Essential Cell Biology 5th edition

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666 CHAPTER 19 Sexual Reproduction and GeneticsOFFSPRING (F 1 GENERATION)yellow-pea plants75% yellowpeaplantsSELF-FERTILIZATIONOFFSPRING (F 2 GENERATION)25% green-peaplantsFigure 19−22 The appearance of theF 2 generation shows that an individualcarries two alleles of each gene. Whenthe F 1 plants in Figure 19−21 are allowed toself-fertilize (or are bred with each other),25% of the progeny produce green peas.ECB5 e19.22/19.22three-quarters of the offspring in the F 2 generation had yellow peas, onequarterhad green peas (Figure 19−22). Mendel saw the same type ofbehavior for each of the other six traits he examined.To account for these observations, Mendel proposed that the inheritanceof traits is governed by hereditary factors (which we now call genes) andthat these factors come in alternative versions that account for the variationsseen in inherited characteristics. The gene dictating pea color, forexample, exists in two “flavors”—one that directs the production of yellowpeas and one that directs production of green peas. Such alternative versionsof a gene are now called alleles, and the whole collection of allelespossessed by an individual—its genetic makeup—is called its genotype.Mendel’s major conceptual breakthrough was to propose that for eachcharacteristic, an organism must inherit two copies, or alleles, of eachgene—one from its mother and one from its father. The true-breedingparental strains, he theorized, each possessed a pair of identicalalleles—the yellow-pea plants possessed two alleles for yellow peas, thegreen-pea plant two alleles for green peas. An individual that possessestwo identical alleles is said to be homozygous for that trait. The F 1 hybridplants, on the other hand, had received two dissimilar alleles—one specifyingyellow peas and the other green. These plants were heterozygousfor the trait of interest.The appearance, or phenotype, of the organism depends on which versionsof each allele it inherits. To explain the disappearance of a trait inthe F 1 generation—and its reappearance in the F 2 generation—Mendelsupposed that for any pair of alleles, one allele is dominant and the otheris recessive, or hidden. The dominant allele, whenever it is present, woulddictate the plant’s phenotype. In the case of pea color, the allele thatspecifies yellow peas is dominant; the green-pea allele is recessive.One important consequence of heterozygosity, and of dominance andrecessiveness, is that not all of the alleles that an individual carries canbe detected in its phenotype. Humans have about 24,000 genes, and eachof us is heterozygous for a very large number of these. Thus, we all carrya great deal of genetic information that remains hidden in our personalphenotype but that can turn up in future generations.Each Gamete Carries a Single Allele for Each CharacterMendel’s theory—that for every gene, an individual inherits one copy fromits mother and one copy from its father—raised some logistical issues. Ifan organism has two copies of every gene, how does it pass only onecopy of each to its progeny? And how do these gene sets come togetheragain in the resulting offspring?Mendel postulated that when sperm and eggs are formed, the two copiesof each gene present in the parent separate so that each gamete receivesonly one allele for each trait. For his pea plants, each egg (ovum) andeach sperm (pollen) receives only one allele for pea color (either yellowor green), one allele for pea shape (round or wrinkled), one allelefor flower color (purple or white), and so on. During fertilization, spermcarrying one or other allele unites with an egg carrying one or otherallele to produce a fertilized egg or zygote with two alleles. Which spermunites with which egg at fertilization—thus, which alleles the zygote willreceive—is entirely a matter of chance.This principle of heredity is laid out in Mendel’s first law, the law ofsegregation. It states that the two alleles for each trait separate (or segregate)during gamete formation and then unite at random—one fromeach parent—at fertilization. According to this law, the F 1 hybrid plants

