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Related Concept Videos

Genetic Lingo01:11

Genetic Lingo

Overview
Epistasis01:39

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...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Inheritance01:25

Inheritance

Gregor Mendel's pioneering work on the principles of inheritance fundamentally transformed our understanding of how traits are transmitted from generation to generation. His experiments with pea plants laid the groundwork for the discovery of genes, discrete units within organisms that control heredity.
Each gene exists in pairs, and the combination of these genes from both parents forms an individual's genotype. This genotype is a blueprint of potential traits. Examples of genotype traits...
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...

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Determination of Photoreceptor Cell Spectral Sensitivity in an Insect Model from In Vivo Intracellular Recordings
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Genetics of human iris colour and patterns.

Richard A Sturm1, Mats Larsson

  • 1Melanogenix Group, Institute for Molecular Bioscience, The University of Queensland, Brisbane, Qld, Australia. R.Sturm@imb.uq.edu.au

Pigment Cell & Melanoma Research
|July 22, 2009
PubMed
Summary
This summary is machine-generated.

Human eye color is a complex polygenic trait. A specific genetic variation near the OCA2 gene on chromosome 15 significantly influences blue-brown eye color by regulating gene expression through chromatin remodeling.

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Area of Science:

  • Genetics
  • Ophthalmology
  • Molecular Biology

Background:

  • Human eye color is determined by melanin pigment in the iris, with complex patterns like crypts and furrows.
  • Previous models of eye color inheritance, like simple Mendelian genetics, are insufficient.
  • A polygenic trait model is needed to understand the biological complexities of eye color determination.

Purpose of the Study:

  • To investigate the genetic basis of human eye color determination.
  • To identify specific genetic variations influencing eye color, particularly blue-brown variations.
  • To understand the molecular mechanisms regulating eye color genes.

Main Methods:

  • Quantitative trait studies and fine mapping of chromosome 15.
  • Analysis of the OCA2 gene region and its regulatory elements.
  • Investigating the role of single nucleotide polymorphism (SNP) rs12913832 T/C in HERC2 locus.

Main Results:

  • A single base change (rs12913832 T/C) in the HERC2 locus explains most of the variance in blue-brown eye color.
  • This SNP acts as a regulatory element, influencing OCA2 gene activation via chromatin remodeling.
  • Other candidate genes like MITF and PAX6 may also affect iris patterns.

Conclusions:

  • Human eye color is a complex polygenic trait influenced by specific genetic variations.
  • The rs12913832 SNP in the HERC2 locus is a key regulator of OCA2 gene expression, significantly impacting eye color.
  • Further research into genes like MITF and PAX6 is needed to fully understand iris pattern variations.