KEY CONCEPTS ae eee SRE ‘Figure 14.1. What principles of inheritance did Gregor Mendel discover by breeding arden pea plants? eee en ony ee ‘ . Drawing from the Deck of Genes ae ee no See sto the marvellous variety and di the crowd ata hockey or soccer match atte sity of humankind, Brown, blue, or grey eyes: black, brown, or blond hair—th: Mendelian genetics ute just a few examples of heritable variations that we may observe, What principles ee ‘ , SE er account for the tansnission of such traits from parents to ofipin fedity most widely in fivour during the 1800s was the blending” hypothesis, the idea that genetic material conteibuted by the two p: ents mixes just as blue and yellow paints blend to make green. This hypot jon will give rise toa The explanation of h a freely mating popul predicts that over many generatio ‘uniform population of individuals, something we don't see. Te blending hypoth- »ped a generation exis also fails to explain the reappearance of traits after they'v aan ‘An altemative to the blending model is a “particulate” hypothesis of inheritance: In this model, parents pass on discrete heritable units—genes—that 's collection of genes is separate identities in offipring. An organis more like a deck of cards than a pail of paint. Like playing cards, genes can be shullled and passed along, generation afe Moder genetics had its genesis in an abbey g: Gregor Mendel documented a particulate mechanism for inheritance wsing pea plants (Figure 14.1). Mendel developed his theory of inheritance several neration, in undiluted form, den, where a monk named ! “4 Mende! (thir from right, holding a sprig ‘ = of fuchsia) with his fellow monks. 281decades before chromosomes were observed under the microscope and the significance of their behaviour was understood. In this chapter, we'll step into Mendel’s garden to re-ereate his experiments and explain how he arrived at his theory of inheritance. We'll also explore inheritance patterns mare complex than those observed by Mendel in garden peas, Finally, we will see how the Mendelian model applies to the inheritance of human variations, including. hereditary disorders such as sickle-cell disease concert 14.1 Mendel used the scientific approach to identify two laws of inheritance ‘Mendel discovered the basic principles of heredity by breeding garden peas in carefully planned experiments. As we retrace his work, you will recognize the key elements Of the scientific process that were introduced in Chapter 1 Mendel’s Experimental, Quantitative Approach ‘Mendel grew up on bis parents’ small farm in a region of | Austria that is now past of the Czech Republic. Ia dis agricultural area, Mendel and the other children received agricultural training in school along with their basic edu- cation, As an adolescent, Mendel overcame financial hard ship and illness to excel in high school and, later, at the ‘Olmutz Philosophical Institute. In 1843, at the age of 21, Mendel entered an Augus- sinian monastery, a reasonable choice at that time for someone who valued the life of the mind. He considered becoming a teacher but filed the necessary examina~ tion. In 1851, he left the monastery to pursue two years of study in physics and chemistry at the University of | Vienna. These were very important years for Mendel’s development asa scientist, in large part due to the strong, influence of two professors. One was the physicist Chris- tian Doppler, who encouraged his students to learn sci~ ence through experimentation and trained Mendel to use mathematics to help explain natural phenomena, The other was a botanist named Franz Unger, who aroused Mendel’s interest in the causes of variation in plants After attending the university, Mendel returned to the monastery and was assigned fo teach at a local school, where several other instructors were enthusiastic about scientific research. In addition, his fellow monks shared a long-standing fascination with the breeding of plants, Around 1857, Mendel began breeding garden peas in the abbey garden to study inheritance, Although the question of heredity had long been a focus of curiosity at the mon astery, Mendel's fresh approach allowed him to deduce principles that had remained elusive to others. 