Mendel and the Laws of Inheritance667Figure 19−23 Parent plants produce gametes that each containone allele for each trait; the phenotype of the offspring dependson which combination of alleles it receives. Here we see both thegenotype and phenotype of the pea plants that were bred in theexperiments illustrated in Figures 19−21 and 19−22. The true-breedingyellow-pea plants produce only Y-bearing gametes; the true-breedinggreen plants produce only y gametes. The F 1 offspring of a crossbetween these parents all produce yellow peas, and they have thegenotype Yy. When these hybrid plants are bred with each other, 75%of the offspring have yellow peas, 25% have green. The gray box atthe bottom, called a Punnett square after a British mathematician whowas a follower of Mendel, allows one to track the segregation of allelesduring gamete formation and to predict the outcomes of breedingexperiments like the one outlined in Figure 19−22. According to thesystem established by Mendel, capital letters indicate a dominantallele and lowercase letters a recessive allele.with yellow peas will produce two classes of gametes: half the gameteswill get a yellow-pea allele and half will get a green-pea allele. When thehybrid plants self-pollinate, these two classes of gametes will unite atrandom. Thus, four different combinations of alleles can come together inthe F 2 offspring (Figure 19−23). One-quarter of the F 2 plants will receivetwo alleles specifying green peas; these plants will produce green peas.One-quarter of the plants will receive two yellow-pea alleles and willproduce yellow peas. But one-half of the plants will inherit one allele foryellow peas and one allele for green. Because the yellow allele is dominant,these plants—like their heterozygous F 1 parents—will all produceyellow peas. All told, three-quarters of the offspring will have yellow peasand one-quarter will have green peas. Thus Mendel’s law of segregationexplains the 3:1 ratio that he observed in the F 2 generation.Mendel’s Law of Segregation Applies to All SexuallyReproducing OrganismsMendel’s law of segregation explained the data for every trait he examinedin pea plants, and he replicated his basic findings with corn andbeans. But his rules governing inheritance are not limited to plants: theyapply to all sexually reproducing organisms (Figure 19−24).Consider a phenotype in humans that reflects the action of a single gene.The major form of albinism—Type II albinism—is a rare condition thatis inherited in a recessive manner in many animals, including humans.Like the pea plants that produce green seeds, albinos are homozygousrecessive: their genotype is aa. The dominant allele of the gene (denotedA) encodes an enzyme involved in making melanin, the pigment responsiblefor most of the brown and black color present in hair, skin, and thephenotype: yellow peagenotype:YYYFEMALEGAMETESPARENTAL GENERATIONgametes25% YY25%phenotype: green peagenotype:CROSS-FERTILIZATIONFIRST GENERATION (F 1 )phenotype: yellow peagenotype: YYSELF-FERTILIZATION25% Y 25% YF 2 GENERATIONECB5 e19.23/19.23gametesYMALEGAMETESFigure 19−24 Mendel’s law ofsegregation applies to all sexuallyreproducing organisms. Dogs are bredspecifically to enhance certain phenotypictraits, including a diverse range of bodysize, coat color, head shape, snout length,ear position, and fur patterns. Scientistshave been conducting genetic analyseson scores of dog breeds to search for thealleles that underlie these common caninecharacteristics. A single growth factorgene has been linked to body size, andthree additional genes have been shownto account for coat length, curliness, andthe presence or absence of “furnishings”—bushy eyebrows and beards—in almostall dog breeds. (By Ester Inbar, availablefrom http://commons.wikimedia.org/wiki/User:ST.)

666 CHAPTER 19 Sexual Reproduction and Genetics

OFFSPRING (F 1 GENERATION)

yellow-pea plants

75% yellowpea

plants

SELF-

FERTILIZATION

OFFSPRING (F 2 GENERATION)

25% green-pea

plants

Figure 19−22 The appearance of the

F 2 generation shows that an individual

carries two alleles of each gene. When

the F 1 plants in Figure 19−21 are allowed to

self-fertilize (or are bred with each other),

25% of the progeny produce green peas.

ECB5 e19.22/19.22

three-quarters of the offspring in the F 2 generation had yellow peas, onequarter

had green peas (Figure 19−22). Mendel saw the same type of

behavior for each of the other six traits he examined.

To account for these observations, Mendel proposed that the inheritance

of traits is governed by hereditary factors (which we now call genes) and

that these factors come in alternative versions that account for the variations

seen in inherited characteristics. The gene dictating pea color, for

example, exists in two “flavors”—one that directs the production of yellow

peas and one that directs production of green peas. Such alternative versions

of a gene are now called alleles, and the whole collection of alleles

possessed by an individual—its genetic makeup—is called its genotype.

Mendel’s major conceptual breakthrough was to propose that for each

characteristic, an organism must inherit two copies, or alleles, of each

gene—one from its mother and one from its father. The true-breeding

parental strains, he theorized, each possessed a pair of identical

alleles—the yellow-pea plants possessed two alleles for yellow peas, the

green-pea plant two alleles for green peas. An individual that possesses

two identical alleles is said to be homozygous for that trait. The F 1 hybrid

plants, on the other hand, had received two dissimilar alleles—one specifying

yellow peas and the other green. These plants were heterozygous

for the trait of interest.

The appearance, or phenotype, of the organism depends on which versions

of each allele it inherits. To explain the disappearance of a trait in

the F 1 generation—and its reappearance in the F 2 generation—Mendel

supposed that for any pair of alleles, one allele is dominant and the other

is recessive, or hidden. The dominant allele, whenever it is present, would

dictate the plant’s phenotype. In the case of pea color, the allele that

specifies yellow peas is dominant; the green-pea allele is recessive.

One important consequence of heterozygosity, and of dominance and

recessiveness, is that not all of the alleles that an individual carries can

be detected in its phenotype. Humans have about 24,000 genes, and each

of us is heterozygous for a very large number of these. Thus, we all carry

a great deal of genetic information that remains hidden in our personal

phenotype but that can turn up in future generations.

Each Gamete Carries a Single Allele for Each Character

Mendel’s theory—that for every gene, an individual inherits one copy from

its mother and one copy from its father—raised some logistical issues. If

an organism has two copies of every gene, how does it pass only one

copy of each to its progeny? And how do these gene sets come together

again in the resulting offspring?

Mendel postulated that when sperm and eggs are formed, the two copies

of each gene present in the parent separate so that each gamete receives

only one allele for each trait. For his pea plants, each egg (ovum) and

each sperm (pollen) receives only one allele for pea color (either yellow

or green), one allele for pea shape (round or wrinkled), one allele

for flower color (purple or white), and so on. During fertilization, sperm

carrying one or other allele unites with an egg carrying one or other

allele to produce a fertilized egg or zygote with two alleles. Which sperm

unites with which egg at fertilization—thus, which alleles the zygote will

receive—is entirely a matter of chance.

This principle of heredity is laid out in Mendel’s first law, the law of

segregation. It states that the two alleles for each trait separate (or segregate)

during gamete formation and then unite at random—one from

each parent—at fertilization. According to this law, the F 1 hybrid plants

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