Science Study Guide – Lesson 2 - INSIDE LIFE Chapter 7 – TRACKING TRAITS KEY CONCEPTS AND VOCABULARY CONCEPT 1 – Traits are transmitted from parent to offspring through gametes. Traits and Genetic Diseases of organisms are transmitted from parent to offspring through GENES which are located in the chromosomes of reproductive Cells called GAMETES. Gametes are special parent reproductive cells, referred to as sperm in males and eggs in females. Genetic traits are transmitted from parent to offspring via the genes contained in these Gamete Cells. Examples of Genetic Traits and Genetic Diseases are; natural Eye or Hair Color, Baldness, Height, Skin Tone, Body Hair, Facial Features, and Genetic Diseases such as Muscular Dystrophy or Downs Syndrome. Acquired Traits, such as dyed hair color, muscles developed through exercise or a limp resulting from an accident are NOT inherited traits and since they occur after birth, they do not affect the genes of the organism. Therefore, Acquired traits cannot be passed along from parent to offspring through the reproductive process. Additionally, some diseases, such as drug addiction, alcoholism, or AIDS are transmitted via blood or other body fluids and even though they can appear in the offspring of parents suffering from these diseases, they are not genetic diseases because they are passed along from parent to offspring via blood or body fluids and not via their genes. CONCEPT 2 – Meiosis results in the formation of gametes that contain half the genetic information of other cells. Meiosis is the naturally occurring CELL DIVISION process that results in the creation of reproductive cells called GAMETES. The Male Gamete is the Sperm Cell and the Female Gamete is the Egg Cell. Chromosomes contain the GENES that determine the traits an offspring will inherit. All normal body cells, called Diploid Cells, contain PAIRS of Chromosomes made up of one chromosome from each parent. During Meiosis, the PAIRS of chromosomes contained in NORMAL DIPLOID CELLS are divided into cells containing only ONE Chromosome from EACH PAIR. As a result of Meiosis, the GAMETES, or the Sperm and Egg Cells, each contain only HALF of the Genetic Information from each parent. The Meiosis process is CRITICAL to the successful reproduction and survival of offspring because it insures that when the Sperm and EGG combine during conception, the offspring will have the SAME NUMBER of Chromosomes in their normal cells that each of their parents had BEFORE MEIOSIS OCCURRED. If Meiosis did not occur, offspring would have twice as many chromosomes in their cells and would be unable to survive. Meiosis also insures that each parent contributes EQUAL AMOUNTS of Genetic Information to their offspring and it creates a Gene Combination in the offspring that makes the offspring distinct from their parents. This insures variation within the species which promotes adaptations and survival of the species. CONCEPT 3 – Cells contain two copies of each chromosome and therefore two copies of each gene. Each Chromosome, located in the nucleus of an organism cell, contains many different Genes. Therefore, each chromosome affects many different traits. Also, each Chromosome Pair in a normal Diploid Cell contains copies of the same genes. Therefore, each pair of chromosomes affect the same traits. The Meiosis process insures that each offspring receives ONE chromosome from the FEMALE parent’s EGG and one chromosome from the MALE parent’s SPERM. Therefore, each chromosome pair in the offspring contains 2 copies of each gene, one from the female parent and one from the male parent. The genes received from each parent will affect the same traits, however, the “Form” or Allele of each gene in a pair may be different. The combined effect of the two different gene alleles, (one from each parent), will determine how each trait is expressed in the offspring. The combined effect of the 2 genes is referred to as the GENOTYPE and the actual observable trait that appears in the offspring is referred to as the PHENOTYPE. Example: If an offspring receives a gene from the female egg that is dominant for Red hair color and a gene from the male sperm that is recessive for brown hair color, the GENOTYPE of the offspring would be “Rr” and the resulting PHENOTYPE would be that the offspring will have RED HAIR. CONCEPT 4 - Variations in the traits of different generations are explained by the fact that each individual gets two copies of each gene. The process of Meiosis insures that each offspring receives exactly one half of its genetic information from each parent. Each male GAMETE, or sperm cell, contains one chromosome out of each pair of chromosomes from the original male diploid cell. Each female GAMETE, or egg, also contains one chromosome out each pair of chromosomes from the original female diploid cell. During conception, the sperm cell and the egg cell unite and fuse into a single new cell called a ZYGOTE Cell. This new cell recombines the individual chromosomes