Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Reverse mutations in the fragile X syndrome

W T Brown1, G E Houck, X Ding

  • 1New York State Institute for Basic Research in Developmental Disabilities, Staten Island, New York 10314, USA.

American Journal of Medical Genetics
|August 9, 1996
PubMed
Summary

Fragile X premutation carriers can experience repeat size reversals. Three females inherited normal FMR1 alleles from their premutation carrier mothers, indicating a rare reversion event.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

[High RNF7 expression enhances PD-1 resistance of non-small cell lung cancer cells by promoting CXCL1 expression and myeloid-derived suppressor cell recruitment <i>via</i> activating NF-κB signaling].

Nan fang yi ke da xue xue bao = Journal of Southern Medical University·2024
Same author

Canadian Surgery Forum.

Canadian journal of surgery. Journal canadien de chirurgie·2022
Same author

[Summary of the 2021 Annual Academic Conference of the Chinese Burn Association].

Zhonghua shao shang yu chuang mian xiu fu za zhi·2022
Same author

Commentary on a combined approach to the problem of developing biomarkers for the prediction of spontaneous preterm labor that leads to preterm birth.

Placenta·2020
Same author

Characteristics and roles of severe acute respiratory syndrome coronavirus 2-specific antibodies in patients with different severities of coronavirus 19.

Clinical and experimental immunology·2020
Same author

Cytomegalovirus infection as an underestimated trigger for checkpoint inhibitor-related pneumonitis in lung cancer: a retrospective study.

Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico·2020

Area of Science:

  • Genetics and Genomics
  • Molecular Biology
  • Human Genetics

Background:

  • Fragile X syndrome is a common inherited cause of intellectual disability.
  • Premutation alleles of the FMR1 gene are associated with an increased risk of Fragile X-associated disorders.
  • Understanding the mechanisms of repeat instability is crucial for genetic counseling.

Observation:

  • Three females were identified with apparent reversal of Fragile X premutations.
  • These individuals inherited a Fragile X chromosome from their premutation carrier mothers but possessed normal-sized FMR1 repeat alleles.
  • Observed repeat size changes ranged from 95 to 35, 145 to 43, and 82 to 33 in the three families.

Findings:

  • Haplotype analysis confirmed inheritance of the Fragile X chromosome but with normal FMR1 repeat alleles, suggesting a reversion event.

Related Experiment Videos

  • Mutations in nearby microsatellites (FRAXAC2 and DXS548) were observed in one family, while the other two showed only FMR1 repeat changes.
  • The estimated frequency of such revertants is 1% or less of premutation carrier offspring.

    • Implications:

    • Differing mutational mechanisms, such as gene conversion or DNA replication slippage, may underlie these observed reversions.
    • The findings highlight the complexity of Fragile X premutation instability.
    • Women identified as Fragile X carriers by linkage analysis should undergo retesting with direct DNA analysis to confirm allele size.