Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles

Cell

Volumn 77, Issue 6, 1994, Pages 853-861

  Kunst, Catherine B ^a   Warren, Stephen T ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; DNA REPLICATION; DNA SEQUENCE; FRAGILE X SYNDROME; GENETIC LINKAGE; HUMAN; PRIORITY JOURNAL;

EID: 0028360849     PISSN: 00928674     EISSN: None     Source Type: Journal    
DOI: 10.1016/0092-8674(94)90134-1     Document Type: Article

References (52)

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3. FMR1 protein Conserved RNP family domains and selective RNA binding
4. Molecular basis of myotonic dystrophy expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member
5. A specific mismatch repair event protects mammalian cells from loss of 5-methylcytosine
6. Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test
7. Identification of an origin of bidirectional DNA replication in mammalian chromosomes
8. Fragile X founder effect?
9. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I
10. Dissociation of the CTG repeat expansion and the 1-kb Alu insertion within the myotonic dystrophy (DM) protein kinase gene in a Nigerian DM family
11. Expression of the Drosophilia type II topoisomerase is developmentally regulated
12. Variation of the CGG repeat at the fragile X site results in genetic instability resolution of the Sherman paradox
13. An unstable triplet repeat in a gene related to myotonic muscular dystrophy
14. Induction of sister chromatid exchanges at common fragile sites
15. High resolution methylation analysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome
16. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
17. Chromosomal replication initiates and terminates at random sequences but at regular intervals in the ribosomal DNA of Xenopus early embryos
18. Origin of the expansion mutation in myotonic dystrophy
19. Characterization of a highly unstable mouse minisatellite locus evidence for somatic mutation during early development
20. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
21. Unstable expansion of a CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DPRLA)
22. n
23. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
24. The Huntington's disease candidate region exhibits many different haplotypes
25. Myotonic dystrophy mutation an unstable CTG repeat in the 3′ untranslated region of the gene
26. Evidence that methylation of the FMR-1 locus is responsible for variable phenotype expression of the fragile X syndrome
27. Population genetics of the fragile-X syndrome multiallelic model for the FMR1 locus
28. Dentatorubral pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
29. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome
30. Expansion of an unstable CAG repeat in spinocerebellar ataxia type I
31. Linkage disequilibrium between the fragile X mutation and two closely linked CA repeats suggests that fragile X chromosomes are derived from a small number of founder chromosomes
32. Absence of expression of the FMR-1 gene in fragile X syndrome
33. Dynamic mutations a new class of mutations causing human disease
34. Simple repeat DNA is not replicated simply
35. Fragile X syndrome evidence of founder chromosomes
36. Mutational prevalence of fragile X premutations in 10,624 females from the general population
37. The protein product of the fragile X gene FMR1 has characteristics of an RNA-binding protein
38. The fragile X syndrome no evidence for any recent mutations
39. Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population
40. Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families
41. DNA methylation represses FMR-1 transcription in fragile X syndrome
42. Cytological mapping of the human glucose-6-phosphate dehydrogenase gene distal to the fragile X suggests a high rate of meiotic recombination across this site
43. Preferential DNA secondary structure mutagenesis in the lagging strand of replication in E coli
44. Greater susceptibility to mutations in lagging strand of DNA replication in Escherichia coli than in leading strand
45. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
46. Advances in molecular analysis of fragile X syndrome
47. n polymorphisms
48. Genotype mosaicism in fragile X fetal tissues
49. Mitotic stability of fragile X mutations in differentiated cells indicated early post-conceptional trinucleotide repeat expansion
50. Fragile X syndrome unique genetics of the heritable unstable element