New User Special Price Expires in

Let's log you in.

Sign in with Facebook


Don't have a StudySoup account? Create one here!


Create a StudySoup account

Be part of our community, it's free to join!

Sign up with Facebook


Create your account
By creating an account you agree to StudySoup's terms and conditions and privacy policy

Already have a StudySoup account? Login here


by: Floy Quitzon III

Genetics BIOL 3250

Floy Quitzon III
GPA 3.63

Mohamed Salem

Almost Ready


These notes were just uploaded, and will be ready to view shortly.

Purchase these notes here, or revisit this page.

Either way, we'll remind you when they're ready :)

Preview These Notes for FREE

Get a free preview of these Notes, just enter your email below.

Unlock Preview
Unlock Preview

Preview these materials now for free

Why put in your email? Get access to more of this material and other relevant free materials for your school

View Preview

About this Document

Mohamed Salem
Class Notes
25 ?




Popular in Course

Popular in Biology

This 54 page Class Notes was uploaded by Floy Quitzon III on Wednesday September 23, 2015. The Class Notes belongs to BIOL 3250 at Middle Tennessee State University taught by Mohamed Salem in Fall. Since its upload, it has received 27 views. For similar materials see /class/213226/biol-3250-middle-tennessee-state-university in Biology at Middle Tennessee State University.


Reviews for Genetics


Report this Material


What is Karma?


Karma is the currency of StudySoup.

You can buy or earn more Karma at anytime and redeem it for class notes, study guides, flashcards, and more!

