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Related Concept Videos

X-Inactivation01:58

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The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
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In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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Fragile x premutation.

Flora Tassone1, Paul J Hagerman1, Randi J Hagerman2

  • 1Department of Biochemistry and Molecular Medicine, UC Davis Medical Center, Sacramento, CA, USA ; Medical Investigation of Neurodevelopmental Disorders (MIND) Institute University of California, Davis, Medical Center, Sacramento, CA, USA.

Journal of Neurodevelopmental Disorders
|August 30, 2014
PubMed
Summary
This summary is machine-generated.

Fragile X gene (FMR1) premutations cause a spectrum of disorders via RNA toxicity, distinct from fragile X syndrome (FXS). Increased awareness and research are crucial for developing targeted treatments for these conditions.

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Area of Science:

  • Genetics
  • Neuroscience
  • Molecular Biology

Background:

  • Fragile X gene (FMR1) full mutations cause fragile X syndrome (FXS).
  • Smaller FMR1 premutations (55-200 repeats) are linked to diverse clinical issues, including neurodevelopmental, ovarian, mood, psychiatric, and neurodegenerative disorders.
  • The molecular mechanism for premutation disorders involves toxic expanded CGG-repeat mRNA (RNA toxicity), differing from FXS's FMR1 protein deficiency.

Purpose of the Study:

  • To address the lack of awareness among clinicians regarding FMR1 premutation disorders.
  • To consolidate and present advances in understanding the clinical spectrum, assessment tools, and molecular mechanisms of FMR1 premutation disorders.
  • To support the development of targeted treatments for FMR1 premutation carriers.

Main Methods:

  • Convened an international conference in Perugia, Italy (June 2013) focusing on FMR1 premutation disorders.
  • Solicited papers from conference attendees to broadly cover meeting topics.
  • Compiled research on clinical involvement, assessment refinements, and molecular/cellular mechanisms.

Main Results:

  • The conference highlighted an expanding range of clinical involvement associated with FMR1 premutations.
  • Refinements in assessments and tools for characterizing premutation carrier involvement were discussed.
  • Significant advances were presented in understanding the pathogenic molecular and cellular mechanisms underlying premutation disorders.

Conclusions:

  • FMR1 premutation disorders represent a significant health concern with a high prevalence.
  • There is a critical need to increase clinical awareness and understanding of the distinction between FMR1 premutation disorders and FXS.
  • Advances presented support ongoing efforts to develop novel therapeutic strategies for FMR1 premutation-associated conditions.