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• Discussion sections start next week. You will take a short pre-concept test-bring a pencil (it will not influence your grade in the course).

• First Faculty Fellows Dining with Students lunch next Tuesday, Sept. 10, Noon, Jester City Limits.

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.

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. • Pedigrees can also be used to make predictions about future offspring.

Key Male Female Affected male Affected female 1st generation Mating Offspring 1st generation 2nd generation Ff Ff ff Ff Ww ww ww Ww 2nd generation FF or Ff ff ff Ff Ff ff Ww ww ww Ww 3rd generation Ww ww 3rd generation ff FF or Ff WW or Ww Widow’s peak ww No widow’s peak Attached earlobe Free earlobe (a) Is a widow’s peak a dominant or recessive trait? b) Is an attached earlobe a dominant or recessive trait? .

. • These range from relatively mild to lifethreatening.Recessively Inherited Disorders • Many genetic disorders are inherited in a recessive manner.

• Albinism is a recessive condition characterized by a lack of pigmentation in skin and hair.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. most individuals with recessive disorders are born to carrier parents. .

Parents Normal Aa Sperm A a Aa Normal (carrier) aa Albino Normal Aa Eggs A AA Normal Aa Normal (carrier) a .

• However. • Most societies and cultures have laws or taboos against marriages between close relatives. matings between close relatives increase the chance of mating between two carriers of the same rare allele.• If a recessive allele that causes a disease is rare. . then the chance of two carriers meeting and mating is low.

• The cystic fibrosis allele results in defective or absent chloride transport channels in plasma membranes leading to a buildup of chloride ions outside the cell. striking one out of every 2.Cystic Fibrosis • Cystic fibrosis is the most common lethal genetic disease in the United States. • Symptoms include mucus buildup in some internal organs and abnormal absorption of nutrients in the small intestine. .500 people of European descent.

pain. organ damage. • Symptoms include physical weakness. .Sickle-Cell Disease: A Genetic Disorder with Evolutionary Implications • Sickle-cell disease affects one out of 400 African-Americans. • In homozygous individuals. all hemoglobin is abnormal (sickle-cell). and even paralysis. • The disease is caused by the substitution of a single amino acid in the hemoglobin protein in red blood cells.

. This is the reason that the allele remains in the population. so there is an obvious advantage to being heterozygous in some environments. 14-UN1 • Heterozygotes (said to have sickle-cell trait) are usually healthy but may suffer some symptoms.Fig. • About one out of ten African Americans has sickle cell trait. • Heterozygotes are less susceptible to the malaria parasite. an unusually high frequency of an allele with detrimental effects in homozygotes.

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.

Parents Dwarf Dd Sperm D Eggs d Dd Dwarf Dd Dwarf dd Normal Normal dd d d dd Normal .

• The disease has no obvious phenotypic effects until the individual is about 35 to 40 years of age.Huntington’s Disease: A Late-Onset Lethal Disease • The timing of onset of a disease significantly affects its inheritance. • Once the deterioration of the nervous system begins the condition is irreversible and fatal. . • Huntington’s disease is a degenerative disease of the nervous system.

• Little is understood about the genetic contribution to most multifactorial diseases.Multifactorial Disorders • Many diseases. alcoholism. . such as heart disease. mental illnesses. diabetes. and cancer have both genetic and environmental components.


• Using family histories. genetic counselors help couples determine the odds that their children will have genetic disorders. • For a growing number of diseases. predicted probabilities may change as new information is available. tests are available that identify carriers and help define the odds more accurately. • Probabilities are predicted on the most accurate information at the time.Genetic Testing and Counseling • Genetic counselors can provide information to prospective parents concerned about a family history for a specific disease. .

• The location of a particular gene can be seen by tagging isolated chromosomes with a fluorescent dye that highlights the gene. • Today we can show that genes are located on chromosomes. .Locating Genes Along Chromosomes • Mendel’s “hereditary factors” were genes.

• The chromosome theory of inheritance states: – Mendelian genes have specific loci (positions) on chromosomes. • The behavior of chromosomes during meiosis can account for Mendel’s laws of segregation and independent assortment. – Chromosomes undergo segregation and independent assortment. .Mendelian inheritance has its physical basis in the behavior of chromosomes • Mitosis and meiosis were first described in the late 1800s.

