Genetics Chapter 9-11. Gregor Mendel 1850’s The father of Genetics Genetic – Branch of biology that studies heredity Heredity –biological process whereby.

Genetics Chapter 9-11

Gregor Mendel 1850’s The father of Genetics Genetic – Branch of biology that studies heredity Heredity –biological process whereby genetic factors are transmitted from one generation to the next Inheritance -attributes acquired via biological heredity from the parents

Mendel Mendel discovered the basic principles of heredity by breeding garden peas in carefully planned experiments Self pollination - Transfer of pollen from an anther to a stigma of the same flower. These were “pure” plants Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Fig. 14-1

Mendel’s Experimental, Quantitative Approach Advantages of pea plants for genetic study: – There are many varieties with distinct heritable features, or characters (such as flower color); character variants (such as purple or white flowers) are called traits – Mating of plants can be controlled – Each pea plant has sperm-producing organs (stamens) and egg- producing organs (carpels) – Cross-pollination - fertilization between different plants, can be achieved by dusting one plant with pollen from another Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Fig. 14-2 TECHNIQUE RESULTS Parental generation (P) Stamens Carpel 1 2 3 4 First filial generation offspring (F 1 ) 5

In a typical experiment, Mendel mated two contrasting, true-breeding varieties, a process called hybridization The true-breeding parents are the P generation The hybrid offspring of the P generation are called the F 1 generation When F 1 individuals self-pollinate, the F 2 generation is produced Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Mendel chose to track only those characters that varied in an either-or manner He also used varieties that were true-breeding (plants that produce offspring of the same variety when they self-pollinate) Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

The Law of Segregation When Mendel crossed contrasting, true- breeding white and purple flowered pea plants, all of the F 1 hybrids were ? When Mendel crossed the F 1 hybrids, many of the F 2 plants had ? Mendel discovered a ratio Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Fig. 14-3-1 EXPERIMENT P Generation (true-breeding parents) Purple flowers White flowers 

Fig. 14-3-2 EXPERIMENT P Generation (true-breeding parents) Purple flowers White flowers  F 1 Generation (hybrids) All plants had purple flowers

Fig. 14-3-3 EXPERIMENT P Generation (true-breeding parents) Purple flowers White flowers  F 1 Generation (hybrids) All plants had purple flowers F 2 Generation 705 purple-flowered plants 224 white-flowered plants

Mendel reasoned that only the purple flower factor was affecting flower color in the F 1 hybrids Mendel called the purple flower color a dominant trait and the white flower color a recessive trait Mendel observed the same pattern of inheritance in six other pea plant characters, each represented by two traits What Mendel called a “heritable factor” is what we now call a gene Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Table 14-1

Mendel’s Model Mendel developed a hypothesis to explain the 3:1 inheritance pattern he observed in F 2 offspring Three principles of Mendel’s were formed These concepts can be related to what we now know about genes and chromosomes Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

The first concept is the principle of dominance and recessiveness the dominant allele determines the organism’s appearance, and the the recessive allele has no noticeable effect on appearance In the flower-color example, the F 1 plants had purple flowers because the allele for that trait is dominant Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

The second concept, now known as the law of segregation, states that the two factors separate (segregate) during gamete formation and end up in different gametes Thus, an egg or a sperm gets only one of the two alleles that are present in the somatic cells of an organism This segregation of alleles corresponds to the distribution of homologous chromosomes to different gametes in meiosis Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Mendel’s segregation model accounts for the 3:1 ratio he observed in the F 2 generation of his numerous crosses A capital letter represents a dominant allele, and a lowercase letter represents a recessive allele Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Fig. 14-5-3 P Generation Appearance: Genetic makeup: Gametes: Purple flowers White flowers PP P pp p F 1 Generation Gametes: Genetic makeup: Appearance: Purple flowers Pp P p 1/21/2 1/21/2 F 2 Generation Sperm Eggs P P PPPp p p pp 31

Fig. 14-6 Phenotype Purple 3 Genotype 1 White Ratio 3:1 (homozygous) (heterozygous) PP Pp pp Ratio 1:2:1 1 1 2

