Human Heredity: Principles and Issues (MindTap Course List)
Human Heredity: Principles and Issues (MindTap Course List)
11th Edition
ISBN: 9781305251052
Author: Michael Cummings
Publisher: Cengage Learning
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Chapter 7, Problem 12QP

Mutations Can Uncouple chromosomal Sex from Phenotypic Sex

Discuss whether the following individuals (1) have male or female gonads, (2) are phenotypically male or female (discuss Wolffian/Müllerian ducts and external genitalia), and (3) are sterile or fertile.

  1. a. XY, homozygous for a recessive mutation in the testosterone biosynthetic pathway, producing no testosterone
  2. b. XX, heterozygous for a dominant mutation in the testosterone biosynthetic pathway, which causes continuous production of testosterone
  3. c. XY, heterozygous for a recessive mutation in the MIH gene
  4. d. XY, homozygous fora recessive mutation in the SRY gene that abolishes function
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. Researchers discovered recently that the sole functionof the SRY protein is to activate an autosomal genecalled Sox9 in the presumptive gonad (before it has“decided” to become a testis or an ovary).a. What would be the sex of an XY individual homozygous for nonfunctional mutant alleles of Sox9?Explain.
Researchers discovered recently that the sole functionof the SRY protein is to activate an autosomal genecalled Sox9 in the presumptive gonad (before it has“decided” to become a testis or an ovary).a. What would be the sex of an XY individual homozygous for nonfunctional mutant alleles of Sox9?Explain.b. Given your answer to part (a), why is SRY, ratherthan Sox9, considered the male determining factor?(Hint: What do you think would happen if you didan experiment like the one in the Fast Forward BoxTransgenic Mice Prove That SRY Is the MalenessFactor, except that you used a Sox9 transgeneinstead of SRY?)
Question 15: Consider the consequence if one of the mutations you tested for complementation was a dominant mutation. You should see that complementation tests could not be used to provide information about dominant mutations. a) If a mutation were dominant how would your interpretation of the phenotype of the diploid be altered? No change would occur v b) How would you test whether any of these trp mutations were dominant? There is no way to test fc V
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