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Ch. 7 - Sex Determination and Sex Chromosomes
Chapter 7, Problem 19

Predict the potential effect of the Lyon hypothesis on the retina of a human female heterozygous for the X-linked red-green color blindness trait.

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1
Understand the Lyon hypothesis, which states that in females, one of the two X chromosomes is randomly inactivated in each cell, leading to a mosaic pattern of expression for X-linked genes.
Recognize that red-green color blindness is an X-linked recessive trait, meaning that the gene responsible for this condition is located on the X chromosome.
Consider that a heterozygous female has one normal allele and one allele for color blindness on her X chromosomes.
Since X-inactivation is random, some cells in the retina will express the normal allele, while others will express the color blindness allele.
Predict that the retina will have a mosaic pattern, with some areas having normal color vision and others having impaired color vision, potentially leading to partial color blindness.

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Key Concepts

Here are the essential concepts you must grasp in order to answer the question correctly.

Lyon Hypothesis

The Lyon hypothesis, also known as X-inactivation, states that in female mammals, one of the two X chromosomes is randomly inactivated during early embryonic development. This process ensures dosage compensation between males (XY) and females (XX) for X-linked genes. The inactivated X chromosome forms a Barr body and is largely transcriptionally silent, which can influence the expression of X-linked traits.
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Translation:Wobble Hypothesis

X-linked Inheritance

X-linked inheritance refers to the pattern of inheritance for genes located on the X chromosome. In females, who have two X chromosomes, the expression of X-linked traits can be influenced by which X chromosome is inactivated. In the case of X-linked red-green color blindness, a female heterozygous for the trait may express normal vision if the normal allele is on the active X chromosome, while the color blindness allele is on the inactive one.
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X-Inactivation

Retinal Function and Color Vision

The retina contains photoreceptor cells, including cones that are responsible for color vision. In humans, the red-green color blindness trait affects the function of specific cone cells, leading to difficulties in distinguishing between red and green hues. In a heterozygous female, the random inactivation of one X chromosome can result in a mosaic pattern of retinal cells, where some cells express normal color vision while others do not, potentially leading to partial color blindness.
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