from the sperm and egg cells and becomes a new cell containing PAIRS of chromosomes once again. This new life, (the Zygote), contains exactly one half of its chromosomes from each parent and therefore, it also contains exactly one half of its genetic information from each parent. This sharing of genetic information insures that each offspring will receive some traits from each parent. Chromosome separation during Meiosis can occur in various sequences which can result in various Gene Alleles being present in the male and female gametes, (egg and sperm). Additionally, CROSSOVER, another natural occurrence during the Meiosis process can result in gene alleles actually changing from one chromosome in a pair to the other chromosome in the same pair. These natural variations during the Meiosis process increase the possible variations of Genotypes that can appear in offspring and increase the variation within the species. Mutations of genes can also occur during Meiosis which can result in defective genes, or an imbalance of chromosome pairs in the Zygote. If mutated genes are passed along to an offspring, they may, or may not effect the development of the offspring depending on how they are expressed in the Genotype for that trait. Variations in traits between offspring produced by the same parents as well as variation in future generations is the result of Meiosis and the fact that each offspring gets TWO copies of each gene, one from each parent. This variation insures that every individual is unique, and distinct from all other individuals, including siblings in the same family. (CONCEPT 4 Continued) Variation in a species supports adaptation to selective pressures such as environmental changes or predatory pressures and helps insure survival against the spread of genetic diseases or other deadly birth defects. VOCABULARY (in alpha order) ACQUIRED TRAITS – Characteristics that are not transmitted to an offspring via the genes of its parents and cannot be passed along to future generations. Examples: muscles from weightlifting, knowledge, a limp from an accident, hobbies, interests, spoken language. ALLELES – Different forms of the same gene such as “Tall/Short”, “Green/Yellow”, “Smooth/Wrinkled”. Forms are expressed as Letters such as “Tt for Tall/Short”, or “Gg for Green/Yellow” with the Capitol Letter indicating the Dominant Gene and the Lower Case Letter indicating the Recessive Gene. ASEXUAL REPRODUCTION – See “Reproduction, Asexual” CHROMOSOMES - Chromosomes are long, stringy aggregates of genes that carry heredity information. They are composed of DNA and proteins and are located within the nucleus of cells. Chromosomes determine everything from hair color and eye color to gender. Human cells contain 23 pairs of chromosomes for a total of 46. There are 22 pairs of Autosomes and one pair of Sex Chromosomes. Each chromosome contains a large number of trait genes ranging from as few as 230 trait genes to as many as 2988 trait genes in a single chromosome pair. CLONING - The process of creating an identical copy of something. In Biology, it collectively refers to processes used to create copies in a laboratory setting of DNA, cells, or complete new organisms. Cloning is also very similar to the natural process of axesual reproduction. In the Cloning process, only ONE PARENT is copied, thus, the offspring are genitacally identical to the parent that is cloned and there is no difference in genetic information between parent and offspring, and no variation from generation to generation. DIPLOID CELL – A normal cell of an organism that reproduces “sexually”. These cells CONTAIN MATCHING PAIRS of chromosomes. For each pair, one chromosome comes from the mother’s Egg Cell and one chromosome comes from the Father’s Sperm Cell. Each pair of chromosomes contain genes that effect the same traits of the offspring organism. However, the alleles for each gene may be different and the traits expressed in the offspring will depend on the Genotypes that are formed and which Alleles are dominant. DNA – (deoxyribonucleic acid) – The molecules within a chromosome where genetic information of an organism are stored. Genes are small sections of the DNA molecules which are organized into distinct structures called chromosomes. DOMINANT GENE – The form of a gene that is expressed in the offspring, even when present with a corresponding recessive form of the same gene. Example: If the alleles for hair color are “R” for Red Hair and “r” for Brown Hair, a genotype that contains the alleles “RR” or “Rr” would result in an offspring with Red Hair even though the “Brown Hair allele” is present as a recessive allele in the “Rr” genotype. GAMETES – Special reproductive CELLS of any organism that reproduces “Sexually”. Gametes contain only HALF of the genetic information of other “normal” body cells. In HUMANS, male SPERM CELLS and female EGGS are GAMETES. Each of these cells contain only 23 chromosomes and are referred to as HAPLOID CELLS. This differs