Chromosomes and Mutations

In this unit, students analyze phenomena of inheritance in how living things pass along their genes to offspring. Students evaluate the role of DNA and chromosomes in heredity in this lesson. This page is a high-level extract of this lesson.

Science Background for Teachers:

The science background provides teachers with more in-depth information on the phenomena students explore in this unit. Below is an excerpt from the science background section on chromosomes and mutations.

Structure of DNA

DNA is a polymer, which means it is a large molecule made up of many smaller molecules bonded together in a repeating chainlike pattern. DNA is made up of smaller molecules called nucleotides. A nucleotide is itself made up of three types of molecules: a phosphate, a 5-carbon sugar, and a nitrogen-containing base. There are four nitrogen bases: adenine (A), thymine (T), guanine (G), and cytosine (C).

DNA gets its name from the sugar molecule, which is called deoxyribose. DNA has two strands that wind around each other, which makes the DNA molecule twist like a spiral staircase, called a double helix shape. The sugar and phosphate molecules make up the sides of the ladder, and the bases pair up to form the rungs.

Genes and Proteins

The specific order of nucleotides determines the meaning of the information encoded in that part of the DNA molecule, in the same way that the specific order of letters determines the meaning of a word.

DNA is broken up into smaller segments called genes. A gene is a specific pattern of nucleotides that produces a specific protein or set of proteins, which in turn codes for a trait. In other words, each gene contains a specific structure of DNA that provides instructions for how to make one or a few related proteins. Each protein is a chain made up of compounds called amino acids. Amino acids are primarily made up of the elements carbon, hydrogen, oxygen, and nitrogen, although other elements are sometimes found.

The structure of the protein often affects how the protein functions. For example, the proteins that help you digest food are structured in such a way that they can break down particular food molecules.

After a protein or set of proteins is built according to the instructions in the gene, the completed protein is released to do its job in the cell. Everything that takes place in an organism is either made of proteins or is the result of an action caused by a protein. Proteins build the structures of the organism, specifically its cells, tissues, and organs. Proteins also determine how an organism looks and even sometimes how an organism behaves. For example, proteins make up the physical structures of lobsters, including their internal structures, such as their cells, and their external structures, such as their claws. Proteins also determine the exact color of the lobster.

Chromosomes

Genes are located on chromosomes. A chromosome is a threadlike structure of DNA and protein found in the nucleus of eukaryotic cells. Each chromosome holds hundreds or thousands of genes on it. The genes are located on the chromosomes in a very specific way. Because of this, if scientists know where one gene is located, they can find it on anyone’s chromosomes.

Different kinds of organisms have different numbers and shapes of chromosomes. For example, prokaryotic cells don’t have a nucleus, so their DNA is spread throughout the entire cell. Most bacteria have one or two circular chromosomes. Plants and animals have linear chromosomes that are arranged in pairs. Fruit flies have four pairs of chromosomes, while lobsters have 50 pairs of chromosomes.

In humans, there are 23 pairs of chromosomes found in the nucleus of each of your cells (except for red blood cells, which don’t have a nucleus). Chromosomes are in pairs because one chromosome is inherited from each parent.

Both chromosomes in the chromosome pair contain genes that code for the same proteins. These are called alleles. An allele is a form of the same gene that has small differences in the sequence of DNA bases. For example, one allele might have the instructions for proteins that would result in blue eyes, while another allele might have the instructions for proteins that would result in brown eyes. Each parent contributes one allele.

Supports Grade 7

Science Lesson: Exploring Chromosomes and Mutations

DNA is the “blueprint for life” because it contains the instructions for building all living things and ensuring that organisms function properly. Because understanding traits and inheritance begins first with an understanding of DNA and genes, students organize human karyogram models to observe how structural changes to the DNA code affect certain traits.

Science Big Ideas

  • Traits are the physical and behavioral characteristics of an organism, and they can be passed down from parents to offspring.
  • DNA is a large molecule made up of smaller molecules.
  • An organism’s DNA determines what an organism looks like, how its body functions, and often how it behaves.
  • Sometimes the specific structure of a gene can change. This is called a mutation, and it sometimes affects the production of proteins.
  • Scientists use karyotypes and karyograms to analyze chromosomes.

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Science Essential Questions

  • Why do parents and their offspring often resemble one another?
  • How are inherited traits different from learned traits?
  • Why do scientists need to understand DNA if they want to understand why an organism has the traits it has?
  • How are the two strands of DNA connected together?
  • How does an organism’s body know how to make the different proteins?
  • What is the relationship between a chromosome, a gene, and a trait?
  • Why are chromosomes generally found in pairs in humans?
  • Why are there small differences between the genes on each of the individual chromosomes?
  • Why are karyotypes important?
  • How might a scientist be able to tell if there is a mutation in a karyotype?
  • Why aren’t mutations always a cause for concern?

Common Science Misconceptions

Misconception: Organisms grow because cells get bigger.

Fact: Organisms grow because cells divide. 

Misconception: Cell division results in a decrease in the number of chromosomes.

Fact: In mitosis, cells divide to create exact replicas of themselves, with the same number and kind of chromosome. In meiosis, the daughter cells have half the number of chromosomes as the parent cell.

