Using Hair Color to Make a Clear Connection Between Genotype And

Common Misconceptions In creating a new generation, parents pass DNA to their offspring. The DNA carries genes that hold the informa- COLOR tion for the proteins and RNA molecules that will determine the offsprings’ traits. We can’t see the DNA, RNA, and protein molecules, but we can see some of the traits they produce. It is challenging to work backward, inferring in- visible mechanisms from a handful of visible traits. Yet this is precisely what 19th-century Austrian scientist Gregor Mendel did. Mendel, the founder of genetics, studied generations of pea plants. Peas are self-fertilizing, and Mendel’s pea popu- Using hair color to make a clear lation was largely separate from other peas. Self-pollination CODEconnection between genotype leads to a loss of genetic diversity, leaving Mendel with a number of traits for which only two variations were left and phenotype (e.g., green pea pods versus yellow pea pods). The varia- J. José Bonner tions were determined by alleles, which are different genetic variations of a particular gene (e.g., y [for the recessive yel- tudents may wonder why they look the way they low] and Y [for the dominant green]). do, maybe seeing Dad’s nose and Mom’s eyes when It is common to introduce genetics using Mendel’s ex- they glance in the mirror. The answer lies in genet- amples, but this can lead to misconceptions. Consider, for ics, the branch of biology that deals with heredity example, a simple genetic cross between two homozygotes and the variation of inherited traits. However, understand- (identical alleles): YY × yy = Yy. The offspring, the F genera- S 1 ing how an organism’s genetic code (i.e., genotype) affects tion, are all heterozygotes (different alleles). Crossing the F1s its characteristics (i.e., phenotype) is more than a matter of among themselves produces the F2s: Yy × Yy = YY, Yy, and idle curiosity: It’s essential for understanding heredity and yy, in a 1:2:1 ratio (YY, Yy, Yy, yy) of genotypes but a 3:1 ratio the processes of mutation and evolution. Yet, students often of phenotypes, 3 green peas to 1 yellow. have trouble making the connection between genotype and A similar series of genetic crosses cannot be performed phenotype. This article offers a simple way to illustrate that with humans (as it would require sibling marriages), but connection—through a discussion of human hair color. the pattern of inheritance fits many human traits. Yet students sometimes generalize from particular examples and develop misconceptions. A particularly durable one is that all traits have two alleles: one dominant, the other recessive. This belief leads students to infer that alleles are stable and can’t change, which, in turn, leads to thinking that genetics has no role in evolution—a conclusion that may have been shared by Mendel himself (Callender 1988). Students with this view imagine that evolutionary mutations are some kind of magical transformation of individuals from one species to another, entirely unrelated to changes in DNA sequence. We can help students avoid these misconceptions by clarifying the definition of mutation and by expanding students’ understanding of alleles and the most common mechanism of dominance. 64 The Science Teacher Color Code From peas to hair dren, but lighter-hair parents Peas may be a terrific organism for the study of genetics, don’t have darker-hair children. but students naturally find a discussion of human genetics Darker appears to be dominant more relevant to their lives. But human genetics is messy to lighter. Why? Keywords: Genotype/Phenotype and complicated. Yet, there is a way to take advantage of Again, guide the discus- at www.scilinks.org our tremendous genetic diversity and simultaneously ad- sion. Point out that the visible Enter code: TST121102 dress the genotype and phenotype connection: hair color. trait is pigment; it’s not a gene Have your students look around the classroom. Does itself or an allele of that gene. It is necessary to talk about everyone look the same? Does everyone have the same hair what the gene does. In an introductory high school biology color? There are many shades of brown hair, from light class, students might describe this as “the gene required for brown (blonde) to medium brown to dark brown to a brown the production of brown pigment”; alleles that cause more that is so dark it looks black (Figure 1). Why is this? pigment to be produced would be expected to be dominant People aren’t peas or fruit flies, so students can’t just “set to alleles that cause less pigment to be produced. For an up the crosses”—mix the parents together and collect the advanced biology course, or in a course with a previous unit F1s and eventually the F2s. But students can look at their on enzymes and gene expression, students should use more own families. Ask students