from normal human body cells that contain 23 PAIRS of Chromosomes for a total of 46 Chromosomes per cell. Gametes are produced by a special type of cell division called MEIOSIS. GENES – Factors that determine the traits that will be present in an organism. Genes are small sections of the DNA contained within chromosomes of an individual and are the basic units of information passed along from generation to generation through inheritance. Each chromosome contains a large number of trait genes ranging from as few as 230 trait genes to as many as 2988 trait genes in a single chromosome pair. GENETICS – The scientific field of Biology that studies genes and heredity GENETIC TRAITS – See “TRAITS” GENOTYPE – The expression of the ALLELES in a pair of chromosomes, such as “YY”, or Yy” or “yy”. (See ALLELES for further clarification) HAPLOID CELL – Special reproductive CELLS that contain only HALF THE NUMBER OF CHROMOSOMES that other body cells contain. Gametes, which are the sperm and egg cells in humans are examples of Haploid Cells. Each human “Egg” or “Sperm” cell contains only 23 chromosomes which represents ONE HALF of each of the 23 PAIRS of chromosomes that all other cells in the human body contain. Gametes, or Haploid Cells are produced by a special cell division process called MEIOSIS. HEREDITY - The transfer of characteristics or biological traits from parent to offspring through their genes. HETEROZYGOUS – An organism that has TWO DIFFERENT ALLELES for a particular trait. Heterozygous Genotypes are also referred to as “HYBRIDS”. Example: Genotype “Rr”. HOMOZYGOUS – An organism that has TWO IDENTICAL ALLELES for a particular trait. Homozygous Genotypes are also referred to as PUREBREEDS. Example: Genotypes “RR” or “rr”. ***NOTE – A Genotype can be either “Homozygous Dominant” such as “RR” or Homozygous Recessive” such as “rr” but in either case, the organism is still labeled as being a Homozygous Genotype. HOMOZYGOUS DOMINANT – See “NOTE” under HOMOZYGOUS for clarification HOMOZYGOUS RECESSIVE – See “NOTE” under HOMOZYGOUS for clarification. HYBRID – An organism with a HETEROZYGOUS Genotype, meaning it has two different Alleles for a particular trait. Example: “Rr”. (This results from cross breeding between two dissimilar parents) INHERITED TRAITS – See “TRAITS” MEIOSIS – A special type of cell division that produces GAMETES, (Egg and Sperm cells), in male and female organisms that reproduce “sexually”. Meiosis accomplishes THREE MAJOR TASKS: (1) it reduces the number of chromosomes in gametes to half of all the chromosomes found in normal body cells, (2) it forms cells that will allow each parent to contribute EQUAL AMOUNTS of genetic information to their offspring, and (3) it creates gene combinations in the offspring that are distinct from the parents. MEIOSIS “MATH” – Male Meiosis – 1 Normal Diploid Cell = 4 Haploid Sperm Cells Female Meiosis – 1 Normal Diploid Cell = 1 Haploid Egg Cell Examples – Male Cell Meiosis 1. Organism with 1 Pair of Chromosomes in a normal Diploid Cell A. Start – 1 Diploid Cell has 1 Pair of Chromosomes, 2 total Chromosomes B. Replication – All Chromosomes in original cell duplicate creating one cell containing 2 Pairs of Chromosomes, 4 total Chromosomes C. First Division – Cell divides into 2 separate cells, with EACH CELL containing 1 Pair of Chromosomes, 2 total Chromosomes, PER CELL. (4 Chromosomes total in 2 separate cells) D. Second Division – Each of the 2 cells from the first division divide in half creating a total of 4 Sperm cells, (also called Gametes). Each of these sperm cells have 1 Chromosome that is the same as one of the chromosomes from the original diploid cell. (4 Chromosomes Total in 4 separate cells) 2. Meiosis of a Human Diploid Cell A. Start –1 Diploid Cell has 23 Pairs of Chromosomes, 46 total Chromosomes B. Replication – All Chromosomes in original cell duplicate creating one cell containing 46 Pairs of Chromosomes, 92 total Chromosomes C. First Division – Cell divides into 2 separate cells, with EACH CELL containing 23 Pairs of Chromosomes, 46 total Chromosomes, PER CELL. (92 Chromosomes total in 2 separate cells) D. Second Division – Each of the 2 cells from the first division divide in half creating a total of 4 Sperm cells, (also called Gametes). Each of these sperm cells have 23 Chromosomes, 1 chromosome from EACH PAIR of chromosomes that were in the original diploid cell. (92 Chromosomes total in 4 separate cells) MITOSIS – The process by which normal diploid cells divide, resulting in NEW CELLS that are IDENTICAL to the original diploid cells before the division occurred. In most organisms, Mitosis occurs continuously as normal diploid cells divide in order to replace cells that die naturally or due to injuries or disease. Another example of Mitosis occurs following the development of a ZYGOTE Cell as part of the conception process. After an egg and sperm fuse to form and new diploid cell, (the Zygote), this new cell begins a series of Mitosis divisions resulting