Date Created: 09/23/15
Genetics The Big Picture INTRODUCTION What better way to start Genetics than with an overview of the Human Genome Project Formally launched in 1990 Aimed to decode our GENOMEall of the DNA found within all of our chromosomes Coordinated by the National Institutes of Health NIH and the Department of Energy DOE Carried out by scientists from around the world INTRODUCTION The completed sequence of the human genome was published in 2003 Nearly 3 billion nucleotides Accuracy greater than 9999 The study of the human genome provides fundamental molecular details about ourselves How many genes we have How cells develop into complex tissue How defective genes cause disease Figure 111 DNA the molecule of life Chromosomes Trillions of cells Each cell contains 46 human chromosomes quot found in 23 pairs 2 meters of DNA Approximately 3 billion DNA base pairs per set of chromosomes containing the bases A T G and C 0 Approximately 20000 to 25000 genes coding for proteins that perform 39 most life functions Amino acid Protein composed of amino acids The genetic composition of humans INTRODUCTION The knowledge gained from the Human Genome Project will lead to improvements in the diagnosis treatment and prevention of disease New technologies have made it possible to produce medicines that would othenIvise be very difficult to make An example is human recombinant insulin Chromosome 4 16 f1 Huntington disease WolfHirschhorn syndrome PKU due to dihydropteridine reductase deficiency MP8 1 Hurler and Scheie syndromes L Mucopolysaccharidosis l Periodontitis juvenile Dysalbuminemic hyperzincemia Dysalbuminemic hyperthyroxinemia Analbuminemia Hereditary persistence of alphafetoprotein AFP deficiency congenital 1 J Dentinogenesis imperfecta1 Piebaldism Polycystic kidney disease adult type II Mucolipidosis ll J a L Mucolipidosis III Iquot Severe combined immunodeficiency due C3b inactivator deficiency Aspartylglucosaminuria WilliamsBeuren syndrome type II Sclerotylosis Anterior segment mesenchymal dysgenesis L to L2 deficiency Rieger syndrome Dysfibrinogenemia gamma types Hypofibrinogenemia gamma types Pseudohypoaldosteronism Hepatocellular carcinoma 1 J Glutaric acidemia type C Factor XI deficiency Fletcher factor deficiency Dysfibrinogenemia alpha types Amyloidosis hereditary renal Dysfibrinogenemia beta types Facioscapulohumeral muscular dystrophy Genes on one human chromosome that are associated with disease when mutant The Human Gennme Pr nject Viaen 3D Animatinn lntmductinn by m 53 ry lms f f INTRODUCTION While trying to understand genes and their function scientists have developed many controversial genetic technologies DNA fingerprinting Not wellreceived at first Now a common tool of forensic science Mammalian cloning In 1997 Ian Wilmut and colleagues cloned the first mammal a sheep named Dolly Cows mice goats pigs and cats have now been cloned Fears that the technology may be applied to humans led to legislative bans on human cloning INTRODUCTION Genetic technologies allow the modification of animals in various ways For example mice can be made to glow green Ajellyfish gene encoding a green fluorescent protein is introduced into lab mice Upon exposure to ultraviolet light the mice emit a bright green color 11 THE RELATIONSHIP BETWEEN GENES AND TRAITS Genetics is the study of heredity and variation It is the interdisciplinarydiscipline in biology Genetics is centered on the study of genes The gene is classically defined as a unit of heredity The modern definition is a segment of DNA that produces a functional product such as a polypeptide Genes provide the blueprint that determines the traits of an organism Traits are the characteristics of an organism 10 Living Cells Are Composed of Biochemicals All cells are constructed from small organic molecules linked together by chemical bonds to form larger molecules Cells contain four main types of large molecules Nucleic acids Proteins Carbohydrates Lipids 11 Living Cells Are Composed of Biochemicals Nucleic acids proteins and carbohydrates are termed macromolecules They are polymers constructed from smaller molecules called monomers Plant cell Cellular structures form as a result of the interaction of molecules and macromolecules Beam 7 7 V eight n 1 12 Each Cell Contains Many Different Proteins That Determine Cellular Structure And Function The characteristics of a cell largely depend on the proteins it produces All of the proteins that a cell makes at a given time is called its proteome Proteins are the workhorses of cells They have diverse biological functions 13 Structural proteins Tubulin Aggregates to form microtubules Plays role in cell shape and movement Contractile proteins Myosin Plays role in muscle contraction Hormonal proteins Insulin Regulates the level ofglucose in the blood 14 u A particularly important group of proteins are the enzymes Enzymes are biological catalyststhey accelerate chemical reactions Catabolic enzymes Involved in the breakdown of large molecules into smaller ones Provide energy for the activities of the cell Anabolic enzymes Involved in the synthesis of large molecules from smaller ones Provide components for the construction of the cell 15 DNA Stores the Information for Protein Synthesis The genetic material in all living organisms is deoxyribonucleic acid DNA Some viruses use RNA as their genetic material DNA encodes the information required to synthesize all cellular proteins It is able to do so because of its molecular structure 16 DNA Stores the Information for Protein Synthesis DNA is a polymer of nucleotides Each nucleotide contains one nitrogenous base Adenine A Thymine T Cytosine C Guanine G The genetic information is stored in the linear sequence of these bases along the DNA molecule A 3 ltu 3 A D lt r H 39 Ci GCA AGA GAT AAT TGT 777 Arg Asn 39cvy 39 1 2 4 DNA Stores the Information for Protein Synthesis The Genetic Code directs the order of amino acidsthree base code for each I ATG GGC CTT AGC DNA Sequence I Met Gly Leu Ser Protein Sequence 18 The DNA in living cells is contained within large structures termed chromosomes Human cells have 46 chromosomes Each chromosome is a complex of DNA and proteins An average human chromosome contains More than a 100 million nucleotides About 1000 different genes 5 3 onm 3 t A g 3 413m 3 J 3 x the it hurt am yyie 39 qu uv Lu J u an The Information Within the DNA ls Accessed During the Process of Gene Expression Gene expression occurs in two steps Transcription The genetic information in DNA is copied into a nucleotide sequence of ribonucleic acid RNA Translation The nucleotide sequence in RNA provides the information using the genetic code to make the amino acid sequence of a protein 20 Transcription RNA messenger RNA Translation Protein sequence of amino acids Functioning of proteins within living cells influences an organism s traits 21 Simple Gene Expressiun The sequence If nueileuliide bases in DNA galTies genetic infurmi tin in white that are Galilee genes Cmpy igE II i i J39 The HEGT39nw Fl flii Cnrnpanizeem Una Audie TEEft t 22 The Molecular Expression of Genes Within Cells Leads to an Organism s Visible Traits A trait is any characteristic that an organism displays We usually focus on Morphological traits Affect the appearance of the organism Example The color ofa flower There are also Physiological traits Affect the function of the organism Example Ability to metabolize a sugar We can even identify Behavioral traits Affect the ways an organism responds to the environment Example Mating calls of bird species 23 Traits are controlled at least in part by genes The relationship between genes and traits spans four levels of biological organization 1 Genes are expressed at the molecular level 2 Proteins function at the cellular level 3 Traits are observed at the organism level 4 Genestraits within a particular species can also be studied at the population level 24 Dark butlerlly Light bunedly c Organism level a Molecular level ll h More f Wingcells l I W ll Dark butter ies are usually Light butlerllies are usually in lowsled regions in unloresled legions Lots of pigmem made Lillie pigment made 1 Population level b Cellular level 25 Inherited Differences in Traits Are Due to Genetic Variation Genetic variation refers to differences in inherited traits among individuals within a population For example white vs purple flowers In some cases genetic variation is very striking Members of the same species may be misidentified