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Genetic Lingo

Genetic Lingo

X-Inactivation

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

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.

Lethal Alleles

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...

Background and Environment Affect Phenotype

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...

Epistasis

Epistasis

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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Related Experiment Video

Updated: Jan 1, 2026

Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea

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Published on: February 21, 2016

[Cat-eye syndrome (a psychiatric aspect)].

I A Makarov¹, S B Gavrilina¹, B G Belozerov¹

¹Central Clinic Psychiatry Hospital of Moscow Region, Moscow, Russia.

Zhurnal Nevrologii I Psikhiatrii Imeni S.S. Korsakova

|December 19, 2019

Summary

Cat-eye syndrome, linked to chromosome 22 abnormalities, presents with varying degrees of mental retardation. Early cosmetic surgery for iris coloboma may improve mental health and social integration.

Keywords:

complete and incomplete coloboma of the iris hemangioma incomplete cat’s eye syndrome macrognatia mental retardation sacral fossa schizotypal personality

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Area of Science:

Genetics
Clinical Medicine
Psychiatry

Background:

Cat-eye syndrome (CES) is a rare genetic disorder characterized by specific physical abnormalities and developmental issues.
CES is associated with partial trisomy or tetrasomy of chromosome 22, specifically involving the 22q11.2 region.
Understanding the genetic underpinnings is crucial for diagnosing and managing CES patients.

Observation:

This study analyzes three clinical cases of Cat-eye syndrome observed over time.
All patients exhibited some degree of mental retardation.
One case presented with schizotypal personality disorder, detailed herein.

Findings:

Mental retardation is a consistent feature across CES cases.
Schizotypal personality disorder was observed in one patient, exacerbated by social stressors related to physical features.
Iris coloboma, a common CES feature, was noted in the detailed case.

Implications:

Early surgical correction of physical anomalies, such as iris coloboma, may mitigate psychological distress.
Addressing social stressors and providing psychological support is vital for patients with CES.
Interdisciplinary management involving genetics, surgery, and psychiatry can improve patient outcomes and social integration.