1 1 R r Anaphase I Y R 2 Y Y R 1/ 4YR r Y r R y r Metaphase II Y y R 2 y y y r 1/ 4 Gametes Y R y r yr Y r 1/ 4 Y r Yr R y y R 1/ 4 yR F2 Generation 3 Fertilization recombines the R and r alleles at random. . F1 Generation R y r Y Meiosis R r Y y LAW OF SEGREGATION The two alleles for each gene separate during gamete formation.P Generation Y Y R R Yellow-round seeds (YYRR)  y Meiosis Fertilization Gametes R Y y r ry r Green-wrinkled seeds (yyrr) All F1 plants produce yellow-round seeds (YyRr). An F1  F1 cross-fertilization 9 : 3 : 3 : 1 3 Fertilization results in the 9:3:3:1 phenotypic ratio in the F2 generation. R Y r Metaphase I y r R Y y LAW OF INDEPENDENT ASSORTMENT Alleles of genes on nonhomologous chromosomes assort independently during gamete formation.

Morgan’s Experimental Evidence: Scientific Inquiry • The first solid evidence associating a specific gene with a specific chromosome came from Thomas Hunt Morgan (18661945). • Morgan. an American embryologist. provided convincing evidence that chromosomes are the location of Mendel’s heritable factors. in a series of experiments starting in about 1910 with fruit flies (Drosophila melanogaster). .

Morgan’s Choice of Experimental Organism • Several characteristics make fruit flies a convenient organism for genetic studies: – They produce many offspring. – They have only four pairs of chromosomes. – A generation can be bred every two weeks. .

phenotypes that were common in the fly populations. • Traits alternative to the wild type are called mutant phenotypes.• Morgan noted wild type. or normal. .

. but only males had white eyes. • Morgan’s finding supported the chromosome theory of inheritance. – The F2 generation showed the 3:1 red:white eye ratio.Correlating Behavior of a Gene’s Alleles with Behavior of a Chromosome Pair • In one experiment. • Morgan determined that the white-eyed mutant allele must be located on the X chromosome. Morgan mated male flies with white eyes (mutant) with female flies with red eyes (wild type): – The F1 generation all had red eyes.

CONCLUSION P Generation X X w w X Y w w Eggs F1 Generation Sperm w w w w w Eggs F2 Generation w Sperm w w w w w w w .4 All offspring had red eyes.EXPERIMENT P Generation F1 Generation RESULTS F2 Generation Figure 15.

X Y .Sex-linked genes exhibit unique patterns of inheritance • In humans and some other animals. there is a chromosomal basis of sex determination.

The Chromosomal Basis of Sex • In humans and other mammals. • Only the ends of the Y chromosome have regions that are homologous with corresponding regions of the X chromosome. . there are two varieties of sex chromosomes: a larger X chromosome and a smaller Y chromosome. • The SRY gene on the Y chromosome codes for a protein that directs the development of male anatomical features.

while a sperm may contain either an X or a Y chromosome. and males are XY. • Each ovum contains an X chromosome. .• Females are XX. • Other animals have different methods of sex determination.

6 44  XY Parents 44  XX 22  22  X or Y 22  X Sperm 44  XX Egg or 44  XY (a) The X-Y systemZygotes (offspring) 22  XX 22  X (b) The X-0 system 76  ZW 76  ZZ (c) The Z-W system 32 (Diploid) 16 (Haploid) (d) The haplo-diploid system .Figure 15.

• Genes on the Y chromosome are called Ylinked genes. whereas the Y chromosome mainly encodes genes related to sex determination. • Genes on the X chromosome are called Xlinked genes.Inheritance of X-Linked Genes • A gene that is located on either sex chromosome is called a sex-linked gene. • X chromosomes have genes for many characters unrelated to sex. there are few of these. .

– A male needs only one copy of the allele (hemizygous). • For a recessive X-linked trait to be expressed: – A female needs two copies of the allele (homozygous).• X-linked genes follow specific patterns of inheritance. X-linked recessive disorders are much more common in males than in females. • Therefore. .

XNXN XnY XNXn XNY XNXn XnY Sperm Xn Eggs XN XN (a) Y Sperm XN Eggs XN Xn (b) Y Sperm Xn Eggs XN Xn (c) Y XNXn XNY XNXn XNY XNXN XNY XNXn XNY XNXn XnY XnXn XnY .

• Some disorders caused by recessive alleles on the X chromosome in humans: – Color blindness (mostly X-linked) – Duchenne muscular dystrophy – Hemophilia .

• The inactive X condenses into a Barr body. .X Inactivation in Female Mammals • In mammalian females. she will be a mosaic for that character. one of the two X chromosomes in each cell is randomly inactivated during embryonic development. • If a female is heterozygous for a particular gene located on the X chromosome.

8 X chromosomes Early embryo: Allele for orange fur Allele for black fur Two cell populations in adult cat: Active X Cell division and X chromosome inactivation Inactive X Black fur Orange fur Active X .Figure 15.