282 UNIT THREE Genstics (One reason Mendel probably chose to work with peas is ‘that chere are many varieties, For example, one variety has purple dowers, while another variety has white fowers. A heritable feature that varies among individuals, such at lower colour, is called a character. Each variant for a character, such as purple or white colour for flowers, is called a trait, Other advantages of using peas are their short genera tion time and the large number of oflipring from each mating, Furthermore, Mendel could strictly control mat= ing between plants (Figure 14.2). The reproductive organs of a pea plant are in its lowers, and each pea flower has both pollen-producing organs (stamens) and an egg-bearing. Y Figure 14.2 ears) Crossing Pea Plants Application By crossing (mating) two true-breeding varieties of an ‘organism, scientists can study pattems af inheritance. In this exam, Mondo crossed pea plans that varied in flawer colour Technique @ Removed stamens from purple flower © transfered sperm bearing pollen from ‘stamens of white flower to egg- J bearing carpe of ¢ purple ower Parental generation ® © Polinated cape! matured into pod O Planted seeds from od Results When pollen ftom 2 white flower was transferred to @ purple ‘ewer, the first-generation hybrids all had purple flowers. The result 19as the same forthe reciprocal cross, which involed the vansfer of pollen from purple lowers ta white flowers. Obamined ctsrng Siipule First fat flowers generation ftspring &organ (carpel). In nature, pea plants usually self-fertilize: Pollen grains from the stamens land on the carpel of the same flower, and sperm released from the pollen grains fertl- ize eggs present in the carpel." To achieve eross-pollination of two plants, Mendel removed the immature stamens of a plant before they produced pollen and then dusted pollen from another plant onto the altered flowers (see Figure 14.2). Each resulting zygote then developed into a plant embryo encased in a seed (pea). His method allowed Mendel to always be suze of the parentage of new seeds ‘Mendel chose to track only those characters that occurred in two distinct, alkernative forms, such as purple or white flower colour, He also made sure that he started his experi~ ‘ments with varieties that were true-breeding—chat is, over, ‘many generations of selpollination, these plants had pro- duced only the same variety as the parent plant, For exam= pile, a plant with purple flowers is truc-breeding if the seeds produced by selpollination in successive generations all give rise to plants that also have purple lowers. 1m atypical breeding experiment, Mendel cross-pollinated two contrasting, truc-breeding pea varieties —for example, purple-flowered plants and white-flowered plants (see Figure 14.2). This mating, or aossing, of two true-breeding varieties is called hybridization, The truc-breeding parents are referred to as the P_ generation (parental generation), and their hybrid offipring are the F, generation (frst filial gen~ eration, the word jal rom the Latin word for “son”). Allow- ing these F, hybrids to self-pollinate (or to cross-pollinate with other F, hybrids) produces an F, generation (second filial, generation). Mendel usually followed traits for atleast the P, F,, and F, generations. Had Mendel stopped his experiments with the F, generation, the basic patterns of inheritance would hhave eluded him, Mendel’s quantitative analysis of the F, plants from thousands of genetic crosses like these allowed him to deduce two fundamental principles of heredity, now called. the law of segregation and the law of independent assortment The Law of Segregation Ifthe blending model of inheritance were correct, the F, hybrids from a cross between purple-flowered and white- flowered pea plants would have pale purple flowers, a trait Intermediate between those of the P generation. Notice in Figure 14.2 that the experiment produced a very different result: All the F, offipring had dowers of the same colour as the purple-flowered parents. What happened to the white- Flowered plants’ genetic contribution to the hybrids? If it were lst, then the F, plants could produce only purple-flowered “*Axyou leaned in Figut 1.6, plas prodces sores ot gate Ta owerng plants Mk the pe, cach spore develops into a mrocopie spose sophie tat conte only few cl sd lested on the pare lit The pae= tophiteprodscer sperm in pollen gry and egg he carpe For sph, we Wil nt incude he ganetopye stage iy our dscasion of erazasion Ia pas offspring in the F, generation, But when Mende! allowed the F, plants to self-pollinate and planted their seeds, the white lower trait reappeared in the E, generation, ‘Mendel used very large sample sizes and kept accurate records of his results: 705 of the F; plants had purple flower, and 224 had white flowers, These data fit a ratio of approxi mately three purple to one white (Figure 14.3). Mendel reasoned that the heritable factor for white flowers did not disappear in the F, plants, but was somehow hidden, or vissriee [RENO When F; hybrid pea plants self- or cross-pollinate, which traits appear in the F, generation? Experiment Around 1860, in 2 monastery garden in