Genetics Notes. Chromosomes and DNA 11/15/2012. Structures that contain DNA, look like worms, can be seen during mitosis = chromosomes.

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1 chromosomes Genetics Notes Chromosomes and Structures that contain, look like worms, can be seen during mitosis = chromosomes. Chromosomes: made of coiled around protiens. Accurate copying of chromosomes during cell division (MITOSIS) is critical. The structure of Eukaryotic chromosomes Centromere Sister chromatids Chromosome Histone H1 Supercoil within chromosome Nucleosome Continued coiling within supercoil In, the amount of adenine (A) is always equal to the amount of thymine (T), and the amount of guanine (G) is always equal to the amount of cytosine (C). The structure of nucleotides is made of repeating subunits called NUCLEOTIDES. Phosphate group Nitrogenous base The structure of nucleotides A nitrogenous base is a carbon ring structure that contains one or more atoms of nitrogen. In, there are four possible nitrogenous bases: adenine (A), guanine (G), cytosine (C), and thymine (T). Sugar (deoxyribose) three parts: a simple sugar, a phosphate group, and a nitrogenous base. Adenine (A) Guanine (G) Cytosine (C) Thymine (T) 1

2 Chromosome nucleotide sequences The sequence of nucleotides forms a genetic code for an organism. The closer the relationship between two organisms, the more similar their nucleotide sequences. (think CSI) Replication of Before a cell can divide (mitosis or meiosis), first must make a copy of its /chromosomes. /chromosomes during process called Replication. Or Synthesis Without Replication, new cells would only have half the of the parent cell. Copying is copied during interphase prior to mitosis and meiosis. It is important that the new copies are exactly like the original molecules. Replication (Synthesis) Original Strand New Strand New molecule Free Nucleotides Original Strand New molecule Original Think : Watch video clip of replication, then try to narrate with sound off Replication of During each replication cycle, part of the old strand of is preserved Replication Replication like, is a nucleic acid. structure differs from structure in three ways. First, is single stranded it looks like one-half of a zipper whereas is double stranded. 2

3 The sugar in is ribose; s sugar is deoxyribose. Ribose Both and contain four nitrogenous bases, but rather than thymine, contains a similar base called uracil (U). Uracil Hydrogen bonds Adenine Uracil forms a base pair with adenine in, just as thymine does in. Comparing nucleic acids Double Stranded Deoxyribose Sugar A T G C Only in nucleus One kind Master Copy Single Stranded Ribose Sugar A U G C Can leave nucleus 3 kinds (m, r, t) Always a copy of, never original During transcription, a molecule of m is manufactured following the code. strand strand strand Transcription C strand Transcription Steps: is uncoiled and unzipped Free nucleotides are brought in. Free nucleotides bind following the same rules as replication (with one exception) A-U and G-C Ex -AAA TTT GGG CCC -UUU AAA CCC GGG In prokaryotic cells, which have no nucleus, the m is made in the cytoplasm. Translation: From m to Protein Translation: the process of converting the information in m into a sequence of amino acids in protein. Happens at ribosomes (r). a ribosome attaches to the m like a clothespin clamped onto a clothesline. the role of transfer (t) is to bring the 20 different amino acids dissolved in the cytoplasm to the ribosomes. 3

4 Each t molecule attaches to only one type of amino acid. The m codon determines the amino acid that is attached to the t. transfer Chain of nucleotides Amino acid Transfer molecule 1 Ribosome m codon 3 Amino Acids Translation 2 4 t anticodon m Anticondon Translation A chain of amino acids is formed until the stop codon is reached on the m strand. 5 Growing protein Amino Acids Stop codon Peptide bonds Mutations Organisms have evolved many ways to protect their from changes. In spite of these mechanisms, however, changes in the occasionally occur. Any change in sequence is called a mutation. Mutations can be caused by errors in replication, transcription, cell division, or by external agents (mutagens). Mutations in reproductive cells Mutations can affect the reproductive cells of an organism. If changes happen in the genes or chromosomes of sperm, eggs, or during fertilization, the genes of the offspring will be affected (mutated). Mutations in reproductive cells The mutation may produce a new trait, or result in a protein that does not work correctly. Sometimes, the mutation results in a protein that is nonfunctional, and the embryo may not survive. In rare cases, a mutation may have positive effects. 4

5 Mutations in body cells What happens if powerful radiation, such as gamma radiation, hits the of a nonreproductive cell, a cell of the body such as in skin, muscle, or bone? this mutation would not be passed on to offspring. However, the mutation may cause problems for the individual. Mutations in body cells Damage to a gene may impair the function of the cell. When that cell divides, the new cells also will have the same mutation. Some mutations of in body cells affect genes that control cell division. This can result in the cells growing and dividing rapidly, producing cancer. The effects of point mutations A point mutation is a change in a single base pair in. The effects of point mutations m A change in a single nitrogenous base can change a protein because a change in a single amino acid can affect the structure of the protein. Normal Protein Replace G with A Stop Examples of point mutations: Sickle cell anemia, Tay Sachs disease m Stop Point mutation Protein Frameshift mutations What would happen if a single base were lost from a strand? Frameshift mutations This new sequence would be transcribed into m. But, the m would be out of position by one base. As a result, every codon after the deleted base would be different. This would cause every amino acid after the deletion to be changed. Deletion of U Frameshift mutation This is called a frameshift mutation because it shifts the reading frame of codons by one base. m Protein 5

