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1 Is it genetic?

Is it genetic?fire.biol.wwu.edu/trent/trent/13.01.09lecture.pdf · Wed Feb 15: QUIZ 3 (25 pts. take-home quiz distributed) Epigenetics, gene function and phenotype Cancer genetics

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Page 1: Is it genetic?fire.biol.wwu.edu/trent/trent/13.01.09lecture.pdf · Wed Feb 15: QUIZ 3 (25 pts. take-home quiz distributed) Epigenetics, gene function and phenotype Cancer genetics

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Is it genetic?

Page 2: Is it genetic?fire.biol.wwu.edu/trent/trent/13.01.09lecture.pdf · Wed Feb 15: QUIZ 3 (25 pts. take-home quiz distributed) Epigenetics, gene function and phenotype Cancer genetics

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BIOLOGY 321 GENETICS MWF 2:30-3:50 pm in BI212 Dr. Carol Trent [email protected] Office Hours: MWF 10:30-11:30am If you need to see CT outside of office hours, please contact me via email to set up a specific appointment time.

Page 3: Is it genetic?fire.biol.wwu.edu/trent/trent/13.01.09lecture.pdf · Wed Feb 15: QUIZ 3 (25 pts. take-home quiz distributed) Epigenetics, gene function and phenotype Cancer genetics

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REQUIRED TEXT

The 10th edition of Introduction to Genetic Analysis

by Anthony Griffiths et al.

The 9th edition is OK BUT class discussions of text

assignments and problems will use the numbering in the 10th edition

Page 4: Is it genetic?fire.biol.wwu.edu/trent/trent/13.01.09lecture.pdf · Wed Feb 15: QUIZ 3 (25 pts. take-home quiz distributed) Epigenetics, gene function and phenotype Cancer genetics

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This class meets three days a week for 80 minutes. • We will not have a formal break during

the 80 minute session – so much genetics so little time……

• Typically, 45-60 minutes a week will be set aside for an informal discussion of the lecture material and the problem sets.

• These informal sessions may consist of one longer or two shorter sessions.

Page 5: Is it genetic?fire.biol.wwu.edu/trent/trent/13.01.09lecture.pdf · Wed Feb 15: QUIZ 3 (25 pts. take-home quiz distributed) Epigenetics, gene function and phenotype Cancer genetics

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COURSE WEB SITE http://fire.biol.wwu.edu/trent/trent/Biol321index.html

LECTURE DATE COURSE TOPICS The lecture schedule may change without prior notice

Week 1 Jan 9 & 11

Introduction to Biol 321 Mendel & Model organisms; Probability

Week 2 Jan 14, 16 & 18

Mendel & Meiosis Morgan & Sex-linkage; Intro to pedigrees Fri Jan 18: QUIZ 1 (25 pts.)

Week 3 Jan 23 & 25 MLK Holiday: Jan 21

Independent Study on Pedigree analysis: come to class on 1/23 prepared to analyze pedigrees – see details in Assignment Set 2 Pedigrees and more probability Start complications to Mendelian analysis

Week 4 Jan 28, 30 & Feb 1

Polymorphisms Wed Jan 25: QUIZ 2 (45 pts. ) Additive Gene action & start gene interactions

Week 5 Feb 4, 6 & 8

Complementation and genetic heterogeneity Epistasis and Suppression Molecular genetics: the fidelity of DNA replication

Week 6 Feb 11, 13, 15

The molecular basis of mutation Wed Feb 8: Midterm Exam (90 pts.) Review of gene structure & effects of mutation on gene function

Week 7 Feb 20 & 22 Presidents Holiday: Feb 18

Independent Study on effects of mutation at the protein level: come to class on 2/20 prepared to discuss terms listed in Assignment Set 6 Effects of mutation on gene function Wed Feb 15: QUIZ 3 (25 pts. take-home quiz distributed) Epigenetics, gene function and phenotype Cancer genetics

Week 8 Feb 25, 27 & March 1

PCR & Direct detection of mutation Wed Feb 22: QUIZ 3 due Human Genome structure & DNA fingerprinting

Week 9 March 4, 6 & 8

Genetic linkage and recombination The generation of a genetic map & Positional cloning Fri March 2: QUIZ 4 (25 pts.)

