Chapter 17 Summary

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Core Concepts Summary

17.1 Many organisms have a distinctive pair of chromosomes, often called the X and Y chromosomes, that differ between the sexes and show different patterns of inheritance in pedigrees from other chromosomes.

In humans and other mammals, XX individuals are female and XY individuals are male. page 346

The human X and Y chromosomes are different lengths and contain different genes, except for small regions of homology that allow the two chromosomes to pair in meiosis. page 347

Segregation of the X and Y chromosomes during male meiosis results in half of the sperm receiving an X chromosome and half a Y chromosome so that random union of gametes predicts a 1:1 female:male sex ratio at the time of fertilization. page 347

17.2 X-linked genes, which show a crisscross inheritance pattern, provided the first evidence that genes are present in chromosomes.

Thomas Hunt Morgan studied a mutation in the fruit fly Drosophila melanogaster that resulted in fruit flies with white eyes rather than wild-type red eyes. In this species, as in mammals, females are XX and males are XY.page 348

In a cross of a normal red-eyed female with a mutant white-eyed male, all of the male and female progeny had red eyes. When brothers and sisters of this cross were mated with each other, all of the females had red eyes, but males were red-eyed and white-eyed in a 1:1 ratio. page 348

This pattern of inheritance is observed because the gene Morgan studied is located in the X chromosome. The nonmutant w+ allele is dominant to the mutant w allele, and the gene is present only in the X chromosome and not in the Y chromosome. page 348

X-linked genes show a crisscross inheritance pattern, in which the X chromosome with the mutant gene that is present in males in one generation is present in females in the next generation. page 349

Calvin Bridges observed rare fruit flies that did not follow the usual pattern for X-linked inheritance and inferred that these exceptional fruit flies resulted from nondisjunction, or failure of homologous chromosomes to segregate, in male or female meiosis. His observations provided evidence that genes are carried in chromosomes. page 350

In humans, X-linked inheritance shows a pattern in which affected individuals are almost always males, affected males have unaffected sons, and a female whose father is affected can have affected sons. page 352

17.3 In genetic linkage, two genes are sufficiently close together in the same chromosome that the combination of alleles present in the chromosome tends to remain together in inheritance.

Genes that are close together in the same chromosome are linked and do not undergo independent assortment. page 353

Recombinant chromosomes result from crossing over between genes on the same chromosome and show a nonparental combination of alleles. page 354

Nonrecombinant chromosomes have the same configuration of alleles as one of the parental chromosomes. page 354

In genetic mapping, the observed proportion of recombinant chromosomes is the frequency of recombination and can be used as a measure of distance along a chromosome. A recombination frequency of 1% is 1 map unit. page 355

Gene linkage and mapping are used to identify the locations of disease genes in the human genome. page 357

17.4 Most Y-linked genes are passed from father to son.

In humans and other mammals, the Y chromosome contains a gene called SRY that results in male development. page 357

In Y-linked inheritance, only males are affected and all sons of an affected male are affected. Females are never affected and do not transmit the trait. page 357

Most Y-linked genes show complete linkage, which allows their evolutionary history to be traced. page 358

17.5 Mitochondria and chloroplast DNA follow their own inheritance pattern.

Mitochondria and chloroplasts have their own genomes, which reflect their evolutionary history as free-living prokaryotes. page 359

Mitochondria in humans and other mammals show maternal inheritance, in which individuals inherit their mitochondrial DNA from their mother. page 359

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Because mitochondrial DNA does not undergo recombination and is maternally inherited, it can be used to trace human ancestry and migration. page 360

Self-Assessment

  1. Explain how the human X and Y chromosomes can pair during meiosis even though they are of different lengths and most of their genes are different.

    Self-Assessment 1 Answer

    The X and Y chromosomes can pair during meiosis through regions of homology located near the tips of the chromosomal arms.

  2. Describe the biological basis for the 1:1 ratio of males and females at conception in mammals.

    Self-Assessment 2 Answer

    Meiosis in the mammalian egg cell results in X-bearing eggs only. In contrast, meiosis in the sperm cell results in a 1:1 ratio of X-bearing and Y-bearing cells. Random fertilization of the egg results in a 1:1 ratio of female to male offspring.

  3. For a recessive X-linked mutation, such as color blindness, explain the pattern of inheritance from an affected male through his daughters into her children.

    Self-Assessment 3 Answer

    When an affected male mates with a homozygous nonmutant female, all of the sons are normal (because they receive their X chromosome from their mother), but all of the daughters are heterozygous (because they must receive their father’s X chromosome). When one of these heterozygous daughters mates with a normal male, half of the sons are affected (they inherit their grandfather’s X-linked allele) and half are normal (they inherit their grandmother’s X-linked allele); as for the daughters, while all of the daughters are phenotypically unaffected, half are heterozygous (they inherit their grandfather’s X-linked allele), whereas half are homozygous nonmutant (they inherit their grandmother’s X-linked allele).

  4. Explain why linked genes do not exhibit independent assortment.

    Self-Assessment 4 Answer

    Linked genes do not exhibit independent assortment because they are located sufficiently close together on the same chromosome that crossing over is unlikely to occur between them and they segregate into gametes together.

  5. Describe how recombination frequency can be used to build a genetic map.

    Self-Assessment 5 Answer

    The closer, or more tightly linked, that two genes are to each other, the smaller the frequency of recombination because it is less likely that a crossover event would take place in the interval between them. The further two genes are from each other, the greater the frequency of recombination because there would be a greater chance that a crossover event will happen in the interval between the genes. The frequency of recombination can be used as a measure of distance between the genes.

  6. Describe the pattern of inheritance expected from a Y-linked gene in a human pedigree.

    Self-Assessment 6 Answer

    For a Y-linked gene, only males are affected with the trait and all sons of affected males are affected, which means males in every generation show the trait. Females never inherit or transmit the trait, which is due to the fact that males get their Y chromosome from their father only.

  7. Describe the pattern of inheritance expected from a gene present in mitochondrial DNA in a human pedigree.

    Self-Assessment 7 Answer

    In humans, a gene present in mitochondrial DNA is transmitted from the mother’s egg cell to the offspring. Both males and females can show the trait, all offspring from an affected female show the trait, and males never transmit the trait to their offspring.

  8. Explain how Y-chromosome and mitochondrial DNA data can be used to trace ancestry.

    Self-Assessment 8 Answer

    Y-linked genes show complete linkage, which means that its sequences are not exchanged for others through crossing over and mutations can accumulate in a single line of inheritance. Mitochondrial DNA also does not undergo recombination and is maternally inherited. Because each hereditary lineage of Y chromosomes and mitochondria is separate from every other lineage, they can be used to trace an individual’s ancestry.