in the formation of an embryo and the beginning of a new offspring. PEDIGREE - A diagram or chart of a family's genealogy that shows family members' relationships to each other and how a particular trait or disease has been inherited PHENOTYPE – Describes the APPEARANCE OR OBSERVABLE TRAITS of an individual. The Phenotype is primarily determined by the GENOTYPE. Example: If the alleles for hair color are “R” for Red Hair and “r” for Brown Hair, an “RR” or “Rr” Genotype would result in Phenotype “Red Hair” and a Genotype of “rr” would result in a Phenotype “Brown Hair”. ***NOTE – Phenotype can be impacted by environmental factors in some situations. For example, an individual may have the “Genotype” to become TALL but a lack of proper nutrition might prevent the normal growth pattern that is directed by the Genotype. Thus, Phenotype can be the result of a combination of both GENES and ENVIRONMENT in some circumstances. PRINCIPLE OF INDEPENDENT ASSORTMENT – During Meiosis, chromosome pairs separate “independently”. Independent Assortment occurs because genes for different traits may be located in different chromosomes and the alignment or movement of one chromosome during Meiosis IS NOT dependent on the movement of other chromosomes. Therefore, the formation of Gametes contain a random assortment of genes depending on how the chromosome pairs align and then separate during Meiosis. PRINCIPLE OF SEGRATION – This principle states that “offspring” receive alleles from each parent. Genes are located in chromosomes in the form of Alleles which are versions of each Gene. Each Normal Organism Cell contains “Pairs” of Chromosomes, one from each parent, therefore, each “pair” of Chromosomes contains one Allele or version of each gene from each parent. During Meiosis, each “pair” of Chromosomes separate and only ONE Chromosome FROM EACH PAIR is present in the reproductive Gamete, (the Egg or Sperm). SEGRATION has occurred because each Gamete contains only ONE ALLELE for each Gene Trait. PROBABILITY – In Heredity, probability involves predicting the chances that a certain genetic trait will develop in an offspring based on the known Genotypes of each parent for the trait being predicted. Predicting the Genotypes of offspring is based on mathematical percentages which may prove accurate when comparing thousands of examples. However, due to the complexity of the reproductive process and the many variables in the Meiosis process, it would be nearly impossible to accurately predict the probability of a specific Genotype appearing in a small sample of offspring from one set of parents. PUREBRED – Any organism with a HOMOZYGOUS Genotype for a particular trait. Example: “RR” or “rr”. (Offspring reproduced from these types of organisms will continue to express this same trait from generation to generation) RECESSIVE GENE – The form of a gene that is only expressed when a dominate form of the gene is not present. Example: If the alleles for hair color are “R” for Red Hair and “r” for Brown Hair, a gene that contains the alleles “rr” will result in the offspring having Brown Hair because there is no dominant allele present in the gene. REPRODUCTION GENERAL - biological process by which new individual organisms are produced. Reproduction is a fundamental feature of all known life; each individual organism exists as the result of reproduction. The known methods of reproduction are broadly grouped into two main types: SEXUAL and ASEXUAL. REPRODUCTION, ASEXUAL - In asexual reproduction, an organism can reproduce without involvement with another organism of that species. The division of a parent cell into two daughter cells is an example of asexual reproduction. Most plants have the ability to reproduce asexually. Asexual reproduction results in offspring with very little if any variation from the parent cell. REPRODUCTION, SEXUAL - Sexual reproduction requires the involvement of two individuals, typically one of each sex. This reproduction process involves the sharing of genetic information from each sex and insures there will be variation in the species because each offspring receives two chromosomes and two copies of each gene, one from each parent. Normal human reproduction is a common example of sexual reproduction. SEXUAL REPRODUCTION – See “Reproduction, Sexual” TRAITS – Characteristics that an organism can pass on to its offspring. Also called Inherited Traits or Genetic Traits. Examples are: height, hair color, blood type, eye color, baldness, genetic diseases such as Muscular Dystrophy. ***NOTE – some disorders can be passed along from parent to offspring via blood or body fluids that are NOT Genetic Traits such as AIDS, or Drug and Alcohol dependence. ZYGOTE – The single cell that results from the joining of the Egg and Sperm. The Zygote will have matching pairs of chromosomes, each pair is composed of one chromosome from the egg and one chromosome from the sperm. The resulting Zygote will have 23 Pairs of Chromosomes and is thus a Diploid Cell.