Week 10 March 11, 13 & 15

Multifactorial inheritance and Complex traits Genome-wide Association Studies

Finals Week Final Exam 90 pts on Wed March 20 3:30-5:30pm

Page 6: Is it genetic?fire.biol.wwu.edu/trent/trent/13.01.09lecture.pdf · Wed Feb 15: QUIZ 3 (25 pts. take-home quiz distributed) Epigenetics, gene function and phenotype Cancer genetics

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EVALUATION Mid term and Final Exams: 2 @ 90 pt…….....180 Quizzes: 3 x 25 pts, 1 X 45 pts……………….120 Google.doc questions on required extra reading: …………................. 35 Total Points: 335 Ú Grading Correction = 5 pts (see explanation below) Ú Extra Credit Option = up to 6 pts (see explanation below) AUTOMATIC GRADING CORRECTION Ú At the end of the quarter, 5 points will be automatically added to your point total to correct for grading inaccuracies. You will forfeit all 5 points if you request any quiz or exam regrades during the quarter. Ú NOTE: Inquiries or concerns about arithmetic errors in point totals or obvious mis-marks will NOT result in forfeiture of the correction points.

Page 7: Is it genetic?fire.biol.wwu.edu/trent/trent/13.01.09lecture.pdf · Wed Feb 15: QUIZ 3 (25 pts. take-home quiz distributed) Epigenetics, gene function and phenotype Cancer genetics

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ª ª ª

No points are allocated specifically for class participation.

ª ª ª

BUT: if you have a borderline grade at the end of the quarter, and you attended lectures consistently, were an active class participant and your performance on quizzes and exams has steadily improved, I will “bump” you up to the higher grade.

Page 8: Is it genetic?fire.biol.wwu.edu/trent/trent/13.01.09lecture.pdf · Wed Feb 15: QUIZ 3 (25 pts. take-home quiz distributed) Epigenetics, gene function and phenotype Cancer genetics

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FORMAL EXTRA CREDIT OPTION

https://docs.google.com/spreadsheet/viewform?fromEmail=true&formkey=dFJyQ2FEem4yQ0g3bDFuWWFOWXR1amc6MA

• You have an opportunity each week to submit via an electronic form a synopsis of a major-media, legitimate science article concerning genetics. This genetics research discovery/story must have been published in the past 6 months in a scientific journal (such as Science or Nature) or a major newspaper.

• Each submission is worth two points. You can submit ONE and only ONE story in a given week – up to 3 submissions in three different weeks. A “week” is defined by Sunday 12:01AM through Saturday 12:00PM. [Total possible points = 6.]

• All submissions must be via the electronic form you will find at the link on the 321 web site. You must write the synopsis of the research discovery/story yourself; if you cut and paste text from the original source this will result in a loss of ALL extra credit. Plagiarism is astonishingly easy to check.

• You will receive a verification of your submission in the form of a dialog box once you click on submit

• Unless otherwise notified (within 1 week of submission), this verification indicates that 2 extra credit points will be added to your total grade.

Page 9: Is it genetic?fire.biol.wwu.edu/trent/trent/13.01.09lecture.pdf · Wed Feb 15: QUIZ 3 (25 pts. take-home quiz distributed) Epigenetics, gene function and phenotype Cancer genetics

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Goals of this course

(i) To develop your analytical skills via problem solving and data analysis (ii) To introduce you to the science underlying modern genetics (yes, you must learn some facts and terminology.)

(iii) To help you become sophisticated and critical consumers of scientific information in general and genetic information in specific.

Page 10: Is it genetic?fire.biol.wwu.edu/trent/trent/13.01.09lecture.pdf · Wed Feb 15: QUIZ 3 (25 pts. take-home quiz distributed) Epigenetics, gene function and phenotype Cancer genetics

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Goal: To develop your analytical skills via problem solving and data analysis

Over the course of the quarter you will receive several reading and problem assignments

Page 11: Is it genetic?fire.biol.wwu.edu/trent/trent/13.01.09lecture.pdf · Wed Feb 15: QUIZ 3 (25 pts. take-home quiz distributed) Epigenetics, gene function and phenotype Cancer genetics

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READING ASSIGNMENTS AND PROBLEM SETS • Each week or so a reading and problem set

assignment will be posted on the course web site • The problem assignments will be a combination of

textbook problems and problems from old quizzes and exams.