6 Chromosomal mutations A B C D E F G H A B C E F G H A B C D E F G H A B C B C D E F G H A B C D E F G H A D C B E F G H Notes Chromosomal Abnormalities Karyotype: Chart of chromosome pairs. Picture taken during mitosis (metaphase). Identifies unusual chromosome numbers or sizes. A B C D E F G H Down Syndrome: (Trisomy 21) 3 chromosome 21 s caused by nondisjunction distinct facial features mental retardation reduced life span 0.12% occurrence Normal Male Down Syndrome Male Klinefelter s Syndrome: Normal Male XXY male caused by nondisjunction low testosterone tall no secondary male characteristics sterility 0.2% occurrence Klinefelter Male Turner s Syndrome: X_ female caused by nondisjunction sterility short slowed sexual development 0.02% occurrence Turner female Normal Female 6

7 Human Karyotype Lab (nbp 82-83) Purpose: to learn what a normal human karyotpye looks like and to learn how many chromosomes normal humans have Pre-lab questions: 1. How many chromosomes do normal humans have? 2. What is a homologous chromosome? Hypothesis: (predict whether your karyotype will be normal, abnormal, male, or female) Materials Partners Procedure: Follow steps 1-5 from the Karyotype lab 20 Why? There must be another form of cell division that allows offspring to have the same number of chromosomes as their parents. This kind of cell division, which produces gametes containing half the number of chromosomes as a body cell, is called meiosis. Fertilization Egg Cell Diploid zygote (2n=46) Sperm Cell Haploid gametes (n=23) Mitosis & Development Multicellular diploid adults (2n=46) Mitosis This pattern of reproduction, involving the production and fusion of haploid sex cells, is called sexual reproduction. Anaphase I Prophase I Metaphase I Telophase I During, a sperm or egg is formed following this diagram and the number of chromosomes is reduced by ½ Telophase II Anaphase II Metaphase II Anaphase II consists of two divisions, meiosis I and meiosis II. I begins with one diploid (2n) cell. These haploid cells are called sex cells gametes. Male gametes are called sperm. Female gametes are called eggs. By the end of meiosis II, there are four haploid (n) cells. When a sperm fertilizes an egg, the resulting zygote once again has the diploid number of chromosomes. 7

8 Possible gametes MEIOSIS I MEIOSIS II Possible gametes Chromosome A Chromosome B Chromosome a Chromosome b a source of variation among organisms. Use your book (p ) and the green biology book (p ) to understand MEIOSIS and answer my questions: (more realistic diagram p easiest to draw, p. 270) 1- What is meiosis? 2- What kind of cells undergo meiosis? 3- Draw a diagram that shows cells undergoing meiosis. You must include the chromosomes. (start with one cell and end with 4) Best posters get XC 4- How many chromosomes were there at the start of meiosis? How many chromosomes are in each of the 4 new cells at the end of meiosis. 5- after you and a partner completely understand meiosis, explain why meiosis is necessary for sexually reproducing organisms and not for asexually reproducing organisms. Business Normal hrs today STAR test review to learn: punnett squares Genetic Engineering Evolution Anatomy/physiology Notebooks next friday Problem-Solving lab minilab Karyotype lab = LAB POINTS DQ s Daily questions Unit 3, set 9 ( ) 1. What is evolution? 2. An allele is 3. A dominant allele will.. Answers 1- change over time driven by natural selection. 2- one form of a gene 3- always show up in the phenotype (always be transcribed and translated) Homologous Chromosomes Terminal Inflated a D T A d t Axial Constricted The two chromosomes of each pair in a diploid cell are called homologous chromosomes. Each has genes for the same traits. Tall Short 8

9 Diploid and haploid cells Chromosome Numbers of Common Organisms Organism Body Cell (2n) Gamete (n) Fruit fly 8 4 Garden pea 14 7 Corn Tomato Leopard Frog Apple 34 Human 46 Chimpanzee 48 Dog 78 Adder s tongue fern This fact supports Mendel s conclusion that parent organisms give one allele for each trait to each of their offspring. Male parent (2n) Nondisjunction Punnett Squares Female parent (2n) Nondisjunction Abnormal gamete (2n) Zygote (4n) Nondisjunction Abnormal gamete (2n) The first generation Dihybrid Cross round yellow x wrinkled green P 1 Round yellow Wrinkled green F 1 All round yellow F Round yellow Round green Wrinkled yellow Wrinkled green 9

10 Monohybrid crosses Heterozygous tall parent T t T t T t T t Heterozygous tall parent T t T TT Tt t Tt tt A Punnett square for this cross is two boxes tall and two wide because each parent can produce two kinds of gametes for this trait. R Probability r RR Rr R Rr rr r The Punnett square shows the possibility of three plants with round seeds out of four total plants, so the probability is ¾ (75%) that the offspring will be round, and ¼ or (25%) that the offspring will be wrinkled. Show punnett square video clip Punnet Square of Dihybrid Cross Punnet Squares Title your paper: Punnet Square Practice: Completely answer the following questions 1- Cross 2 brown haired parents with the genotypes: Bb and Bb. Use a punnet square to Determine the genotypic and phenotypic probabilities or % s of their potential offspring. 2- If D= dark and d=light, Cross a heterozygous dark skinned parent with a light skinned parent and use a p. square to determine the genotypic and phenotypic probabilities or % s of their potential offspring. 3- If T=tall and t=short, Cross a Homozygous tall plant with a heterozygous tall plant and use a p. square to determine the genotypic and phenotypic probabilities or % s of their potential offspring. 10

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