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Related Concept Videos

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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Epistasis

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In addition to multiple alleles at the same locus influencing traits, numerous genes or alleles at different locations may interact and influence phenotypes in a phenomenon called epistasis. For example, rabbit fur can be black or brown depending on whether the animal is homozygous dominant or heterozygous at a TYRP1 locus. However, if the rabbit is also homozygous recessive at a locus on the tyrosinase gene (TYR), it will have an unshaded coat that appears white, regardless of its TYRP1...
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Rab Proteins01:14

Rab Proteins

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Rab proteins constitute the largest family of monomeric GTPases, of which 70 members are present in humans. Rab proteins and their effectors regulate consecutive stages of vesicle transport such as vesicle transport, docking, and fusion to the correct recipient membrane.
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Master Transcription Regulators02:23

Master Transcription Regulators

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Master transcription regulators are regulatory proteins that are predominantly responsible for regulating the expression of multiple genes. Often these genes work in concert to drive a  complex process. Activation of a master transcription regulator can lead to a cascade of transcriptional activation necessary for that outcome. These regulators can directly bind to the regulatory sequences of the various genes involved, or they can indirectly regulate transcription by binding to regulatory...
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Pleiotropy01:33

Pleiotropy

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Position-effect Variegation02:32

Position-effect Variegation

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In 1928, a German botanist Emil Heitz observed the moss nuclei with a DNA binding dye. He observed that while some chromatin regions decondense and spread out in the interphase nucleus, others do not. He termed them euchromatin and heterochromatin, respectively. He proposed that the heterochromatin regions reflect a functionally inactive state of the genome. It was later confirmed that heterochromatin is transcriptionally repressed, and euchromatin is transcriptionally active chromatin.
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Related Experiment Video

Updated: Jun 28, 2025

Determination of Tripartite Interaction between Two Monomers of a MADS-box Transcription Factor and a Calcium Sensor Protein by BiFC-FRET-FLIM Assay
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Determination of Tripartite Interaction between Two Monomers of a MADS-box Transcription Factor and a Calcium Sensor Protein by BiFC-FRET-FLIM Assay

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RFC1: Motifs and phenotypes.

V Delforge1, C Tard2, J-B Davion2

  • 1Inserm, U1172 - LilNCog - Lille Neuroscience & Cognition, CHU de Lille, University Lille, 59000 Lille, France.

Revue Neurologique
|April 16, 2024
PubMed
Summary
This summary is machine-generated.

Biallelic intronic expansions in the RFC1 gene are a common cause of late-onset ataxia. This review clarifies RFC1 gene variants, phenotypes, and diagnostic challenges for better understanding of this complex neurological disorder.

Keywords:
AtaxiaCANVAS syndromeDNA repeat expansionMutationPhenotypeRFC1

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Single Nucleotide Polymorphism-sensitive FISH Detection of Locus-specific Ribosomal RNA Transcription in Drosophila melanogaster
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Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Biallelic intronic expansions (AAGGG)exp in intron 2 of the RFC1 gene are a frequent cause of late-onset ataxia.
  • The RFC1 gene's associated phenotypes, neurological damage, and pathogenic variants are continually being updated.

Purpose of the Study:

  • To review the diverse motifs, genetic variants, and phenotypes linked to the RFC1 gene.
  • To provide insights into RFC1-associated disease, aiding molecular diagnosis and clinical understanding.

Main Methods:

  • Systematic literature search of PubMed for articles published between March 1st, 2019, and January 15th, 2024.
  • Review and synthesis of information on RFC1 gene motifs, variants, phenotypes, and diagnostic approaches.

Main Results:

  • RFC1 gene motifs and associated phenotypes exhibit significant heterogeneity.
  • This heterogeneity complicates molecular diagnosis, clinical screening, and investigation of RFC1-related disorders.

Conclusions:

  • A comprehensive understanding of RFC1 gene variations and phenotypes is crucial for accurate diagnosis.
  • Further research into diagnostic methods and the pathophysiology of RFC1 disease, including symptoms like cough, is warranted.