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Background and Environment Affect Phenotype02:27

Background and Environment Affect Phenotype

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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.
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A complementation test is a simple cross to identify whether the two mutations are located on the same gene or different genes. It was first performed by Edward Lewis in the 1940s while working on fruit flies. He developed the test to identify the location and arrangement of different mutations on chromosomes.
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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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Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
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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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In Vivo Modeling of the Morbid Human Genome using Danio rerio
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Enhancer mutations and phenotype modularity.

Christopher T Gordon1, Stanislas Lyonnet1

  • 1University Paris Descartes-Sorbonne, Paris Cité, Institut Imagine, INSERM U781, Hôpital Necker-Enfants Malades, Paris, France.

Nature Genetics
|December 28, 2013
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Summary
This summary is machine-generated.

A new study found mutations in regulatory DNA that disable a key developmental enhancer. This disruption leads to pancreatic agenesis, a rare condition where the pancreas fails to develop.

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Area of Science:

  • Genetics and Developmental Biology
  • Human Disease Mechanisms

Background:

  • Identifying disease-causing mutations in regulatory elements is challenging.
  • Few cis-regulatory mutations linked to human diseases have been discovered.

Discussion:

  • This study pinpoints specific cis-regulatory mutations impacting a crucial developmental enhancer.
  • These mutations abolish enhancer activity, leading to developmental defects.

Key Insights:

  • Discovery of cis-regulatory mutations causing pancreatic agenesis.
  • Demonstration of a direct link between enhancer malfunction and a specific human developmental disorder.

Outlook:

  • Potential for identifying other disease-related regulatory mutations.
  • Implications for understanding gene regulation in development and disease.