Misconception: Mutations are always harmful. 

Fact: Mutations are not uncommon, and they can sometimes lead to beneficial traits. Other mutations don’t change how the trait is expressed. These mutations are called silent or neutral mutations.

Science Vocabulary

Adaptation : a trait that helps an organism survive in its environment

Chromosome : a threadlike structure of DNA and protein found in the nucleus of eukaryotic cells; a discrete package of genetic material

Chromosome pair : a pair of chromosomes that possess the same genes but may have different alleles (alternative forms of a gene) because each chromosome comes from a different parent

DNA : deoxyribonucleic acid; a molecule that contains the genes for an organism’s traits and is passed on from parents to children

Gene : a specific pattern of nucleotides that produces a specific protein, which in turn codes for a trait

Heredity : the passing on of traits from one generation to the next in a family

Karyogram : a visual representation of an organism’s complete set of chromosomes, arranged in pairs and in a numbered sequence according to the size and the position of the centromeres

Mutation : any permanent change in the DNA

Polymer : a large molecule made up of many smaller molecules bonded together in a repeating chainlike pattern

Trait : a physical or behavioral characteristic of an organism

Lexile(R) Certified Non-Fiction Science Reading (Excerpt)

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Catching a Blue Lobster

Wayne Nickerson was fishing off of the coast of Massachusetts when he caught a lobster. This wasn’t a typical lobster, however. Most lobsters are usually a greenish-brown color until they’re cooked, when they turn bright orange/red.

The lobster caught by Wayne Nickerson was bright blue. Bright blue lobsters are rare. Only 1 out of every 2 million lobsters is blue. The lobster Wayne caught was so unusual that Wayne’s wife, Jan, named it “Bleu,” which is French for blue. The couple wants to donate the lobster to the New England Aquarium.

The unusual color of the lobster is a physical trait. Traits are the physical and behavioral characteristics of an organism. A lobster’s crawling to move around is an example of a behavioral trait. Traits can be passed down from parents to offspring, which is called heredity. Traits that are passed down are called inherited traits.

Environmental factors can shape inherited traits. For example, height is an inherited trait that is determined by our genes. However, poor nutrition—an environmental factor—can stunt growth. Learned traits are those traits that are developed during your lifetime, so they are not inherited. Language is an example of a learned trait in humans, as is the ability to ride a bike. Just because your parents can ride a bike does not mean that you are born knowing how to ride a bike. You must first learn how to do it.

 

Mutations

The path from a gene to a protein is very complex, and there are many steps along the way. Sometimes, the instructions in the DNA can become changed in the process. Any permanent change in the DNA is called a mutation.

Genetic mutations that are inherited from a parent are called hereditary mutations. Other mutations are not hereditary. These are called acquired mutations and they occur in the DNA of individual cells at some time during a person’s life. They can be caused by environmental factors or a mistake made as DNA copies itself (we’ll explore this idea more in the next section). While some genetic mutations are very rare, others are common in the population. Many of the common mutations cause the normal variations among people, including hair and eye color.

Other mutations don’t have any effect on you. These are called neutral, or “silent,” mutations because they don’t change the expression of any gene. The blue lobster’s color is an example of a mutation that is harmful to the organism. In this particular mutation, the genes that code for color cause the lobster’s cells to make too much of one particular protein, which makes the lobsters that unique blue color. Very few blue lobsters survive in the wild because their bright blue color makes them stand out against the ocean floor. This makes it easy for predators to spot them and eat them.

In contrast, the brownish color of most lobsters is a useful adaptation that allows them to blend into their surroundings and hide better from predators. An adaptation is a trait that helps an organism survive in its environment.

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Scientists can study an organism’s karyotype, which is the number, form, and size of all of an organism’s chromosomes. Scientists use a karyotype to identify and evaluate the size, shape, and number of chromosomes in a sample of body cells.

Scientists can organize an organism’s chromosomes in a karyogram, a visual representation of an organism’s complete set of chromosomes, arranged in pairs and in a numbered sequence according to the size and the position of the centromeres. The centromere is the part of the chromosome that links the individual chromosomes within a pair.

In humans, the first 22 chromosome pairs are the autosomes, which are chromosomes that everyone has. They are numbered according to size. The gender-specific sex chromosomes are the final chromosome pair. Biological females have an XX combination, and biological males have an XY combination.

Studying karyotypes and karyograms is important for scientists interested in the structure of cells, as well as the study of heredity and genetics. For example, scientists can sometimes see mutations that are known to sometimes cause various illnesses.

 

Hands-on Science Activity

As the main activity for this lesson, students create human karyogram models to analyze how structural changes to chromosomes can affect the physical traits of organisms. During this activity, students analyze the karyogram models and figure out the relationship between DNA, chromosomes, mutations, and traits.

Science Assessments

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Science Standards

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Standards citation: NGSS Lead States. 2013. Next Generation Science Standards: For States, By States. Washington, DC: The National Academies Press. Neither WestEd nor the lead states and partners that developed the Next Generation Science Standards were involved in the production of this product, and do not endorse it.