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Related Concept Videos

Sex-linked Disorders01:43

Sex-linked Disorders

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Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
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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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Among mammals, the gender of an organism is determined by the sex chromosomes. Humans have two sex chromosomes, X and Y. Every human diploid cell has 22 pairs of autosomes and one pair of sex chromosomes. A human female has two X chromosomes, while a male has one X chromosome and one Y chromosome.
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In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.  
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Related Experiment Video

Updated: Feb 22, 2026

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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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 syndrome.

Randi J Hagerman1,2, Elizabeth Berry-Kravis3, Heather Cody Hazlett4

  • 1MIND Institute, UC Davis Health, University of California, Davis, 2826 50th Street, Sacramento, California 95817, USA.

Nature Reviews. Disease Primers
|September 30, 2017
PubMed
Summary
This summary is machine-generated.

Fragile X syndrome (FXS), a leading cause of inherited intellectual disability, stems from FMR1 gene silencing. Loss of fragile X mental retardation 1 protein (FMRP) disrupts neuroplasticity, offering therapeutic targets.

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TMS: Using the Theta-Burst Protocol to Explore Mechanism of Plasticity in Individuals with Fragile X Syndrome and Autism
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TMS: Using the Theta-Burst Protocol to Explore Mechanism of Plasticity in Individuals with Fragile X Syndrome and Autism
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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Fragile X syndrome (FXS) is the primary inherited cause of intellectual disability and autism spectrum disorder.
  • FXS is characterized by CGG trinucleotide repeats in the FMR1 gene, leading to gene silencing and loss of fragile X mental retardation 1 protein (FMRP).
  • FMRP plays a crucial role in regulating mRNA translation, impacting neuronal development and synaptic plasticity.

Purpose of the Study:

  • To summarize the current understanding of Fragile X syndrome (FXS) pathophysiology.
  • To highlight the role of FMRP in gene regulation and neuronal function.
  • To identify therapeutic targets for FXS based on FMRP's function.

Main Methods:

  • Review of existing literature on FXS genetics and FMRP function.
  • Analysis of molecular mechanisms underlying FMRP's role in mRNA translation.
  • Examination of neurobiological findings in FXS animal models.

Main Results:

  • FMRP regulates hundreds of mRNAs critical for synaptic development and maintenance.
  • Dysregulation of FMRP leads to impaired neuroplasticity and imbalanced neuronal circuits in FXS.
  • Growing knowledge of FMRP-regulated proteins has identified potential therapeutic intervention points.

Conclusions:

  • FXS pathophysiology involves FMRP deficiency, impacting neuronal development and function.
  • Understanding FMRP's regulatory network is key to developing effective FXS therapies.
  • Several therapeutic strategies targeting FMRP pathways are advancing to clinical trials.