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Related Concept Videos

Epistasis01:39

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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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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.
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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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A Third MLPH Variant Causing Coat Color Dilution in Dogs.

Samantha L Van Buren1, Katie M Minor1,2, Robert A Grahn3

  • 1Department of Veterinary Clinical Sciences, University of Minnesota, St. Paul, MN 55108, USA.

Genes
|June 14, 2020
PubMed
Summary

A new melanophilin (MLPH) gene variant, d3, causes coat color dilution in dogs and other canids. This discovery expands understanding of canine coat genetics and aids in interpreting genetic testing results.

Keywords:
Canis lupuscoat color dilutioncoat color genescoat color phenotypesmammalian pigmentationmelanophilin

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Area of Science:

  • Genetics
  • Animal Science
  • Molecular Biology

Background:

  • Melanosome transport, regulated by the melanophilin (MLPH) gene, influences coat color dilution in various species.
  • In dogs, known MLPH gene variants (d1 and d2) at the D locus explain some coat color dilutions.
  • Some dogs exhibit coat color dilution not attributable to previously identified MLPH variants.

Purpose of the Study:

  • To identify novel genetic variants responsible for coat color dilution in dogs.
  • To characterize the inheritance pattern and frequency of newly discovered MLPH variants in canid populations.

Main Methods:

  • Investigated dogs with unexplained coat color dilution.
  • Identified a novel MLPH gene variant (c.667_668insC, designated d3) causing a frameshift and premature stop codon.
  • Genotyped dogs, wolves, and wolf-dog hybrids for the d3 allele and analyzed its association with the dilute phenotype.

Main Results:

  • A third MLPH variant (d3) was identified, leading to a frameshift mutation (p.His223Profs*41).
  • The d3 allele was found at low frequencies in various dog breeds, wolves, and wolf-dog hybrids.
  • Dilute phenotypes were associated with d1/d3 compound heterozygotes or d3 homozygotes, indicating recessive inheritance.

Conclusions:

  • The novel d3 MLPH allele contributes to coat color dilution in canids.
  • Genetic testing for coat color dilution should consider this new variant and potential allelic heterogeneity at the D locus or other loci.