BrUnn, Austia, (Gregor Mendel used the character of ler colour in pea plants to ‘olow traits through two generations. He crossed irue-breeding ourp ‘lowered plants and white-owered plants (crosses are symbol zed by X) ‘The resulting F; hybrids were allowed ta sel-palinate or wate cross pollnated with other F, hybrids, The F. generation plants were then root a at flowers | flowers of & (hybrids) Al plants had purple lowers Self-or cross-pollination 708 purple-‘lowered 224 white-flowered plants plants F, Generation Results Both purple-lowerec and white-owered plants appeared in the F, generation in 2 ratio of approximately 3: Conclusion The “heritable factor" forthe recessive tat (whit flowers) had not boon destroyed, deleted, or “abndod” inthe F, generation but vwas merely masked by the presence ofthe facto for purple lowers, ‘hich isthe dominant tra. “Source: Based on “Experinats Pant yeridzatn’ by Grege bende. fm Pe easing fhe Nats ely Scie of Sr, 1865, Value 4. © Jae BReace Ifyou mated tno purple lowered plants from the P ‘eneraton, what rato of tats would you expect to observe in the spring? Expain CHAPTER 14 Mendel and the Gene Ides 283er eee Cee et Ts F Generation Dominant Recessive Dominant Character Trait” =X Trait Recessive Ratio Flower Purple x Whi 705.224 3.15:1 colour 4 Os, Seedecolour Yellow = Green 602,201 3.011 ‘Seed shape Round ~—Wrinkled —5474:1850 2.96:1 Podshape Inited x Consvcted 887.298 7,951 Podcolour Green x Yollw —426:162 2,821 Flower fwal—X Termnal—<651:207 3.141 position ; ‘Stem length Tall =X ~—(Owarh=—«78U:277— DBA > Figure 14.4 Alleles, alternative versions of a gene. A somatic col has two copies of each chrome- some (forming a homolo- ous pair and thus two Copies af each gore; th alleles may be identical or cifferent. This igure depts 2 par of homologous caro osomes in an Fy hyarid ea plant. The paternally inherited chromosome (blue), which was present in the sperm within a pollen gain, has sn allele for aure ple favers, and the mater. nally inherited chromosome (red), which was present in an egg wihin a carpet, has anallele for wate flowers, m, Allele for purple lowers, Pair of Locus for flowealour gene} homologous chromosomes Allele for whit flowers of 284 UNIT THREE Genstics DNA with nucleotide sequence BTAAATCGGT DNA with nucleate sequence BTAAATCGGT masked, when the purpleflower factor was present, In Mendet’s terminology, purple flower colour is a dominant trait, and white flower colour isa recessive trait. The reap~ pearance of white-flowered plants in the Fy generation was evidence thatthe heritable factor causing white flowers had not been diluted or destroyed by coexisting with the purple- flower factor in the F, hybrids. Instead, it had been hidden when in the presence of the purple-lower factor. Mendel observed the same pattem of inheritance in si other characters, each represented by two distinctly different traits (Table 14.1, For example, when Mendel crossed a tue-breeding. variety that produced smooth, round pea seeds with one that produced wrinkled seeds, all the F; hybrids produced round. seeds; ths isthe dominant trait for seed shape. In the F, generae tion, approximately 75% of the seeds were round and 25% were ‘wrinkled —a 3:1 ratio, asin Figure 14.3. Now lets see how “Mendlel deduced the law of segregation fiom his experimental results In the discussion that follows, we will use modern terms instead of some of the terms used by Mendel. (For example ‘we'll use “gene” instead of Mendel’s “heritable factor”) Mendel’s Model ‘Mendel developed a model to explain the 3:1 inheritance pat tem that he consistently observed among the B, olfipring in his pea experiments. We describe four related concepts making up this model, the fourth of which is the law of segregation, Furst, altemative versions of genes account for variations in inherited characters, The gene for ower colour in pea plants, for example, exists in two versions, one for purple flowers and the other for white flowers. These alternative versions ofa gene are called alleles. Today, we can relate this con cept to chromosomes and DNA. As shown in Figure 14.4, each gene isa sequence of nucleotides at a specific place, Through a series of steps, ths ONA sequence results in production of an enzyme that helps synthesize purple pigment, one purple-lower like resuts This DNA sequence results in the | sufficient absence of the enzyme. pigment for purple flowers.of locus, along a particular chromosome, The DNA at that locus, however, can vary slightly in its nucleotide sequence. This variation in information content can affect the function f dower of the encoded protein and thus an inherited charac the organism. The purple-flower allele and the