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502 week 1
Transcription Overview
Initiation
RNA Polymerase Binds Promoter
Elongation
DNA Opens by Helicase
RNA Polymerase Reads 3' to 5'
Nucleotides Added to 3' End
Termination
Stem Loop Formation
Rho Protein Factor
3 mins
Nucleus
Characteristics
Transcription Factors
Nucleolus Transcribes rRNA
DNA
RNA
Nuclear Membrane is a Bilayer
Membrane is Continuous with Endoplasmic Reticulum
Nucleus Surrounded by Cytosol
Nuclear Pores
2 mins
DNA Replication
Characteristics
DNA Gyrase Uncoils Supercoil
Helicase Separated DNA Strand
Single-Strand Binding (SSB) Protein Keeps Strands Separated
DNA Polymerase Synthesizes New Strand
3' To 5' Reading
Primase Creates RNA Primer
Telomerase Caps DNA Ends
DNA Ligase Combines Okazaki Fragments
Okazaki Fragments On Lagging Strand
4 mins
Angelman's Syndrome
Mechanism
Paternal Imprinting
Deletion of Chromosome 15q (Maternal Deletion)
Signs And Symptoms
Happy Puppet Syndrome
Inappropriate Laughter
Ataxia
Severe Intellectual Disability (Mental Retardation)
Seizure
Abnormal EEG
2 mins
Prader-Willi Syndrome
Mechanism
Maternal Imprinting
Deletion of Chromosome 15q (Paternal Deletion)
Signs And Symptoms
Hyperphagia
Truncal Obesity
Hypogonadism
Undescended Testicles (Cryptorchidism)
Intellectual Disability (Mental Retardation)
Neonatal Hypotonia (Floppy Baby)
Almond Shaped Eyes
Narrow Bifrontal Diameter
Thin Upper Lip
3 mins
Translation: Initiation
Translation: Initiation
Ribosome Binds mRNA
Complex Reads 5' to 3'
AUG Start Codon
Initiation Complex Forms
GTP and Initiation Factor Bring Complex Together
Met-tRNA Binds P Site
tRNA With Bound Amino Acids Binds A Site
Amino Acid Chain Created in Elongation
3 mins
Translation: Elongation & Termination
Translation: Elongation
Amino Acid Chain Is Created
New Amino Acid-tRNA Enters A Site
GTP and Elongation Factors Help tRNA Enter A Site
Peptide Chain Binds to New Amino Acid
Peptide Chain-tRNA Moves to P Site
Free tRNA in P Site Moves to E Site
Translation: Termination
Stop Codon at A Site Causes Termination
Release Factors Help Complex Disassociate
Complex Falls Apart
3 mins
Neomycin Sulfate
Mechanism
Aminoglycoside Antibiotic
Indications
Topical Infection
Intestinal Surgery Prophylaxis
Side Effects
Ototoxicity
Nephrotoxicity
Rash
Blood Dyscrasias
Considerations
GI Superinfection
2 mins
Marfan Syndrome
Mechanism
Fibrillin-1 Mutation
Symptoms
Autosomal Dominant
Tall
Arachnodactyly
Pectus Excavatum
Hypermobile Joints
Aortic Aneurysm And Dissection
Mitral Valve Prolapse (MVP)
Subluxation of Lens (Superior)
2 mins
Gauchers Disease
Pathophysiology
Autosomal Recessive
Beta Glucocerebrosidase Deficiency
Diagnosis
Lipid-laden Macrophages
Crumpled Tissue Paper
Signs and Symptoms
Osteoporosis
Bone Crises
Aseptic Necrosis of Femur
Erlenmeyer Flask Deformity
Hepatosplenomegaly
Pancytopenia
2 mins
Tay-Sachs Disease
Pathophysiology
Autosomal Recessive
Hexosaminidase A Deficiency
Increased GM2 Ganglioside
More Common in Ashkenazi Jewish Population
Signs and Symptoms
Cherry Red Spot on Macula
Neurodegeneration
Developmental Delay
Diagnosis
Onion Skin Lysosomes
1 min
Niemann-Pick Disease
Pathophysiology
Autosomal Recessive
Sphingomyelinase Deficiency
More Common in Ashkenazi Jewish Population
Signs and Symptoms
Cherry Red Spot on Macula
Hepatosplenomegaly
Neurodegeneration
Diagnosis
Foam Cells
1 min
Fabry's Disease
Pathophysiology
X-linked Recessive
Alpha-galactosidase A Deficiency
Increased Ceramide trihexoside
Early Signs and Symptoms
Decreased Sweating (Hypohidrosis)
Angiokeratoma
Episodic Peripheral Neuropathy
Late Signs and Symptoms
Cardiovascular Disease
Renal Failure
1 min
Eukaryotic Transcription Regulation
DNA Silencer Region
Transcription Factors bind Silencer Region
Decreased Transcription
Co-factors can deactivate factors
Co-factors can activate factors
DNA Enhancer Region
Transcription Factors bind Enhancer Region
Increased Transcription
Enhancer and Silencer regions can be far from Promoter
2 mins
Eukaryotic Post Transcriptional Modification
Modifications in Nucleus
mRNA Splicing
Introns Cut Out
Exons spliced together
Alternate Splicing
5' Cap added
3' Poly A tail added
Transported to Cytosol
2 mins
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