• After reviewing the lecture materials and reading through the assigned reading in the text, work through the assigned problems.

• NOTE: these are study problems to prepare you for quizzes and exams. You are not to hand in the answers.

• The answers to the problems will be available on the course web site, BUT, it is critical that you work through the problems yourself before checking the posted answers.

• We will review some of the assigned problems in the informal discussion sessions.

• These informal sessions will be most useful if come prepared to tell me what you are having problems with

• So, ideally, before you come to the discussion, you have will have reviewed the lecture material and worked (or at least tried to work) most of the assigned problems -- so you know where the trouble spots are.

Page 12: Is it genetic?fire.biol.wwu.edu/trent/trent/13.01.09lecture.pdf · Wed Feb 15: QUIZ 3 (25 pts. take-home quiz distributed) Epigenetics, gene function and phenotype Cancer genetics

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Assignment Set 1

http://fire.biol.wwu.edu/trent/trent/321AssignmentIndex.html

Also available online: Quizzes and midterm exams

from previous quarters http://fire.biol.wwu.edu/trent/trent/321S10QuizIndex.html

Page 13: Is it genetic?fire.biol.wwu.edu/trent/trent/13.01.09lecture.pdf · Wed Feb 15: QUIZ 3 (25 pts. take-home quiz distributed) Epigenetics, gene function and phenotype Cancer genetics

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Goal: To help you become sophisticated and critical consumers of scientific information in general and genetic information in specific. http://fire.biol.wwu.edu/trent/trent/MAOA.mp3

http://www.npr.org/blogs/health/2012/12/21/167785647/killers-dna-wont-explain-his-crime

Page 14: Is it genetic?fire.biol.wwu.edu/trent/trent/13.01.09lecture.pdf · Wed Feb 15: QUIZ 3 (25 pts. take-home quiz distributed) Epigenetics, gene function and phenotype Cancer genetics

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Required Readings Assignments outside of the text Zebrafish researchers hook gene for human skin color Science 310: 1754 Dec. 16, 2005

Human rainbow. A newly discovered gene partly explains the light skin of Europeans, but not East Asians, as compared to Africans. [Lighter pigmented skin is thought to have evolved independently in Europeans and Asians.]

Model organism and an animal from your aquarium: the zebrafish Brachydanio rerio

Page 15: Is it genetic?fire.biol.wwu.edu/trent/trent/13.01.09lecture.pdf · Wed Feb 15: QUIZ 3 (25 pts. take-home quiz distributed) Epigenetics, gene function and phenotype Cancer genetics

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Zebrafish researchers hook gene for human skin color Science 310: 1754 Dec. 16, 2005 http://fire.biol.wwu.edu/trent/trent/zebrafishskincolor.pdf This article reflects important themes that we will explore in this course: • The value of studying model organisms • The molecular basis of allelic variation and how it

affects phenotype • In complex traits, allelic variation in more than one

gene underlies phenotypic variation • Allele frequencies vary with the population under

consideration • The genetic control of many traits is not yet fully

understood • The complicated & confusing business of gene names

Page 16: Is it genetic?fire.biol.wwu.edu/trent/trent/13.01.09lecture.pdf · Wed Feb 15: QUIZ 3 (25 pts. take-home quiz distributed) Epigenetics, gene function and phenotype Cancer genetics

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Genes are often named for the phenotype produced by a mutation in the gene:

• the golden mutation in zebrafish defined the golden gene

• the equivalent gene in humans, though, was named for the protein it specifies: SLC24A5 = solute carrier family 24, member 5.

Upper panel: zebrafish carrying a wildtype allele of the golden gene Lower panel: zebrafish carrying a loss-of-function allele of the golden gene

Page 17: Is it genetic?fire.biol.wwu.edu/trent/trent/13.01.09lecture.pdf · Wed Feb 15: QUIZ 3 (25 pts. take-home quiz distributed) Epigenetics, gene function and phenotype Cancer genetics

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After you read an assigned paper, you must fill out a google.doc form no later than the deadline posted on the web site. The google.doc forms will be worth a total of 35 points and the deadlines will be distributed throughout the quarter. Here is an example of a google.doc form for an assignment from Spring 2012 https://docs.google.com/spreadsheet/viewform?formkey=dDMwV3B3a0gzbDFyUmx6WHJmQzZ1S1E6MA#gid=0