Final Review Flashcards
What determines if you are male or female?
Presence of SRY gene
If male doesn’t have sry gene then they develop as
Female
What is the difference between post transcriptional modifications and post translational modifications
Post Transcriptional - g cap, poly A tail, splicing
Post Translational - phosphorylation, methylation, acetylation, proteolysis, glycosylation
How do we initiate transcription
Attach to Promoter
What is special about the promoter, what is found within it
Transcription factors bind to TATA box, CpG islands
Difference between DNA methylation and histone
DNA methylation - decrease transcription
Histone Methylation - increases transcription
polymorphism
DNA variation that is really common
Penetrance vs Variable Expressivity
Penetrance - Proportion of individuals with a certain genotype that shows the expected phenotype
Variable Expressivity - Variable degree to which the genotype can be expressed in an individual
X-
XXY-
XXX-
XYY-
X- turner syndrome
XXY- kinefelter syndrome
XXX- normal
XYY- normal
Role of SRY gene in sex determination
Embryo develops testies, no SRY develops ovaries
What are the 3 main types of inheritance of mitochondria and chloroplast DNA
Maternal organelles in offspring derived from the mother
Paternal from father
Biparental from either the mother or the father
What is the difference between DZ and MZ twins
DZ - fraternal
MZ - identical
How to do concordance rate?
36 MZ twins both with, 40 MZ twins half with, 336 MZ twins neither
36(36+40)=47%
Hybrid Vigor
cross between two different true breeding homozygotes result in stronger phenotype
Epigenetics
changes in expression in a gene of set of genes without a change in DNA sequence, changes are HERITABLE and stable, but are REVERSIBLE
What are epigenetics’ two main processes
DNA methylation, chromosomal protein alteration
Cytosine residues in DNA can be modified by the _____ addition of a _______ group
covalent, methylation
Clusters of CpG sites in the genome are called?
CpG islands, they are often found in promoters that are unmethylated
Effects of DNA methylation
attracts proteins that are involved in the repression of transcription
important for development
cause cancer mutations
What is chromatin remodeling
changes in chromatin structure