to create pedigree charts of their detailed phrasing: “These alleles affect the activity level of families, showing hair color (e.g., Figure 2, p. 66; see “On the the enzyme required to produce the pigment.” Regardless web”). Many genes influence hair color, but the Skin, Hair, of the phrasing, the bottom line is the same: Darker hair is and Eye Pigmentation gene (SHEP1; see “On the web”) shows dominant to lighter hair because the enzyme makes more the greatest allelic diversity and can, in principle, produce the of the pigment. entire story told here. To simplify, I recommend referring to Human hair color is determined by too many alleles to a hypothetical gene called brown. use only two symbols (e.g., B and b). Instead, we must refer As students study their pedigrees and those of their class- to specific alleles, such as brownebony, brownoak, and brownhoney mates, ask them to think of possible explanations for the (Figure 1). The general rule that darker hair is dominant to results. It may be helpful to show a sample pedigree chart lighter hair indicates that dark brown is dominant to medium (Figure 2) to give the discussion a common focus. Guide their brown and medium brown is dominant to light brown. So is discussion as needed. In general, it should become evident medium-brown hair dominant or recessive? It depends on the that darker-hair parents sometimes have lighter-hair chil- allele with which it is paired. An allele itself cannot be either FIGURE 1 Many alleles of the brown hair color–determining genes. December 2011 65 morphological features occur in small tissue primordia FIGURE 2 during embryogenesis in animals and in the meristems of Family pedigrees of hair color. plants. In recent years, an entire subdiscipline has devel- oped around the study of developmental evolutionary biol- Students can learn about pedigree charts by making ogy, evo-devo (Carroll 2005) or devo-evo (Raff 1996). charts showing generations of their families. Treating To a large extent, morphological events in embryogenesis these colors as phenotypes from different alleles of depend upon cell–cell contact and short-range diffusible a single gene, students can infer that ebony is domi- molecules. For example, during vertebrate limb develop- nant to oak, honey, and vanilla; oak is dominant to ment (Tickle 2006), limb buds form on the flanks of embryos honey and vanilla; and honey is dominant to vanilla. shortly after the cell movements of neurulation (Figure 3). Intermediate colors are recessive in some heterozy- Within each limb bud, cells communicate to activate various gous combinations but dominant in others. developmental control genes that determine how individual cells differentiate. Expression of those genes depends on the cells’ positions in the embryo. Students asking about evolutionary changes in morphology should be told that the “rules” are the same as with hair color: The genes are passed from parents to offspring and are subject to occasional mutations. The difference is that these FIGURE 3 Limb development. dominant or recessive; it is more accurate to speak of a particular A. Vertebrate embryos form a limb bud on the em- allele being dominant or recessive in a particular combination. bryo’s flank. Within this limb bud, different cells I suspect that coming face-to-face with alleles like “me- activate different genes depending upon local dium brown” that are dominant to some alleles (lighter cell–cell communication. The result is that cells colors) but recessive to other alleles (darker colors) encour- differentiate according to their positions in the ages students to ponder why it works that way. This moves limb bud. them from memorizing “received wisdom” to figuring out B. The complex patterns of gene expression (A) enable the basis of dominance, which builds the connection between the limb bud to establish “gradients of information.” genotype and phenotype. Each cell acquires information on its relative loca- tion in the limb bud and develops accordingly. From hair pigment to morphology C. As the limb grows outward from the side of the embryo, the information established by differen- When students reach the unit on evolution, some ask ques- tial gene expression leads each cell to develop into tions about body shape (i.e., morphology). Like hair color, the appropriate parts of the limb. morphology is controlled genetically, but the mechanisms are more complicated. In general, the critical events for What causes mutations? DNA damage, followed by imperfect repair, causes most mutations. The DNA-repair enzymes are more prone to making errors than the DNA-replication enzymes. Radiation (e.g., x-rays, radioactivity) or chemi- cals (e.g., pollutants, plant toxins, oxygen radicals) can cause DNA damage. None of these DNA-damaging agents can choose where to damage DNA.

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