The Law of Independent Assortment Mendel derived the law of segregation by following a single character Using a dihybrid cross, Mendel developed the law of independent assortment The law of independent assortment states that each factors (pair of alleles) segregates independently of each other during gamete formation However, genes located near each other on the same chromosome tend to be inherited together Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Fig. 14-8 EXPERIMENT RESULTS P Generation F 1 Generation Predictions Gametes Hypothesis of dependent assortment YYRRyyrr YR yr YyRr  Hypothesis of independent assortment or Predicted offspring of F 2 generation Sperm YR yr Yr YR yR Yr yR yr YR YYRR YyRr YYRr YyRR YYrr Yyrr yyRR yyRr yyrr Phenotypic ratio 3:1 Eggs Phenotypic ratio 9:3:3:1 1/21/2 1/21/2 1/21/2 1/21/2 1/41/4 yr 1/41/4 1/41/4 1/41/4 1/41/4 1/41/4 1/41/4 1/41/4 1/41/4 3/43/4 9 / 16 3 / 16 1 / 16 Phenotypic ratio approximately 9:3:3:1 31510810132

Useful Genetic Vocabulary Alleles – an alternative form of a gene, For example, the gene for flower color in pea plants exists in two versions, one for purple flowers and the other for white flowers A capital letter represents a dominant allele which is the gene expressed, and a lowercase letter represents the masked recessive allele Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Because of the different effects of dominant and recessive alleles, an organism’s traits do not always reveal its genetic composition Therefore, we distinguish between an organism’s phenotype, or physical appearance, and its genotype, or genetic makeup In the example of flower color in pea plants, plants have the same phenotype purple but different genotypes PP and Pp Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

An organism with two identical alleles for a character is said to be homozygous ex –PP, pp An organism that has two different alleles for a gene is said to be heterozygous ex- Pp

Useful vocab The possible combinations of sperm and egg can be shown using a Punnette square, a diagram for predicting the results of a genetic cross between individuals of known genetic makeup

Concept 14.2: The laws of probability govern Mendelian inheritance Mendel’s laws of segregation and independent assortment reflect the rules of probability Probability -The outcome or likelihood an event will occur When tossing a coin, the outcome of one toss has no impact on the outcome of the next toss In the same way, the alleles of one gene segregate into gametes independently of another gene’s alleles Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Fig. 14-4 Allele for purple flowers Homologous pair of chromosomes Locus for flower-color gene Allele for white flowers

Fig. 14-9 Rr  Segregation of alleles into eggs Sperm R R R R R R r r r r r r 1/21/2 1/21/2 1/21/2 1/21/2 Segregation of alleles into sperm Eggs 1/41/4 1/41/4 1/41/4 1/41/4

The rule of addition states that the probability that any one of two or more exclusive events will occur is calculated by adding together their individual probabilities + or The rule of addition can be used to figure out the probability that an F 2 plant from a monohybrid cross will be heterozygous rather than homozygous Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

The multiplication rule states that the probability that two or more independent events will occur together is the product of their individual probabilities x and Probability in an F 1 monohybrid cross can be determined using the multiplication rule Segregation in a heterozygous plant is like flipping a coin: Each gamete has a chance of carrying the dominant allele and a chance of carrying the recessive allele The Multiplication and Addition Rules Applied to Monohybrid Crosses Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Lets Practice Monohybrid cross one pair of contrasting traits TT always 4:0 Tall to short Tt x Tt 3:1 Tt x tt 2:2 Dihybrid cross two pairs of contrasting traits Use the FOIL method 16 boxes

The Testcross How can we tell the genotype of an individual with the dominant phenotype? Such an individual must have one dominant allele, but the individual could be either homozygous dominant or heterozygous The answer is to carry out a testcross: breeding the mystery individual with a homozygous recessive individual If any offspring display the recessive phenotype, the mystery parent must be heterozygous Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Fig. 14-7 TECHNIQUE RESULTS Dominant phenotype, unknown genotype: PP or Pp? Predictions Recessive phenotype, known genotype: pp  If PPIf Pp or Sperm ppp p P P P p Eggs Pp pp or All offspring purple 1 / 2 offspring purple and 1 / 2 offspring white

Fig. 14-7b RESULTS All offspring purple or 1 / 2 offspring purple and 1 / 2 offspring white

Meiosis At sexual maturity, the ovaries and testes produce haploid gametes Gametes are the only types of human cells produced by meiosis, rather than mitosis Meiosis results in one set of chromosomes in each gamete

Phases of Meiosis I PMAT In the first cell division (meiosis I), homologous chromosomes match up in Pro I and separate in Ana I Meiosis I results in two haploid daughter cells with replicated chromosomes; it is called the reductional division Haploid (n)

Prophase I 90% of the time required for meiosis Chromosomes begin to condense In synapsis, homologous chromosomes loosely pair up, aligned gene by gene Each pair of chromosomes forms a tetrad, a group of four chromatids In crossing over, nonsister chromatids exchange DNA segments

