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Questions and Answers
ICF Syndrome results from mutations in the gene DNMT3B, which is responsible for methylating ______ DNA.
centromeric
Symptoms of ICF Syndrome include facial dysmorphism, immune deficiency, and centromeric instability in chromosomes 1, 9, and ______.
16
The loss of DNA methylation disrupts centromere organization, leading to instability during ______ division.
cell
ICF Syndrome interferes with gene expression of normal lymphocyte ______ signaling.
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The sequence in one of the DNA METHYLTRANSFERASE genes reduces the ______ of centromeres.
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What is a key consequence of reduced methylation of centromeric DNA in ICF Syndrome?
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Which chromosomes are primarily affected by centromeric instability in individuals with ICF Syndrome?
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What role does the DNMT3B gene play in ICF Syndrome?
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What immune-related symptom is characteristic of ICF Syndrome?
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How does ICF Syndrome affect gene expression in lymphocytes?
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What is the primary function of the DNMT3B gene in relation to ICF Syndrome?
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Which of the following consequences is a direct result of mutations in DNMT3B for individuals with ICF Syndrome?
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How does ICF Syndrome specifically affect centromere organization?
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What symptom is NOT typically associated with ICF Syndrome?
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Which aspect of gene expression is directly impaired in lymphocytes due to ICF Syndrome?
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Study Notes
ICF Syndrome
- ICF Syndrome (Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome) is caused by mutations in the DNMT3B gene.
- DNMT3B is responsible for methylating centromeric DNA.
- Symptoms include facial abnormalities, compromised immune function, and instability in chromosomes 1, 9, and 16.
- The lack of DNA methylation disrupts the structure of centromeres, leading to instability during cell division.
- Mutations in DNMT3B reduce methylation of centromeres, affecting gene expression of normal lymphocyte signaling.
ICF Syndrome
- Caused by mutations in the DNMT3B gene, responsible for DNA methylation at centromeres.
- Characterized by facial abnormalities, weakened immune system, and instability of chromosomes 1, 9, and 16.
- Reduced methylation at centromeres disrupts their structure, leading to improper chromosome segregation during cell division.
- A defect in one of the DNA methyltransferase genes results in reduced methylation of centromeric DNA interfering with normal lymphocyte signaling and gene expression.
ICF Syndrome
- ICF Syndrome, or Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome, is caused by mutations in the DNMT3B gene.
- DNMT3B is responsible for methylating centromeric DNA.
- The syndrome presents with facial dysmorphism, immune deficiency, and centromeric instability in chromosomes 1, 9, and 16.
- The loss of DNA methylation disrupts centromere organization.
- This disruption leads to instability during cell division.
- This instability can interfere with proper chromosome segregation, potentially contributing to the observed immune deficiency.
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Description
Explore the details of ICF Syndrome, a genetic disorder caused by mutations in the DNMT3B gene. This quiz covers symptoms, impacts on immune function, and the consequences of disrupted DNA methylation on chromosome stability. Test your knowledge about the genetic basis and clinical manifestations of this syndrome.
