1 YORK UNIVERSITY Department of Biology Faculty of Science and Engineering Course outline Human...
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1 YORK UNIVERSITY Department of Biology Faculty of Science and Engineering Course outline Human Molecular Genetics (SC/BIOL 4285 3.0) W2015 Prerequisite: SC/BIOL 3130
1 YORK UNIVERSITY Department of Biology Faculty of Science and Engineering Course outline Human Molecular Genetics (SC/BIOL 4285 3.0) W2015 Prerequisite:
1 YORK UNIVERSITY Department of Biology Faculty of Science and
Engineering Course outline Human Molecular Genetics (SC/BIOL 4285
3.0) W2015 Prerequisite: SC/BIOL 3130
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2 Instructor: Dr. Michael Scheid Rm. 236 Farqharson Building
Website: scheid.blog.yorku.ca E-mail: [email protected] Office
hours: Tuesday/Thursday 10:15-11:00 am
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3 STUDENT EVALUATION: There will be ONE Midterm exam, worth 30%
of your grade: Midterm February 13 You will submit a RESEARCH
PAPER, worth 20% of your grade: Paper due March 27 The FINAL EXAM
will be worth 50% of your grade.
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4 Please note : There will be NO MAKE-UP of the midterm exams.
For medical issues please have your physician fill out the
Attending Physician Statement. This form is available from the
Registrars website.
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5 Academic Integrity: Senate Policy on Academic Dishonesty
Students are expected to be familiar with and follow York
Universitys Policies regarding academic integrity. Please consult
the website below for more details:
http://www.yorku.ca/academicintegrity/students.htm
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6 ACADEMIC MISCONDUCT WILL NOT BE TOLERATED. Cheating is the
attempt to gain an improper advantage in an academic evaluation.
Forms of cheating include: Obtaining a copy of an examination
before it is officially available or learning an examination
question before it is officially available; Copying another persons
answer to an examination question; Consulting an unauthorized
source during an examination; Obtaining assistance by means of
documentary, electronic or other aids which are not approved by the
instructor; Changing a score or a record of an examination result;
Submitting the work one has done for one class or project to a
second class, or as a second project, without the prior informed
consent of the relevant instructors; Submitting work prepared in
collaboration with another or other member(s) of a class, when
collaborative work on a project has not been authorized by the
instructor; Submitting work prepared in whole or in part by another
person and representing that work as ones own; Offering for sale
essays or other assignments, in whole or in part, with the
expectation that these works will be submitted by a student for
appraisal; Preparing work in whole or in part, with the expectation
that this work will be submitted by a student for appraisal.
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Overview of Gene Expression Mechanisms to control gene
expression Spatial/temporal consideration
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Overview of Gene Expression RNA Polymerase II Transcription
factors and cis-acting regulatory sequences
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Overview of Gene Expression Ligand-inducible transcription
factors examples
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Overview of Gene Expression Epigenetic regulation
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Paula Quintero-Ronderos and GladisMontoya-Ortiz Autoimmune
Diseases Volume 2012, Article ID 593720, 16 pages
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DNA Methylation Host defense vs. Gene regulation Parent of
origin: imprinting Biallelic vs monoallelic expression
Inappropriate DNA methylation can cause problems eg. Cancer
Beckwith-Wiedemann syndrome
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DNA Methylation Determine the biological role of methylation
Disrupt genes involved DNMT (DNA methyltransferase)
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Li E, et al. Cell, 1992, 69:915-26. Homolgous knockout of DNA
methyltransferase in mice leads to embryonic lethality.
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DNA Methylation Determine the biological role of methylation
Disrupt genes involved methyl-binding- domain proteins (eg
MeCP2)
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Tate, P., Skarnes, W. & Bird, A. Nature Genet. 12, 205-208
(1996). The methyl-CpG binding protein MeCP2 is essential for
embryonic development in the mouse.
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Rett Syndrome Occurrence: 1 in 10,000 Neuron, November 2007,
Pages 422-437
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Rett Syndrome In humans, MeCP2 is mutated in 1 in 10,000
females Causes severe neurological disorders Rett Syndrome
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80% of females with Rett syndrome have mutations in MeCP2
Example of a strong single-gene disorder Result of inappropriate
loss of gene silencing
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Inappropriate Silencing of Genes Fragile-X Syndrome
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LengthMethylationFemalesMales Stable6 to ~45UnmethylatedNot
affected Gray zone~45 to ~55UnmethylatedNot affected Premutation~55
to ~200Unmethylated Usually not affected Full mutation>200
Completely methylated ~50% affected All affected
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Skewed X-Chromosome inactivation in a family with Fragile
X
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Southern Blot Analysis A normal female will show an
unmethylated 2.8-kb band and a 5.2-kb methylated band that
correspond to the normal FMR1 gene present in the active and
inactive X chromosome, respectively. Blood sample Digest genomic
DNA with EcoRI and EagI Electrophoresis and transfer to membrane
Hybridize with FMR1 specific probe