Meiosis II PMAT In the second cell division (meiosis II), sister chromatids separate Meiosis II results in four haploid daughter cells Still haploid In males formed 4 sperm, In females formed 1 egg (ootid) the others die they are called polar bodies 2^23 = 0ver 8 million combination not even including crossing over

Concept 14.3: Inheritance patterns are often more complex than predicted by simple Mendelian genetics The relationship between genotype and phenotype is rarely as simple as in the pea plant characters Mendel studied Many heritable characters are not determined by only one factor(gene) with two alleles However, the basic principles of segregation and independent assortment apply even to more complex patterns of inheritance Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

After Mendel Walter Sutton (1902) observed the process of meiosis Found genes on the chromosomes He validated Mendel’s 2 last principles

After Mendel Thomas H. Morgan discovers sex-linked genes in fruit flies The Chromosomal Theory developed by Thomas Hunt Morgan Nobel Prize 1933discovers sex-linked genesNobel Prize 1933 XY males are hemizygous [one allele on X and non on Y chromosome] XX female X linked inherited human conditions are rare.

Extending Mendelian Genetics for a Single Gene Inheritance of characters by a single gene may deviate from simple Mendelian patterns in the following situations: – When alleles are not completely dominant or recessive – When a gene has more than two alleles – When a gene produces multiple phenotypes Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Degrees of Dominance ( Complete dominance occurs when phenotypes of the heterozygote and dominant homozygote are identical) (Mendel) In incomplete dominance, the phenotype of F 1 hybrids is somewhere between the phenotypes of the two parental varieties, active and inactive genes, not dominant or recessive ex-flowers In codominance, two dominant alleles affect the phenotype in separate, distinguishable ways ex- sickle cell anemia Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Fig. 14-10-1 Red P Generation Gametes White CRCRCRCR CWCWCWCW CRCR CWCW

Fig. 14-10-2 Red P Generation Gametes White CRCRCRCR CWCWCWCW CRCR CWCW F 1 Generation Pink CRCWCRCW CRCR CWCW Gametes 1/21/2 1/21/2

Fig. 14-10-3 Red P Generation Gametes White CRCRCRCR CWCWCWCW CRCR CWCW F 1 Generation Pink CRCWCRCW CRCR CWCW Gametes 1/21/2 1/21/2 F 2 Generation Sperm Eggs CRCR CRCR CWCW CWCW CRCRCRCR CRCWCRCW CRCWCRCW CWCWCWCW 1/21/2 1/21/2 1/21/2 1/21/2

Sickle-Cell Disease Sickle-cell disease affects one out of 400 African-Americans The disease is caused by the substitution of a single amino acid in the hemoglobin protein in red blood cells Symptoms include physical weakness, pain, organ damage, and even paralysis Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Multiple Alleles Most genes exist in populations in more than two allelic forms A person can only have 2 alleles one from mom and one from dad For example, the four phenotypes of the ABO blood group in humans are determined by three alleles for the enzyme (I) that attaches A or B carbohydrates (antigen) to red blood cells: I A, I B, and i. = O. A,B dominant over O RH antigen on the RBC gives blood a + sign, + blood is dominant over - Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Fig. 14-11 IAIA IBIB i A B none (a) The three alleles for the ABO blood groups and their associated carbohydrates Allele Carbohydrate Genotype Red blood cell appearance Phenotype (blood group) I A I A or I A i A B I B I B or I B i IAIBIAIB AB iiO (b) Blood group genotypes and phenotypes

Polygenic Inheritance Quantitative characters are those that vary in the population along a continuum Quantitative variation usually indicates polygenic inheritance, an additive effect of two or more genes on a single phenotype Skin color in humans is an example of polygenic inheritance Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Fig. 14-13 Eggs Sperm Phenotypes: Number of dark-skin alleles: 0 1 2 345 6 1 / 64 6 / 64 15 / 64 20 / 64 15 / 64 6 / 64 1 / 64 1/81/8 1/81/8 1/81/8 1/81/8 1/81/8 1/81/8 1/81/8 1/81/8 1/81/8 1/81/8 1/81/8 1/81/8 1/81/8 1/81/8 1/81/8 1/81/8 AaBbCc 

Gene Interactions Continued Sex Linked – alleles appear on the X,Y chromosomes ex- Hemophilia and color blindness

Sex limited – traits limited to one sex ex – bearded men dominant, female breast also dominant Sex influenced – genes behave differently in different sexes ex- baldness in women only bb = bald in men BB, Bb = bald

