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Ch. 18 - Developmental Genetics
Sanders - Genetic Analysis: An Integrated Approach 3rd Edition
Sanders3rd EditionGenetic Analysis: An Integrated ApproachISBN: 9780135564172Not the one you use?Change textbook
Chapter 18, Problem 28

In C. elegans there are two sexes: hermaphrodite and male. Sex is determined by the ratio of X chromosomes to haploid sets of autosomes (X/A). An X/A ratio of 1.0 produces a hermaphrodite (XX), and an X/A ratio of 0.5 results in a male (XO). In the 1970s, Jonathan Hodgkin and Sydney Brenner carried out genetic screens to identify mutations in three genes that result in either XX males (tra-1, tra-2) or XO hermaphrodites (her-1). Double-mutant strains were constructed to assess for epistatic interactions between the genes (see table). Propose a genetic model of how the her and tra genes control sex determination.

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Analyze the wild-type phenotypes: In wild-type C. elegans, XX individuals are hermaphrodites, and XO individuals are males. This indicates that the X/A ratio determines the default sex, with 1.0 (XX) leading to hermaphrodites and 0.5 (XO) leading to males.
Interpret the tra-1 and tra-2 recessive mutations: Both tra-1ʳᵉᶜ and tra-2ʳᵉᶜ mutations result in XX individuals becoming males, suggesting that these genes are required for hermaphrodite development. Their recessive nature implies that the wild-type alleles of tra-1 and tra-2 promote hermaphrodite development.
Interpret the her-1 recessive mutation: The her-1ʳᵉᶜ mutation results in both XX and XO individuals becoming hermaphrodites. This suggests that her-1 is required for male development, and its recessive nature implies that the wild-type her-1 allele promotes male development.
Analyze double mutants for epistasis: In tra-1ʳᵉᶜ her-1ʳᵉᶜ and tra-2ʳᵉᶜ her-1ʳᵉᶜ double mutants, the XX individuals are male, indicating that the tra genes act downstream of her-1. This means that her-1 promotes male development by inhibiting the tra genes, which are necessary for hermaphrodite development.
Propose a genetic model: Based on the data, her-1 acts upstream to inhibit the tra genes (tra-1 and tra-2), which are required for hermaphrodite development. In the absence of her-1 activity (her-1ʳᵉᶜ), the tra genes are active, leading to hermaphrodite development. If the tra genes are mutated (tra-1ʳᵉᶜ or tra-2ʳᵉᶜ), male development occurs regardless of her-1 status.

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Key Concepts

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

Sex Determination in C. elegans

In C. elegans, sex is determined by the ratio of X chromosomes to autosomes, denoted as X/A. A ratio of 1.0 (XX) results in a hermaphrodite, while a ratio of 0.5 (XO) leads to a male. This mechanism highlights the genetic basis of sex determination, where the presence and number of sex chromosomes directly influence the sexual phenotype.
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Gene Function and Mutations

The genes tra-1, tra-2, and her-1 are crucial for sex determination in C. elegans. Mutations in these genes can lead to abnormal sexual phenotypes, such as XX males or XO hermaphrodites. Understanding how these mutations affect gene function is essential for constructing a genetic model of sex determination.
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Functional Genomics

Epistasis

Epistasis refers to the interaction between genes, where the effect of one gene is modified by one or several other genes. In the context of the her and tra genes, analyzing double-mutant strains helps determine how these genes interact to control sex determination, revealing the hierarchical relationships among them.
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Related Practice
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Dipterans (two-winged insects) are thought to have evolved from a four-winged ancestor that had wings on both T2 and T3 thoracic segments, as in extant butterflies and dragonflies. Describe an evolutionary scenario for the evolution of dipterans from four-winged ancestors. What types of mutations could lead to a butterfly developing with only two wings?

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Basidiomycota is a monophyletic group of fungi that includes most of the common mushrooms. You are interested in the development of the body plan of mushrooms. How would you identify the genes required for patterning during mushroom development?

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Textbook Question

Zea mays (maize, or corn) was originally domesticated in central Mexico at least 7000 years ago from an endemic grass called teosinte. Teosinte is generally unbranched, has male and female flowers on the same branch, and has few kernels per 'cob,' each encased in a hard, leaf-like organ called a glume. In contrast, maize is highly branched, with a male inflorescence (tassel) on its central branch and female inflorescences (cobs) on axillary branches. In addition, maize cobs have many rows of kernels and soft glumes. George Beadle crossed cultivated maize and wild teosinte, which resulted in fully fertile F₁ plants. When the F₁ plants were self-fertilized, about 1 plant in every 1000 of the F₂ progeny resembled either a modern maize plant or a wild teosinte plant. What did Beadle conclude about whether the different architectures of maize and teosinte were caused by changes with a small effect in many genes or changes with a large effect in just a few genes?

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Textbook Question

In Drosophila, recessive mutations in the fruitless gene (fru) result in males courting other males, and recessive mutations in the Antennapedia gene (Ant⁻) lead to defects in the body plan, specifically in the thoracic region of the body, where mutants fail to develop legs. The two genes map 15 cM apart on chromosome 3. You have isolated a new dominant Antdᵈ mutant allele that you induced by treating your flies with X-rays. Your new mutant has legs developing instead of antennae on the head of the fly. You cross your newly induced dominant Antᵈ mutant (a pure-breeding line) with a homozygous recessive fru mutant (which is homozygous wild type at the Ant⁺ locus), as diagrammed below:

What phenotypes, and in what proportions, do you expect in the F₂ obtained by interbreeding F₁ animals?

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Textbook Question

In Drosophila, recessive mutations in the fruitless gene (fru) result in males courting other males, and recessive mutations in the Antennapedia gene (Ant⁻) lead to defects in the body plan, specifically in the thoracic region of the body, where mutants fail to develop legs. The two genes map 15 cM apart on chromosome 3. You have isolated a new dominant Antdᵈ mutant allele that you induced by treating your flies with X-rays. Your new mutant has legs developing instead of antennae on the head of the fly. You cross your newly induced dominant Antᵈ mutant (a pure-breeding line) with a homozygous recessive fru mutant (which is homozygous wild type at the Ant⁺ locus), as diagrammed below: Your cross results in the following phenotypic proportions:

Legs on head, normal courting behavior 75

Normal head, abnormal courting behavior 25

Legs on head, abnormal courting behavior 0

Normal head, normal courting behavior 0

Provide a genetic explanation for these results and describe a test for your hypothesis

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Textbook Question

In Drosophila, recessive mutations in the fruitless gene (fru) result in males courting other males, and recessive mutations in the Antennapedia gene (Ant⁻) lead to defects in the body plan, specifically in the thoracic region of the body, where mutants fail to develop legs. The two genes map 15 cM apart on chromosome 3. You have isolated a new dominant Antdᵈ mutant allele that you induced by treating your flies with X-rays. Your new mutant has legs developing instead of antennae on the head of the fly. You cross your newly induced dominant Antᵈ mutant (a pure-breeding line) with a homozygous recessive fru mutant (which is homozygous wild type at the Ant⁺ locus), as diagrammed below:

Provide a molecular explanation for the reason your new Antᵈ mutant is dominant and for its novel phenotype.

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