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Related Concept Videos

Cis-regulatory Sequences02:02

Cis-regulatory Sequences

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...
Cis-regulatory Sequences02:02

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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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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
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Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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Updated: May 9, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPES.

Charlotte Matton1,2, Julie Van De Velde1,2,3,4, Marieke De Bruyne1,2

  • 1Department of Biomolecular Medicine, Ghent University, Ghent, Belgium, ugent.be.

Human Mutation
|May 8, 2026
PubMed
Summary

Genetic variants in the FOXL2 gene cause blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). This study analyzes 413 FOXL2 variants in 864 patients, identifying 76 novel mutations and improving diagnostic understanding.

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09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Area of Science:

  • Genetics
  • Developmental Biology
  • Ophthalmology

Background:

  • Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is a rare autosomal dominant disorder.
  • It is characterized by eyelid malformations and primary ovarian insufficiency (POI).
  • Genetic variants in the FOXL2 gene are the primary cause of BPES.

Purpose of the Study:

  • To comprehensively analyze FOXL2 variants associated with BPES.
  • To expand the knowledge of FOXL2 gene pathogenicity.
  • To improve diagnostic accuracy and genetic counseling for BPES patients.

Main Methods:

  • Collected 413 unique FOXL2 genetic variants from clinical testing and literature (2001-2024).
  • Categorized variants using ACMG/AMP classifications.
  • Analyzed variants in 864 index patients.

Main Results:

  • Identified 413 unique FOXL2 variants, including 76 novel ones, in 864 patients.
  • 87% of patients had coding FOXL2 sequence variants.
  • Pathogenic polyalanine expansions in FOXL2 accounted for 24% of mutations.

Conclusions:

  • This study presents the largest dataset of FOXL2 variants for BPES to date.
  • Findings enhance understanding of the molecular spectrum of FOXL2-associated disorders.
  • Improved variant classification aids in BPES diagnosis and genetic counseling.