white allele are two DNA sequence variations possible at the Alower-colour locus on one of a pea plant's chromosomes. The purple-flower allele sequence allows synthesis of purple pigment, and the white-flower allele sequence does not Second, for each character, an organism inherits two copies (that is, two alleles) ofa gene, ome from each parent. Remark- ably, Mendel made this deduction without knowing about the role, or even the existence, of chromosomes, Each somatic cell in a diploid organism has two sets of chromo- somes, one set inherited from each parent (see Figure 13.4). Thus, a genetic locus is actually represented twice in a dip- oid cell, once on each homologue of a specific pair of chromosomes. The two alleles at a particular locus may be identical, a in the true-breeding. plants of Mendel’s P generation, Or P Generation ‘Appearance Genetic makeup: the alleles may differ, as in hybrids (see Figure 14.4) Third, ifthe two alleles at locus differ, then one, the dominant allele, determines the organism's appearance; the other, the recessive allele, has no notice able effet on the organism's appearance Accordingly, Mendel's F, plants had purple flowers because the allele for that trait is dominant and the allele for oF, Gametes Generation ‘Appearance Genetic makeup Bs Purple flowers. White flowers white flowers is recesive The fourth and final part of Men— Gometes a dels model, the law of segregation, states that the nv alles fora heritable character senegte (parte fom each othe) during gamete formation and end up in df Generation ferent gametes. This, an egg oF a sperm gets only one of the two alleles that a ace present in the somatic cells of the een organism making the gamete. In terms Fy (Pe) plant of chromosomes, cis segregation cor- 0 responds to the distribution of copies of the two members of a pair of hor gous chromozomes to different gametes in meiosis (see Figure 13.7), Note that m has identical alleles for character, then that allele Because itis is present in all gam the only allele that can be passed on to. offspring, the offspring always look like their parents; this explaine why these plant 4A Figure 14.5 Mendel’ law of segregati ‘erations in Figure 14.3 tllustvates Mendel's modelo” inhertance ofthe alleles ofa single gene. Each plant has two alleles forthe gene controlling flower colour, ane alle ine patents. To cons possible gametes from ane pater (here, the, female) along t possible gametes from the other paren offspring resuling from al the possible unians of male and female gametes. plants are truc-breeding, But if different alleles are present, as in the P, hybrids, chen 50% of the gametes receive the domi- nant allele and 50% receive the recessive allele Does Mendel’s segregation model account for the 3:1 ratio he observed in the F; generation of his numerous crosses? For the flower-colour character, the model predicts that the two different alleles present in an F, individual will segregate into gametes sich that half the gametes will have the purple-flower allele and half will have the white-flower allele. During self-pollination, gametes of each class unite randomly. An egg with 2 purple-flower allele has an equal chance of being fertilized by a sperm with a purple-flower allele or one with a white-flower allele, Since the same is true for an egg with a white-flower allele, there are four equally likely combinations of sperm and egg. Figure 14.5 illustrates these combinations using a Pannett square, Each rue-breeding plant of the parental generation nas two identical alleles, denoted a5 ether PP or pp. Gametes (circles) each contain only ‘one allele for the flower-colour gene. In this case, every gamete produced by 2 aiven parent has the same allele. PP we a © No &% Union of parental gametes produces F hybrids having a p combination Because the purple-flower alles dominant al hese hybrids have purple flower. Purple lowers: ” When the hybrid plants produce Dy _ Bametes the two alleles segregate © (P) fot the gametes receve the Palle fre the other hal ve p alle. See This box, a Punnett square, sh is box, a Punnet square, shows Fp lant All possble combination of alles Oo in tspring that esa fom an Ow F, XF; (Pp X Pp) cross. Each square represents an equal probable prosuct SO) Fomotstvets, eles lft box shows the genetic combination resulting fom ap ego feriized by T@same 4% O@ Random combination of the gametes results In the 3:1 ratio that Mendel ‘observed in the F, generation, 30. This diagram shows the ge le makeup of the gen- Irom each ofthe generation offspring, we stall the Ht sige ofthe square and all the ere, the F; malo) alang the top, The boxes represent the Punnett square that predicts th CHAPTER 14