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Ch. 3 - Cell Division and Chromosome Heredity
Sanders - Genetic Analysis: An Integrated Approach 3rd Edition
Sanders3rd EditionGenetic Analysis: An Integrated ApproachISBN: 9780135564172Not the one you use?Change textbook
Chapter 3, Problem 17c

In cats, tortoiseshell coat color appears in females. A tortoiseshell coat has patches of dark brown fur and patches of orange fur that each in total cover about half the body but have a unique pattern in each female. Male cats can be either dark brown or orange, but a male cat with tortoiseshell coat is rarely produced. Two sample crosses between males and females from pure-breeding lines produced the tortoiseshell females shown.


Cross I     P: dark brown male × orange female
           F₁: orange males and tortoiseshell females
Cross II    P: orange male × dark brown female
           F₁: dark brown males and tortoiseshell females


The genetics service of a large veterinary hospital gets referrals for three or four male tortoiseshell cats every year. These cats are invariably sterile and have underdeveloped testes. How are these tortoiseshell male cats produced? Why do you think they are sterile?

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Step 1: Understand the genetic basis of coat color in cats. Coat color in cats is determined by the X chromosome. The gene responsible for the orange and dark brown coat colors is located on the X chromosome. Females (XX) can have two different alleles for coat color (one for orange and one for dark brown), leading to the tortoiseshell pattern due to X-inactivation. Males (XY) typically have only one X chromosome, so they can only express one coat color (either orange or dark brown).
Step 2: Analyze the crosses provided. In Cross I, a dark brown male (XᵇY) is crossed with an orange female (XᵒXᵒ). The F₁ offspring include orange males (XᵒY) and tortoiseshell females (XᵒXᵇ). In Cross II, an orange male (XᵒY) is crossed with a dark brown female (XᵇXᵇ). The F₁ offspring include dark brown males (XᵇY) and tortoiseshell females (XᵒXᵇ). This demonstrates that tortoiseshell females inherit one X chromosome with the orange allele and one X chromosome with the dark brown allele.
Step 3: Explain how male tortoiseshell cats are produced. Male tortoiseshell cats are produced due to a genetic anomaly, specifically the presence of an extra X chromosome. These males have a genotype of XᵒXᵇY, which allows them to express both orange and dark brown coat colors, resulting in the tortoiseshell pattern. This condition is known as Klinefelter syndrome in humans and is analogous in cats.
Step 4: Discuss why male tortoiseshell cats are sterile. The sterility of male tortoiseshell cats is due to the presence of the extra X chromosome (XᵒXᵇY). This chromosomal abnormality disrupts normal testicular development and function, leading to underdeveloped testes and infertility. The imbalance in sex chromosomes affects the production of sperm and overall reproductive capability.
Step 5: Summarize the findings. Male tortoiseshell cats are rare and result from a genetic anomaly involving an extra X chromosome (XᵒXᵇY). Their sterility is a consequence of this chromosomal abnormality, which impairs normal testicular development and function. This condition highlights the importance of sex chromosome balance in determining both physical traits and reproductive health.

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Key Concepts

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

X-Linked Inheritance

In cats, coat color is determined by genes located on the X chromosome. Female cats have two X chromosomes (XX), allowing them to express both orange and dark brown fur when they inherit different alleles. Male cats, with one X and one Y chromosome (XY), can only express the color of the single X they possess. This explains why tortoiseshell coloration is typically seen in females, as males cannot have both colors due to their genetic makeup.
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X-Inactivation

Genetic Mosaicism

Tortoiseshell females exhibit a phenomenon known as genetic mosaicism, where different cells express different alleles due to X-inactivation. In females, one of the two X chromosomes is randomly inactivated in each cell, leading to a patchwork of fur colors. This process does not occur in males, which is why male tortoiseshell cats are rare and usually result from an atypical genetic condition, such as having an extra X chromosome.
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Genetics of Development

Sterility in Male Tortoiseshell Cats

Male tortoiseshell cats are often sterile due to their atypical chromosomal configuration, typically being XXY instead of the normal XY. This condition, known as Klinefelter syndrome, can lead to underdeveloped testes and hormonal imbalances, resulting in infertility. The presence of an extra X chromosome disrupts normal male reproductive development, which is why these male tortoiseshell cats are rarely viable for breeding.
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Human Sex Chromosomes
Related Practice
Textbook Question

In a large metropolitan hospital, cells from newborn babies are collected and examined microscopically over a 5-year period. Among approximately 7500 newborn males, six have one Barr body in the nuclei of their somatic cells. All other newborn males have no Barr bodies. Among 7500 female infants, four have two Barr bodies in each nucleus, two have no Barr bodies, and the rest have one. What is the cause of the unusual number of Barr bodies in a small number of male and female infants?

Textbook Question

In cats, tortoiseshell coat color appears in females. A tortoiseshell coat has patches of dark brown fur and patches of orange fur that each in total cover about half the body but have a unique pattern in each female. Male cats can be either dark brown or orange, but a male cat with tortoiseshell coat is rarely produced. Two sample crosses between males and females from pure-breeding lines produced the tortoiseshell females shown.


Cross I     P: dark brown male × orange female

           F₁: orange males and tortoiseshell females

Cross II    P: orange male × dark brown female

          F₁: dark brown males and tortoiseshell females


Explain the inheritance of dark brown, orange, and tortoiseshell coat colors in cats.

Textbook Question

In cats, tortoiseshell coat color appears in females. A tortoiseshell coat has patches of dark brown fur and patches of orange fur that each in total cover about half the body but have a unique pattern in each female. Male cats can be either dark brown or orange, but a male cat with tortoiseshell coat is rarely produced. Two sample crosses between males and females from pure-breeding lines produced the tortoiseshell females shown.


Cross I     P: dark brown male × orange female

           F₁: orange males and tortoiseshell females

Cross II    P: orange male × dark brown female

           F₁: dark brown males and tortoiseshell females


Why are tortoiseshell cats female?

Textbook Question

The gene causing Coffin–Lowry syndrome (OMIM 303600) was recently identified and mapped on the human X chromosome. Coffin–Lowry syndrome is a rare disorder affecting brain morphology and development. It also produces skeletal and growth abnormalities, as well as abnormalities of motor control. Coffin–Lowry syndrome affects males who inherit a mutation of the X-linked gene. Most carrier females show no symptoms of the disease but a few carriers do. These carrier females are always less severely affected than males. Offer an explanation for this finding.

Textbook Question

Four eye-color mutants in Drosophila—apricot, brown, carnation, and purple—are inherited as recessive traits. Red is the dominant wild-type color of fruit-fly eyes. Eight crosses (A through H) are made between parents from pure-breeding lines.

Which of these eye-color mutants are X-linked recessive and which are autosomal recessive? Explain how you distinguish X-linked from autosomal heredity.

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Textbook Question

Four eye-color mutants in Drosophila—apricot, brown, carnation, and purple—are inherited as recessive traits. Red is the dominant wild-type color of fruit-fly eyes. Eight crosses (A through H) are made between parents from pure-breeding lines.

Predict F2 phenotype ratios of crosses A, B, D, and G.