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Cis-regulatory Sequences02:02

Cis-regulatory Sequences

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Cis-regulatory sequences are short fragments of non-coding DNA that are present on the same chromosomes as the genes that they regulate. These fragments serve as binding sites for transcriptional regulators, proteins that are responsible for controlling gene transcription and differential gene expression across cell types in eukaryotes. Cis-regulatory sequences can be close to the gene of interest or thousands of bases away in the DNA sequence; however, those sequences that are further away are...
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DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
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Related Experiment Video

Updated: Feb 5, 2026

Flow-sorting and Exome Sequencing of the Reed-Sternberg Cells of Classical Hodgkin Lymphoma
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Exome sequencing reveals a novel

Yi You1, Xiaodong Wang2, Shan Li1

  • 1Department of Medical Genetics, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100005, P.R. China.

Experimental and Therapeutic Medicine
|September 14, 2018
PubMed
Summary
This summary is machine-generated.

Researchers identified a new MFN2 gene mutation causing severe Charcot-Marie-Tooth (CMT) disease in a Chinese family. This discovery expands understanding of CMT2A and aids future genetic counseling and treatments.

Keywords:
Charcot-Marie-Tooth 2AMFN2bioinformatics analysisexome sequencingrestriction fragment length polymorphism

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Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Charcot-Marie-Tooth (CMT) comprises inherited peripheral neuropathies linked to over 80 genes.
  • Mutations in MFN2, crucial for mitochondrial fusion and apoptosis, are associated with the axonal neuropathy CMT2A.

Purpose of the Study:

  • To investigate the genetic basis of severe CMT in a large Chinese family.
  • To identify novel mutations and expand the known spectrum of CMT2A.

Main Methods:

  • Clinical and electrophysiological examinations of 13 family members.
  • Whole-exome sequencing, Sanger sequencing, and restriction fragment length polymorphism analysis.
  • Bioinformatics analysis to assess mutation pathogenicity.

Main Results:

  • A novel pathogenic mutation, c.1190G>C; p.(R397P), in the MFN2 gene was identified in the proband.
  • This mutation co-segregated with the CMT phenotype within the family.
  • The mutation alters MFN2's coiled-coil domain, potentially impacting its biological function.

Conclusions:

  • A novel pathogenic MFN2 mutation expands the phenotypic and mutational spectrum of CMT2A.
  • Findings support genetic counseling, prenatal diagnosis, and targeted therapies for affected families.