Genetics DSA Flashcards
What is Lyonization AKA? What is the definition of Lyonization?
Lyonization= X-inactivation
Females that have 2 X chromosomes, so one is inactivated
What is the definition of Mosaicism? Why does this occur?
Two or more populations of cells with different genotypes in an individual who has developed from a single fertilized egg.
This results from errors in cell division.
Ex. Turner Syndrome 45 XO
Klinefelter Syndrome 47 XXY
Down Syndrome: 47 XX +21
What is Thalassemia? What does Thalassemia lead to?
Mutation in Hemoglobin that leads to the underproduction of hemoglobin
What kind of mutation leads to MERRF?
Mutation in the tRNA gene for Lysine
What kind of mutation leads to MELAS?
Mutation in the tRNA gene for Leucine
The nucleus is the principle site for the synthesis of what 2 products?
DNA and RNA
The ER is the principle site for the synthesis of what 2 macromolecules? What 2 other activities occur here?
Synthesis of proteins and lipids
Protein folding
Storage of calcium
The Golgi apparatus is the principle site of what?
PTMs on proteins and lipids
Trafficking of molecules
What are the 2 main functions of the mitochondria?
Make ATP
Signaling cell death
What is the difference between lysosomes and peroxisomes?
Lysosomes- degrade molecules using digestive enzymes
Peroxisomes- use enzymes in oxidative reactions
What is the function of RER?
Making proteins that are destined to be secreted
Does the RER contain ribosomes?
Yes
Note that the smooth ER does not contain ribosomes because it is the where lipids are formed
What do clathrin coated vesicles transport products from and to?
From the Golgi apparatus and to the lysosomes
From the Exterior of the cell to the lysosomes
What does COP I coated vesicles transport products between?
Between stacks of the golgi apparatus (cis -> trans)
What does COP II coated vesicles transport products between?
From the ER to the Cis Golgi