. • This is because they are located near each other on the same chromosome. • Genes located on the same chromosome that tend to be inherited together are called linked genes.Linked Genes • Each chromosome has hundreds or thousands of genes (except the Y chromosome).

How Linkage Affects Inheritance • Morgan did other experiments with fruit flies to see how linkage affects inheritance of two characters. • Morgan crossed flies that differed in traits of body color and wing size. .

vestigial wings) b b vg vg .EXPERIMENT P Generation (homozygous) Wild type (gray body. normal wings) b b vg vg Figure 15.9-1 Double mutant (black body.

EXPERIMENT P Generation (homozygous) Wild type (gray body. vestigial wings) b b vg vg TESTCROSS Double mutant b b vg vg .9-2 Double mutant (black body. normal wings) b b vg vg F1 dihybrid (wild type) b b vg vg Figure 15.

normal wings) b b vg vg F1 dihybrid (wild type) b b vg vg Testcross offspring Figure 15.9-4 Double mutant (black body.EXPERIMENT P Generation (homozygous) Wild type (gray body. vestigial wings) b b vg vg TESTCROSS Double mutant b b vg vg Eggs b vg b vg b vg Grayvestigial b vg Wild type Black(gray-normal) vestigial b vg Blacknormal Sperm PREDICTED RATIOS b b vg vg 1 1 : : : b b vg vg 1 1 944 : : : b b vg vg 1 0 206 b b vg vg If genes are located on different chromosomes: If genes are located on the same chromosome and parental alleles are always inherited together: : : : 1 0 185 RESULTS 965 .

. and reasoned that they were on the same chromosome. • He noted that these genes do not assort independently.• Morgan found that body color and wing size are usually inherited together in specific combinations (parental phenotypes). • Understanding this result involves exploring genetic recombination. And thus also relate to the chromosomal basis of recombination. the production of offspring with combinations of traits differing from either parent. • However. nonparental phenotypes were also produced.

• That mechanism was the crossing over of homologous chromosomes. because some recombinant phenotypes were observed. • He proposed that some process must occasionally break the physical connection between genes on the same chromosome. but the linkage was incomplete.Recombination of Linked Genes: Crossing Over • Morgan discovered that genes can be linked. .

300 total offspring . vestigial wings (double mutant) b vg b vg Replication of chromosomes b vg Replication of chromosomes b vg b vg b vg b vg b vg b vg b vg Meiosis I b vg b vg b vg Meiosis I and II b vg Meiosis II b vg Recombinant chromosomes bvg b vg b vg b vg Eggs Testcross offspring 965 Wild type (gray-normal) b vg b vg 944 Blackvestigial 206 Grayvestigial b vg b vg 185 Blacknormal b vg b vg b vg b vg b vg Sperm Parental-type offspring Recombination frequency  Recombinant offspring 391 recombinants  100  17% 2.Testcross parents Gray body. normal wings (F1 dihybrid) b vg Black body.

constructed a genetic map. an ordered list of the genetic loci along a particular chromosome. one of Morgan’s students.Mapping the Distance Between Genes Using Recombination Data • Alfred Sturtevant. . • Sturtevant predicted that the farther apart two genes are. the higher the probability that a crossover will occur between them and therefore the higher the recombination frequency.

one map unit. represents a 1% recombination frequency. not precise locations of genes.Linkage maps • A linkage map is a genetic map of a chromosome based on recombination frequencies. or centimorgan. • Map units indicate relative distance and order. • Distances between genes can be expressed as map units. .

5% b cn vg .RESULTS Recombination frequencies 9% Chromosome 17% 9.

but genetically unlinked. and behave as if found on different chromosomes.• Genes that are far apart on the same chromosome can have a recombination frequency near 50%. . • Such genes are physically linked.

geneticists can develop cytogenetic maps of chromosomes. • Cytogenetic maps indicate the positions of genes with respect to chromosomal features.• Sturtevant used recombination frequencies to make linkage maps of fruit fly genes. • Using methods like chromosomal banding. .

0 104.5 67.Mutant phenotypes Short aristae Black body Cinnabar Vestigial eyes wings Brown eyes 0 48.5 57.5 Long aristae (appendages on head) Gray body Red eyes Normal wings Red eyes Wild-type phenotypes .

• Plants tolerate such genetic changes better than animals do. .Changes in chromosome number or structure cause some genetic disorders • Large-scale chromosomal alterations in humans and other mammals often lead to spontaneous abortions (miscarriages) or cause a variety of developmental disorders.

one gamete receives two of the same type of chromosome. • As a result. . pairs of homologous chromosomes do not separate normally during meiosis. and another gamete receives no copy.Abnormal Chromosome Number • In nondisjunction.

Meiosis I Nondisjunction .