as belonging to different species p eg Broccoli amp cauliflower Contrasting forms within a single species are termed morphs 26 Genetic variation is a result of various types of changes to DNA at the molecular level 1 Gene mutations Differences in gene sequences Lead to two or more expression forms or alleles of the same gene 2 Changes in chromosome structure Large segments of a chromosome may be lost duplicated or reattached to another chromosome 3 Changes in chromosome number Single chromosomes may be lost or gained A whole extra set of chromosomes may be inherited 27 H11 IIJI r Inr u n 1 n Seedless watermelon are produca on tripioid plants Traits Are Governed by Genes and by the Environment Traits are a result of the interaction between genes and the environment For example an individual s diet has an effect on hisher height and weight and even intelligence In some cases the environment dictates whether a disease is manifested in an individual or not 29 Phenylketonuria PKU Humans have a gene encoding the enzyme phenylalanine hydroxylase Converts phenylalanine to tyrosine Humans with one or two functional copies of this gene can metabolize phenylalanine Humans with two copies of inactive allele cannot metabolize phenylalanine Phenylalanine will thus accumulate lt ultimately causes a number of detrimental effects Mental impairment for example 30 Phenylketonuria PKU Newborns are now routinely screened for PKU Occurs in 1 in 8000 births among Caucasians Individuals with the disease are put on a strict dietary regimen phenylalaninefree diet These individuals tend to develop normally 31 32 B39NiaEEH E5 Bruits EEirla39l Diylasi FigOl10 During Reproduction Genes Are Passed from Parent to Offspring Gregor Mendel in the mid19th century provided the foundation for the science of genetics The principles of inheritance he proposed can be explained by chromosomes and their behavior during cell division Eggamp Sperm I 615 a Hagrigid fr Fertilization Meiosis Diplnid 2an T I Mature IndIVIdual 33 During Reproduction Genes Are Passed from Parent to Offspring Sexuallyreproducing species are commonly diploid I W ml Have two copies of each chromosome iiiiiiii h One from each parent The two copies of a chromosome are termed homologs Homologs contain the same genes Not necessarily the same alleles 1 2 3 4 5 B 7 B 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 9 10 11 12 13 14 15 16 17 1B 19 El 21 22 XX 17 20 21 22 X 1B 19 b Chromosomal composition found In a chromosomal compoaltlon lound a human gamete 23 chromosomes In most female human can 46 chromosomes In humans most cells have 46 Gametes Chromosomes Sperm and egg cells 23 homologous pairs are haploid The X and Y chromosomes Have one set of 23 of human males are not chromosomes homologous 35 During Reproduction Genes Are Passed from Parent to Offspring mm ummumn m growth A iuumulu an p The union of sperm and egg during fertilization restores the diploid number mm mm can my mm stages mum Enmciapedia mm During Reproduction Genes Are Passed from Parent to Offspring Autosomal Dominant Al39fected Unaffecied Una ected Affemed Child Chlld Child Child During Reproduction Genes Are Passed from Parent to Offspring Sexual reproduction L enhances genetic variation It can result in combinations of traits not found in either parent Mk Normal Carrier Carrier Affected 38 The Genetic Composition of a Species Evolves Over the Course of Many Generations The genetic makeup of a population can change over many generations This is termed biological evolution Natural selection is the process in which individuals with greater reproductive success are more likely to pass their genes to future generations 39 Natural selection can be summarized as such Members of a species compete for essential resources In some individuals random mutations lead to beneficial alleles Individuals are better adapted to the environment These individuals are more likely to survive and reproduce Therefore the beneficial alleles are passed on to subsequent generations In addition populations can harbor neutral mutations unrelated to survival 40 The Genetic Composition of a Species Evolves Over the Course of Many Generations Thus genetic changes can accumulate These can slowly lead to remarkable modifications in the characteristics of a species Example The evolution of Equus cabalus The modern day horse 41 I D HD mamkomermm changes L Wm mmmr a Namnmmm 4 Larger snze Fewer toes Tm af rm Modified jaw For grazing egg E mam371m E E I E 5 rs bummam Prwas a mmm A Famm wmmS 12 FIELDS OF GENETICS Researchers often times study model organisms so they can compare their research results see Figure 113 Genetics is traditionally divided into three fields Transmission Genetics Molecular Genetics Population Genetics 43 Transmission Genetics Explores the Inheritance Patterns of Traits as They Are Passed from Parents to offspring Transmission genetics is the oldest field of gene cs It examines how traits are passed from one generation to the next The conceptual framework was provided by Gregor Mendel in the 1860s Genetic determinants pass from parent to offspring as discrete units These are now termed genes 44 Transmission Genetics Explores the Inheritance Patterns of Traits as They Are Passed from Parents to Offspring The basic experimental approach is the genetic cross Two selected individuals are mated The traits in question are analyzed over several generations Analysis is often quantitative an the nmgenv am last cum includes an mlnanl and mam mam a mm M m I n n at u re Transmission Genetics Explores the Inheritance Patterns of Traits as They Are Passed from Parents to Offspring Transmission genetics is covered in Chapters 28 Chapter 3 Chromosomes and their roles in inheritance Chapter 2 Mendelian patterns of inheritance Chapters 48 Complexities in transmission genetics Linkage NonMendelian patterns of inheritance 46 Molecular Genetics Focuses on a Biochemical Understanding of the Hereditary Material Molecular genetics is the most modern field of genetics It deals with how the molecular features of DNA underlie gene expression Gene organization and function Detailed analysis of DNA RNA and proteins 47 Molecular Genetics Seeks a Biochemical Understanding of the Hereditary Material Molecular geneticists typically employ the genetic approach to research They study mutant genes that have abnormal function Example Lossoffunction mutation which eliminates the function of a gene often revealing its role in creating a trait 48 Molecular genetics is covered in Chapters 923 Chapters 9 and 18 What are the molecular structures of DNA and RNA Chapters 10 and 20 Composition and conformation of chromosomes Chapter 11 Copying the genetic material Chapters 12131819 and 21 How are genes expressed at the molecular level Chapter 141518 and 23 Regulation of gene expression Chapters 16 and 17 Mutations and rearrangements of genetic material Chapter 22 Role of the genetic material in human diseases Chapter 23 Genes and Development 49 Population Genetics ls Concerned With Genetic Variation and Its Role in Evolution Population genetics deals with the genetic variation of populations and how that variation is related to the environment Population geneticists develop mathematical theories to explain the prevalence of certain alleles within populations 50 Population Genetics ls Concerned With Genetic Variation and Its Role in Evolution Population genetics is covered in Chapters 2426 Chapter 24 What factors alter the prevalence of alleles Chapter 25 How do genetics and environment influence traits Chapter 26 What factors impact the process of evolution 51 Genetics Is an Experimental Science Science allows us to understand our natural world Genetics allows us to understand how genes produce traits The scientific method underlies scientific research It is a standard process that provides a way to validate or invalidate hypotheses about the natural world 52 Genetics Is an Experimental Science Course does notjust focus on the product of science that is the observations scientists have made It emphasizes the process of science Each chapter presents one to two experiments This will enable you to see the experimental process from start to finish 53 Genetics Is an Experimental Science Finally remember that science is a social discipline It is fun to discuss ideas with other people You do not need to know all the answers before you enter into scientific a discussion Think of it as a continuous dialogue 54


