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Related Concept Videos

Mutations01:39

Mutations

Overview
Gastrulation01:56

Gastrulation

Gastrulation establishes the three primary tissues of an embryo: the ectoderm, mesoderm, and endoderm. This developmental process relies on a series of intricate cellular movements, which in humans transforms a flat, “bilaminar disc” composed of two cell sheets into a three-tiered structure. In the resulting embryo, the endoderm serves as the bottom layer, and stacked directly above it is the intermediate mesoderm, and then the uppermost ectoderm. Respectively, these tissue strata will form...
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Background and Environment Affect Phenotype02:27

Background and Environment Affect Phenotype

Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...

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Related Experiment Video

Updated: Jun 14, 2026

Shifting Zebrafish Lethal Skeletal Mutant Penetrance by Progeny Testing
08:39

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Forward genetics combined with unsupervised classifications identified zebrafish mutants affecting biliary system

Divya Jyoti Singh1, Kathryn M Tuscano1, Amrhen L Ortega1

  • 1Department of Inflammation and Immunity, Lerner Research Institute of Cleveland Clinic, Cleveland, OH, 44195, USA.

Developmental Biology
|May 10, 2024
PubMed
Summary

Researchers identified 24 new genes crucial for forming the intrahepatic biliary network using zebrafish models and computational analysis. These findings advance understanding of congenital cholestatic liver diseases.

Keywords:
Biliary atresiaBranching morphogenesisCholestatic liver diseaseForward geneticsIntrahepatic biliary networkMachine learning

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Area of Science:

  • Genetics
  • Developmental Biology
  • Computational Biology

Background:

  • Congenital cholestatic liver diseases arise from impaired biliary network formation, but causative genes remain largely unknown.
  • Understanding the genetic basis of biliary system development is critical for diagnosing and treating these liver conditions.

Purpose of the Study:

  • To identify novel genes involved in intrahepatic biliary network formation.
  • To classify genetic mutations affecting biliary development using computational methods.
  • To provide new genetic and computational tools for studying cholestatic liver diseases.

Main Methods:

  • Conducted a zebrafish forward genetic screen to identify mutants with impaired biliary network formation.
  • Utilized computational network structure analysis and unsupervised clustering algorithms.
  • Performed complementation tests to identify distinct genes.

Main Results:

  • Identified 24 new zebrafish mutants affecting 24 different genes crucial for biliary network formation.
  • Classified mutants into three distinct classes based on computational analysis of network phenotypes.
  • Observed that most mutations were viable, with persistent biliary phenotypes into adulthood, establishing valuable models for cholestatic liver disease research.

Conclusions:

  • This study provides a powerful combination of genetic and computational approaches to uncover genes regulating biliary system development.
  • The identified genes and mutant models offer new avenues for understanding the molecular pathways underlying biliary malformation and cholestatic liver diseases.