Meiosis I Nondisjunction Meiosis II Nondisjunction .

Meiosis I

Nondisjunction Meiosis II

Nondisjunction Gametes

n  1 n  1 n  1 n  1
(a) Nondisjunction of homologous chromosomes in meiosis I

n  1 n  1



Number of chromosomes (b) Nondisjunction of sister chromatids in meiosis II

• Aneuploidy results from the fertilization of gametes in which nondisjunction occurred. • Offspring with this condition have an abnormal number of a particular chromosome. • A monosomic zygote has only one copy of a particular chromosome. • A trisomic zygote has three copies of a particular chromosome.

• Polyploidy is a condition in which an organism has more than two complete sets of chromosomes:
– Triploidy (3n) is three sets of chromosomes – Tetraploidy (4n) is four sets of chromosomes

• Polyploidy is common in plants, but not animals. • Polyploids are more normal in appearance than aneuploids.

Alterations of Chromosome Structure • Breakage of a chromosome can lead to four types of changes in chromosome structure: – Deletion removes a chromosomal segment – Duplication repeats a segment – Inversion reverses orientation of a segment within a chromosome – Translocation moves a segment from one chromosome to another .

A B C E F G H (b) Duplication A B C D E F G H A duplication repeats a segment. A B C B C D E F G H (c) Inversion A B C D E F G H An inversion reverses a segment within a chromosome. A D C B E F G H (d) Translocation A B C D E F G H M N O P Q R A translocation moves a segment from one chromosome to a nonhomologous chromosome.(a) Deletion A B C D E F G H A deletion removes a chromosomal segment. M N O C D E F G H A B P Q R .

Human Disorders Due to Chromosomal Alterations • Alterations of chromosome number and structure are associated with some serious disorders. characteristic of the type of aneuploidy. or syndrome. . • Some types of aneuploidy appear to upset the genetic balance less than others. • These surviving individuals have a set of symptoms. resulting in individuals surviving to birth and beyond.

• It affects about one out of every 700 children born in the United States. a correlation that has not been explained. . • The frequency of Down syndrome increases with the age of the mother.Down Syndrome (Trisomy 21) • Down syndrome is an aneuploid condition that results from three copies of chromosome 21.

it is the only known viable monosomy in humans. producing XXY individuals. • Klinefelter syndrome is the result of an extra chromosome in a male. called Turner syndrome. produces X0 females.Aneuploidy of Sex Chromosomes • Nondisjunction of sex chromosomes produces a variety of aneuploid conditions. who are sterile. • Monosomy X. .

the sex of the parent contributing an allele is a factor in the pattern of inheritance. and the other exception involves genes located outside the nucleus.There are additional exceptions to standard Mendelian inheritance • One exception involves genes located in the nucleus. . • In both cases.

• Genomic imprinting involves the silencing of certain genes that are “stamped” with an imprint during gamete production. • Such variation in phenotype is called genomic imprinting. the phenotype depends on which parent passed along the alleles for those traits. .Genomic Imprinting • For a few mammalian traits.

Mutant Igf2 allele is not expressed. Normal-sized mouse (wild type) Mutant Igf2 allele inherited from mother Mutant Igf2 allele inherited from father Normal-sized mouse (wild type) Normal Igf2 allele is expressed. Normal Igf2 allele is not expressed. Normal Igf2 allele is not expressed. (b) Heterozygotes . Dwarf mouse (mutant) Mutant Igf2 allele is expressed.Paternal chromosome Maternal chromosome (a) Homozygote Normal Igf2 allele is expressed.

.• It appears that imprinting is the result of the methylation (addition of —CH3) of cysteine nucleotides. • Genomic imprinting is thought to affect only a small fraction of mammalian genes. • Most imprinted genes are critical for embryonic development.

• The first evidence of extranuclear genes came from studies on the inheritance of yellow or white patches on leaves of an otherwise green plant. and other plant plastids carry small circular DNA molecules. • Extranuclear genes are inherited maternally because the zygote’s cytoplasm comes from the egg.Inheritance of Organelle Genes • Extranuclear genes (or cytoplasmic genes) are found in organelles in the cytoplasm. • Mitochondria. chloroplasts. .

• Some defects in mitochondrial genes prevent cells from making enough ATP and result in diseases that affect the muscular and nervous systems: – For example. mitochondrial myopathy and Leber’s hereditary optic neuropathy .

What is adaptation? . 22 and answer: .What exactly is natural selection? . • Read Chap. see the problems at the end of the chapter (or use the text study guide or access the online “Mastering Biology” with new texts).How are the sources of genetic variation and principles of inheritance we already discussed essential to the process of evolution? .For next lecture • If you want more practice problems for genetic crosses.