Buy Material

Are you sure you want to buy this material for

25 Karma

Buy Material

BOOM! Enjoy Your Free Notes!

We've added these Notes to your profile, click here to view them now.


You're already Subscribed!

Looks like you've already subscribed to StudySoup, you won't need to purchase another subscription to get this material. To access this material simply click 'View Full Document'

Why people love StudySoup

Steve Martinelli UC Los Angeles

"There's no way I would have passed my Organic Chemistry class this semester without the notes and study guides I got from StudySoup."

Amaris Trozzo George Washington University

"I made $350 in just two days after posting my first study guide."

Bentley McCaw University of Florida

"I was shooting for a perfect 4.0 GPA this semester. Having StudySoup as a study aid was critical to helping me achieve my goal...and I nailed it!"


"Their 'Elite Notetakers' are making over $1,200/month in sales by creating high quality content that helps their classmates in a time of need."

Become an Elite Notetaker and start selling your notes online!

Refund Policy


All subscriptions to StudySoup are paid in full at the time of subscribing. To change your credit card information or to cancel your subscription, go to "Edit Settings". All credit card information will be available there. If you should decide to cancel your subscription, it will continue to be valid until the next payment period, as all payments for the current period were made in advance. For special circumstances, please email


StudySoup has more than 1 million course-specific study resources to help students study smarter. If you’re having trouble finding what you’re looking for, our customer support team can help you find what you need! Feel free to contact them here:

Recurring Subscriptions: If you have canceled your recurring subscription on the day of renewal and have not downloaded any documents, you may request a refund by submitting an email to

Satisfaction Guarantee: If you’re not satisfied with your subscription, you can contact us for further help. Contact must be made within 3 business days of your subscription purchase and your refund request will be subject for review.

Please Note: Refunds can never be provided more than 30 days after the initial purchase date regardless of your activity on the site.