Integrating a Mendelian View of Heredity and Variation An organism’s phenotype includes its physical appearance, internal anatomy, physiology, and behavior An organism’s phenotype reflects its overall genotype and unique environmental history Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Concept 14.4: Many human traits follow Mendelian patterns of inheritance Humans are not good subjects for genetic research –Generation time is too long –Parents produce relatively few offspring –Breeding experiments are unacceptable However, basic Mendelian genetics endures as the foundation of human genetics Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Pedigree Analysis A pedigree is a family tree that describes the interrelationships of parents and children across generations Inheritance patterns of particular traits can be traced and described using pedigrees Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Fig. 14-15 Key Male Female Affected male Affected female Mating Offspring, in birth order (first-born on left) 1st generation (grandparents) 2nd generation (parents, aunts, and uncles) 3rd generation (two sisters) Ww ww Ww ww Ww ww Ww WW or Widow’s peak No widow’s peak (a) Is a widow’s peak a dominant or recessive trait? 1st generation (grandparents) 2nd generation (parents, aunts, and uncles) 3rd generation (two sisters) Ff FF or ff FF or Ff Attached earlobe Free earlobe (b) Is an attached earlobe a dominant or recessive trait?

Fig. 14-15a Key Male Female Affected male Affected female Mating Offspring, in birth order (first-born on left)

Fig. 14-15b 1st generation (grandparents) 2nd generation (parents, aunts, and uncles) 3rd generation (two sisters) Widow’s peakNo widow’s peak (a) Is a widow’s peak a dominant or recessive trait? Wwww Ww ww Ww wwWW Ww or

Fig. 14-15c Attached earlobe 1st generation (grandparents) 2nd generation (parents, aunts, and uncles) 3rd generation (two sisters) Free earlobe (b) Is an attached earlobe a dominant or recessive trait? Ff ffFf ff FFor FF Ff

Fig. 14-UN5 George Sandra TomSam Arlene Wilma AnnMichael Carla DanielAlan Tina Christopher

Pedigrees can also be used to make predictions about future offspring We can use the multiplication and addition rules to predict the probability of specific phenotypes Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

The Behavior of Recessive Alleles Recessively inherited disorders show up only in individuals homozygous for the allele Carriers are heterozygous individuals who carry the recessive allele but are phenotypically normal (i.e., pigmented) Albinism is a recessive condition characterized by a lack of pigmentation in skin and hair Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Fig. 14-16 Parents Normal Sperm Eggs Normal (carrier) Normal (carrier) Albino Aa A A AA Aa a aa a 

If a recessive allele that causes a disease is rare, then the chance of two carriers meeting and mating is low Consanguineous matings (i.e., matings between close relatives) increase the chance of mating between two carriers of the same rare allele Most societies and cultures have laws or taboos against marriages between close relatives Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Mutations are changes in the genetic material of a cell or virus, rare Mutagen chemical or physical agent can cause a mutation ex- radiation, uv, disease, pollutants

Chromosome mutations change chromosome structure/ number Nondisjunction failure of the chromosome to separate Polyploidy total nondisjunction when all the chromosomes fail to separate 3N = 69 chromosomes 4N= 92 chromosomes fatal in humans plants are hardier and larger

Breakage of a chromosome can lead to many changes in chromosome structure: – Deletion removes a chromosomal segment lethal have no gene – Inversion reverses a segment within a chromosome – Translocation moves a segment from one chromosome to another

Fig. 15-15 Deletion (a) (b) (c) (d) Duplication Inversion translocation A A B C D E F G H A D C B E F G H M N O C D E F G H M N O P Q RA B P Q R

Gene Mutations replace nitrogen bases in DNA (codon) Point mutations are chemical changes in just one base pair of a gene The change of a single nucleotide in a DNA template strand can lead to the production of an abnormal protein Point mutations within a gene can be divided into two general categories – Base-pair substitutions – Base-pair insertions or deletions Insertion or deletion of nucleotides may alter the reading frame, producing a frameshift mutation

Fig. 17-23a Wild type 3 DNA template strand 3 3 5 5 5 mRNA Protein Amino end Stop Carboxyl end A instead of G 3 3 3 U instead of C 5 5 5 Stop Silent (no effect on amino acid sequence)

Fig. 17-23b Wild type DNA template strand 3 5 mRNA Protein 5 Amino end Stop Carboxyl end 5 3 3 T instead of C A instead of G 3 3 3 5 5 5 Stop Missense

