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Ch. 5 - Sex Determination and Sex Chromosomes
Klug - Essentials of Genetics 10th Edition
Klug10th EditionEssentials of GeneticsISBN: 9780135588789Not the one you use?Change textbook
Chapter 5, Problem 26

In chickens, a key gene involved in sex determination has recently been identified. Called DMRT1, it is located on the Z chromosome and is absent on the W chromosome. Like SRY in humans, it is male determining. Unlike SRY in humans, however, female chickens (ZW) have a single copy while males (ZZ) have two copies of the gene. Nevertheless, it is transcribed only in the developing testis. Working in the laboratory of Andrew Sinclair (a co-discoverer of the human SRY gene), Craig Smith and colleagues were able to 'knock down' expression of DMRT1 in ZZ embryos using RNA interference techniques. In such cases, the developing gonads look more like ovaries than testes. What conclusions can you draw about the role that the DMRT1 gene plays in chickens in contrast to the role the SRY gene plays in humans?

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Understand the genetic basis of sex determination in both species: In humans, the SRY gene is located on the Y chromosome and is the primary male-determining factor, present only in males (XY). In chickens, the DMRT1 gene is located on the Z chromosome, with males being ZZ (two copies) and females ZW (one copy).
Note the difference in gene dosage: Male chickens have two copies of DMRT1, while females have only one. This suggests that the amount of DMRT1 gene product may be important for male development, unlike SRY which is simply present or absent.
Consider the experimental evidence: Knocking down DMRT1 expression in male (ZZ) chicken embryos causes their gonads to develop more like ovaries, indicating that DMRT1 is necessary for testis development in chickens.
Compare the mode of action: SRY acts as a switch gene that triggers male development when present, whereas DMRT1 appears to act in a dose-dependent manner, where two copies promote testis development and one copy is insufficient, leading to female development.
Conclude that DMRT1 in chickens functions as a dosage-sensitive male-determining gene on the Z chromosome, contrasting with the presence/absence mechanism of SRY on the Y chromosome in humans, highlighting different evolutionary strategies for sex determination.

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Key Concepts

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

Sex Chromosome Systems in Birds and Mammals

Birds have a ZW sex chromosome system where males are ZZ and females are ZW, opposite to the XY system in mammals. The Z chromosome carries genes like DMRT1 important for male development, while the W chromosome is largely gene-poor. Understanding these differences is crucial to compare sex determination mechanisms between species.
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Human Sex Chromosomes

Role of DMRT1 and SRY Genes in Sex Determination

SRY in humans is a Y-linked gene that triggers male development by initiating testis formation. In chickens, DMRT1 is located on the Z chromosome and is dosage-dependent, with males having two copies and females one. DMRT1’s expression in developing testes indicates it acts as a male-determining factor, but unlike SRY, it relies on gene dosage rather than presence/absence.
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Sex Determination

Gene Knockdown and Functional Analysis

RNA interference (RNAi) is a technique used to reduce gene expression to study gene function. Knocking down DMRT1 in male (ZZ) chicken embryos caused gonads to develop more like ovaries, demonstrating DMRT1’s essential role in male sex determination. This experimental approach helps reveal gene function by observing phenotypic changes after gene suppression.
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Related Practice
Textbook Question

In mice, the Sry gene is located on the Y chromosome very close to one of the pseudoautosomal regions that pairs with the X chromosome during male meiosis. Given this information, propose a model to explain the generation of unusual males who have two X chromosomes (with an Sry-containing piece of the Y chromosome attached to one X chromosome).

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Textbook Question

The genes encoding the red- and green-color-detecting proteins of the human eye are located next to one another on the X chromosome and probably evolved from a common ancestral pigment gene. The two proteins demonstrate 76 percent homology in their amino acid sequences. A normal-visioned woman (with both genes present on each of her two X chromosomes) has a red-color-blind son who was shown to have one copy of the green-detecting gene and no copies of the red-detecting gene. Devise an explanation for these observations at the chromosomal level (involving meiosis).

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Textbook Question

In mice, the X-linked dominant mutation Testicular feminization (Tfm) eliminates the normal response to the testicular hormone testosterone during sexual differentiation. An XY mouse bearing the Tfm allele on the X chromosome develops testes, but no further male differentiation occurs—the external genitalia of such an animal are female. From this information, what might you conclude about the role of the Tfm gene product and the X and Y chromosomes in sex determination and sexual differentiation in mammals? Can you devise an experiment, assuming you can 'genetically engineer' the chromosomes of mice, to test and confirm your explanation?

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