 locus in fragile X families and in the general population. Am J Hum Genet 1993;53:1217-28.
12. Snow K, et al. Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation. HumMol Genet 1994;3:1543-51.
13. Feng Y, et al. Quantitative comparison of FMR1 gene expression in normal and premutation alleles. Am J Hum Genet 1995;56:106- 13.
14. Sherman SL, et al. The marker X syndrome: a cytogenetic and genetic analysis. Ann Hum Genet 1984;48:21-37.
15. Sherman SL, et al. Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet 1985;69:289-99.
16. Reyniers E, et al. The full mutation of the FMR1 gene of male fragile X patients is absent in their sperm. Nat Genet 1993;4:143-6.
17. Feng Y, et al. Translational suppression by trinucleotide repeat expansion at FMR1. Science 1995;268:731-4.
18. Hinds HL, et al. Tissue specific expression of FMR-1 provide evidence for a functional role in fragile X syndrome. Nature Genet 1993;3:36-43.
19. Ashley JT, et al. FMR1 protein: conserved RNP family domains and selective RNA binding. Science 1993;262:563-6.
20. Siomi H, et al. The protein product of the fragile X gene, FMR1, has characteristics of an RNA- binding protein. Cell 1993;74:298.
21. Eberhart DE, et al. The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals. Hum Mol Genet 1996; 5:1083-91.
22. Feng Y, et al. Fragile X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic ribosomes. J Neurosci 1997;17:1539-47.
2. Kremer EJ, et al. Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n. Science 1991;252:1711-4.
3. Yu S, et al. Fragile X genotipe characterized by an unstable region of DNA. Science 1991;252:1179-81
4. Verkerek AJMH, et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting lengh variation in fragile X syndrome. Cell 1991;65:905-14.
5. Oberle I, et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991;252:1097- 102.
6. Ashley CT, et al. Human and murine FMR- 1: alternative splicing and translational downstream of the CGG-repeat. Nature Genet 1993;4:244-51.
7. Eichler EE, et al. Fine structure of the human FMR1 gene. Hum Mol Genet 1993; 2:1147-53.
8. Fu YH, et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991;67:1047-58.
9. Eichler EE, et al. Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nature Genet 1994;8:88-94.
10. Kunst CB, Warren ST. Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 1994; 77:853-61.
11. Snow K, et al. Analysis of CGG sequence at the FMR1 locus in fragile X families and in the general population. Am J Hum Genet 1993;53:1217-28.
12. Snow K, et al. Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation. HumMol Genet 1994;3:1543-51.
13. Feng Y, et al. Quantitative comparison of FMR1 gene expression in normal and premutation alleles. Am J Hum Genet 1995;56:106- 13.
14. Sherman SL, et al. The marker X syndrome: a cytogenetic and genetic analysis. Ann Hum Genet 1984;48:21-37.
15. Sherman SL, et al. Further segregation analysis of the fragile X syndrome with special reference to transmitting males. Hum Genet 1985;69:289-99.
16. Reyniers E, et al. The full mutation of the FMR1 gene of male fragile X patients is absent in their sperm. Nat Genet 1993;4:143-6.
17. Feng Y, et al. Translational suppression by trinucleotide repeat expansion at FMR1. Science 1995;268:731-4.
18. Hinds HL, et al. Tissue specific expression of FMR-1 provide evidence for a functional role in fragile X syndrome. Nature Genet 1993;3:36-43.
19. Ashley JT, et al. FMR1 protein: conserved RNP family domains and selective RNA binding. Science 1993;262:563-6.
20. Siomi H, et al. The protein product of the fragile X gene, FMR1, has characteristics of an RNA- binding protein. Cell 1993;74:298.
21. Eberhart DE, et al. The fragile X mental retardation protein is a ribonucleoprotein containing both nuclear localization and nuclear export signals. Hum Mol Genet 1996; 5:1083-91.
22. Feng Y, et al. Fragile X mental retardation protein: nucleocytoplasmic shuttling and association with somatodendritic ribosomes. J Neurosci 1997;17:1539-47.