Fig. 17-23c Wild type DNA template strand 3 5 mRNA Protein 5 Amino end Stop Carboxyl end 5 3 3 A instead of T U instead of A 3 3 3 5 5 5 Stop Nonsense

Fig. 17-23d Wild type DNA template strand 3 5 mRNA Protein 5 Amino end Stop Carboxyl end 5 3 3 Extra A Extra U 3 3 3 5 5 5 Stop Frameshift causing immediate nonsense (1 base-pair insertion)

Genetic Testing and Counseling Genetic counselors can provide information to prospective parents concerned about a family history for a specific disease Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Counseling Based on Mendelian Genetics and Probability Rules Using family histories, genetic counselors help couples determine the odds that their children will have genetic disorders Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Fetal Testing In amniocentesis, 14 th -16 th week, liquid that bathes the fetus is removed and tested In chorionic villi sampling (CVS), 8 th -10 th week a sample of the placenta is removed and tested Karyotype snap shot picture of metaphase that show size, shape and number of the chromosomes Other techniques, such as ultrasound and fetoscopy, allow fetal health to be assessed visually in utero Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings Video: Ultrasound of Human Fetus I Video: Ultrasound of Human Fetus I

Fig. 14-18a Fetus Amniotic fluid withdrawn Placenta Uterus Cervix Centrifugation Fluid Fetal cells Several hours Several weeks Several weeks Bio- chemical tests Karyotyping (a) Amniocentesis

Fig. 14-18b (b) Chorionic villus sampling (CVS) Bio- chemical tests PlacentaChorionic villi Fetus Suction tube inserted through cervix Fetal cells Several hours Several hours Karyotyping

Cystic Fibrosis Cystic fibrosis is the most common lethal genetic disease in the United States,striking one out of every 2,500 people of European descent The cystic fibrosis allele results in defective or absent chloride transport channels in plasma membranes Symptoms include mucus buildup in some internal organs and abnormal absorption of nutrients in the small intestine Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Dominantly Inherited Disorders Some human disorders are caused by dominant alleles Dominant alleles that cause a lethal disease are rare and arise by mutation Achondroplasia is a form of dwarfism caused by a rare dominant allele Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Fig. 14-17 Eggs Parents Dwarf Normal Dwarf Sperm Dd  dd d D Dd dd Dd d d

Huntington’s disease is a degenerative disease of the nervous system The disease has no obvious phenotypic effects until the individual is about 35 to 40 years of age Huntington’s Disease Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Tests for Identifying Carriers For a growing number of diseases, tests are available that identify carriers and help define the odds more accurately Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Fig. 14-18 Amniotic fluid withdrawn Fetus Placenta Uterus Cervix Centrifugation Fluid Fetal cells Several hours Several weeks Several weeks (a) Amniocentesis (b) Chorionic villus sampling (CVS) Several hours Several hours Fetal cells Bio- chemical tests Karyotyping Placenta Chorionic villi Fetus Suction tube inserted through cervix

Newborn Screening Some genetic disorders can be detected at birth by simple tests that are now routinely performed in most hospitals in the United States Copyright © 2008 Pearson Education Inc., publishing as Pearson Benjamin Cummings

Fig. 14-UN2 Degree of dominance Complete dominance of one allele Incomplete dominance of either allele Codominance Description Heterozygous phenotype same as that of homozygous dominant Heterozygous phenotype intermediate between the two homozygous phenotypes Heterozygotes: Both phenotypes expressed Multiple alleles Pleiotropy In the whole population, some genes have more than two alleles One gene is able to affect multiple phenotypic characters CRCRCRCR CRCWCRCW CWCWCWCW IAIBIAIB I A, I B, i ABO blood group alleles Sickle-cell disease PP Pp Example

Fig. 14-UN3 Description Relationship among genes EpistasisOne gene affects the expression of another Example Polygenic inheritance A single phenotypic character is affected by two or more genes BbCc BC bC Bc bc 9 : 3: 4 AaBbCc

Fig. 14-UN4

Fig. 14-UN11

Genetics Chapter 9-11. Gregor Mendel 1850’s The father of Genetics Genetic – Branch of biology that studies heredity Heredity –biological process whereby.

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Genetics Chapter 9-11. Gregor Mendel 1850’s The father of Genetics Genetic – Branch of biology that studies heredity Heredity –biological process whereby.

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Presentation on theme: "Genetics Chapter 9-11. Gregor Mendel 1850’s The father of Genetics Genetic – Branch of biology that studies heredity Heredity –biological process whereby."— Presentation transcript:

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