Fall 2009
Countless students have been taught that the gene controls the color of the single currency, with the allele for brown eyes become dominant over blue. Scientists are aware of such a model is too simple and not really
What you need to know :.
Introduction In 1907, Charles and Gertrude Davenport developed a model for genetic eye color. They suggest that brown eyes are always dominant over blue eye color. This means that two parents with blue eyes will always produce a blue-eyed child, never people with brown eyes.
For most of the last 100 years, this version genetic eye color has been taught in the classroom around the World. This is one of the few genetic concepts that adults often remember from biology class their school or college. Unfortunately, this model is too simple and does not correct - the actual eye color is controlled by several genes. In addition, many genes involved in eye color also influences skin and hair tones. In this edition of the Biotech Association, we will explore the science behind pigmentation and eye color genetics discussed. In the next edition, we will discuss the genetic factors that contribute to skin and hair color.
A primer on pigmentation Human eye color, skin and hair is mainly controlled by the amount and type of pigment called melanin. Special cells known as melanocytes to produce melanin, stored in intracellular compartments known as melanosomes. The total number of melanocytes is roughly equivalent to all, but the level of melanin in each of melanosomes and the number of melanosomes in melanocytes varied. The total amount of melanin is what determines the range of hair, eye and skin color.
There are a number of genes involved in the production, processing and transport of melanin. Some genes play a major role while others accounted for only slightly. Until now, scientists have identified more than 150 different genes that affect the skin, hair and eye pigmentation (the latest list is available at). Some of these genes have been identified from the study of genetic disorders in humans. Others found through comparative genomics study of coat color in mice and pigmentation pattern on the fish. (A previous article Biotech101 which provides an overview of comparative genomics can be found.) Leaders of the
Eye color genes In humans, eye color is determined by the amount of light that reflects off the iris, the structure of the muscles that control how much light enters the eye. Range of eye color, from blue to brown to brown (see figure one), depending on the level of melanin pigments deposited in melanosomes "package" in the melanocytes of the iris. Blue eyes contain a minimum amount of pigment in a small number of melanosomes. Slices of green-brown eyes showed moderate levels of pigment and the number of melanosomes, while brown eyes are the result of high levels of melanin which is stored in a lot of melanosomes (see figure two, left).
To date, eight genes have been identified that impact eye color. OCA2 gene, located on chromosome 15 appears to play a major role in controlling brown / blue color spectrum. OCA2 produces a protein called P-protein involved in the formation and processing of melanin. Individuals with a mutation that prevents OCA2 P-protein from being produced are born with a form of albinism. These people have very light colored hair, eyes and skin. Non-OCA2 cause of the disease variants (alleles) have also been identified. This allele alters levels of P-protein by controlling the amount of RNA produced OCA2. Alleles that produce high levels of P-protein associated with brown eyes. the other allele, is associated with the color blue eyes, dramatically reducing the concentration of P-protein.
On the surface, this sounds like a model eye color dominant / recessive who has taught in biology class for decades. However, while about three-fourths of the eye color variation can be explained by genetic changes in and around this gene OCA2 is not the only influence on the color. A recent study that compared the eye color with OCA2 status shows that 62 percent of individuals with two copies of the allele OCA2 blue-eyed, and 7.5 percent of individuals who have a brown-eyed allele OCA2, has blue eyes. A number of other genes (such TYRP1, ASIP and ALC42A5) also function in melanin lines and shifting the amount of total melanin present in the iris. The combined efforts of these genes can increase the levels of melanin to produce a tan or brown eyes, or reducing the total melanin so blue eyes. It describes how two parents with blue eyes can have a green or brown-eyed children (the difficult situation under the model of a single gene Davenport) - allelic combination of colors for children, resulting in a large amount of melanin from one parent are individually owned.
As a side note, while there is wide variability in eye color, the color other than brown only between individuals of European descent. African and Asian populations usually brown eyes. In 2008 a team of researchers studied the gene OCA2 published results show that the alleles associated with blue eyes just happen in the 6000 -. 10,000 years old in the European population
Research Pigmentation in HudsonAlpha Dr. Greg Barsh, a physician-scientist who recently joined the faculty HudsonAlpha, and key aspects of the laboratory study of cell signaling and natural variation as a means to better understand, diagnose and treat human diseases. In particular, his work has focused on pigmentation disorders. He had mutations affecting explored easily observable characteristics such as variations in eye, hair or skin color as a guide to more complex processes such as diabetes, obesity, neurodegeneration and melanoma, the most serious form of skin cancer.
- Dr. Neil Lamb director of educational outreach HudsonAlpha Institute of Biotechnology
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