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Localizing the X-linked orange colour phenotype using feline resource families
R A Grahn1, B M Lemesch, L V Millon
1Department of Population Health and Reproduction, University of California at Davis, Davis, CA 95616, USA.
Animal Genetics
|January 27, 2005
Summary
The orange coat color locus in domestic cats (O) was mapped on the X chromosome. Linkage analysis excluded nine microsatellites, suggesting a location near the centromere (Xcen).
Area of Science:
- Genetics
- Mammalian coat color genetics
- Feline genetics
Background:
- Many mammalian coat color genes are conserved, but the domestic cat's orange locus (O) is unique.
- The orange locus undergoes X-inactivation, leading to tortoiseshell patterns in heterozygous females.
- Orange locus has not been localized on the feline X chromosome.
Purpose of the Study:
- To localize the orange coat color locus on the domestic cat X chromosome.
- To analyze linkage between the orange locus and X-linked microsatellites.
- To establish reference pedigrees for future feline genetic studies.
Main Methods:
- Analysis of 10 feline-derived X-linked microsatellites in two large pedigrees.
- Segregation analysis of the orange phenotype within these pedigrees.
- Linkage and exclusion analyses to determine the locus's chromosomal location.
Main Results:
- Linkage analyses excluded nine informative X-linked microsatellites from close association with the orange locus.
- Exclusion analyses suggested a possible location for the orange locus in a 14 cM region near the X centromere (Xcen).
- Recombination rates in the studied pedigrees were reduced compared to other feline families.
Conclusions:
- The orange locus (O) is localized to the feline X chromosome, likely near Xcen.
- The established pedigrees provide a valuable resource for future domestic cat genetic mapping.
- This study advances understanding of feline coat color genetics and X-linked gene localization.
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Epistasis
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X-linked Traits
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.
X-Inactivation
The human X chromosome contains over ten times the number of genes as in the Y chromosome. Since males have only one X chromosome, and females have two, one might expect females to produce twice as many of the proteins, with undesirable results.
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 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...
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X-linked Traits
In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.

