Define the following terms:

‌Genome -
‌Promoter
‌Enhancer
‌Transposons - these are mobile genetic elements, (segments of genome that move around) implicated in
gene regulation and chromatin organization
‌Telomeres - Telomeres are short repeated sequences of DNA present at the ends of linear chromosomes
that are important for ensuring the complete replication of chromosome ends and for protecting the ends
from fusion and degradation.
‌Autophagy -
• Autophagy involves sequestration of cellular organelles into cytoplasmic autophagic vacuoles (au-
tophagosomes) that fuse with lysosomes and digest enclosed material.
• Autophagy is an adaptive response that is enhanced during nutrient deprivation, allowing the cell to can-
nibalize itself to survive.
• Autophagosome formation is regulated by more than a dozen proteins that act in a coordinated and se-
quential manner.
• Dysregulation of autophagy occurs in many disease states, including cancer, inflammatory bowel dis-
eases, and neurodegenerative disorders. Autophagy plays a role in host defense against certain microbes.
‌Necrosis- Necrosis: External cellular injury (toxin, ischemia, trauma) can damage mitochondria, inducing
the formation of mitochondrial permeability transition pores in the outer membrane. These channels allow
the dissipation of the proton gradient so that subsequent mitochondrial ATP generation becomes impossi-
ble and the cell dies.
‌Apoptosis - programmed cell death, Programmed cell death is a central feature of normal tissue develop-
ment and turnover and can be triggered by extrinsic signals (including cytotoxic T cells or inflammatory
cytokines) or intrinsic pathways (including DNA damage or intracellular stress). Mitochondria integrate
intracellular proapoptotic and antiapoptotic effector signals to generate a final “go” or “no go” signal for
apoptosis.
‌Autophagy
‌Stem cell niches
What are 2 important properties of stem cells?
- self-renewal (allows them to maintain their numbers)
- Asymmetric division (1 daughter cell enters differentiation pathway and the other remains undifferenti-
ated and retains its self-renewal capacity)

What are the 2 types of stem cells?

1. Embryonic (ES cells)
2. Tissue Stem Cells (adult stem cells)

What are characteristics of ES cells?

- most undifferentiated
- present in the inner cell mass of blastocyst
- limitless renewal capacity
- can give rise to every cell in the body=totipotent

What are characteristics of Tissue Stem Cells?

- found in association with differentiated cells of a given tissue
- protected within stem cell niches
- limited repertoire of differentiated cells they can generate

Where are stem cell niches located? Function?

brain (neural stem cells inhabit sub ventricular zone and dentate gyrus)
Skin (bulge region of hair follicle, sebaceous glands, lower layer of epidermis)
Cornea (at the limb)
GI (base of crypt above panethed cells)
Liver (oval cells located in canal of Hering, structures that connect bile ducts to parenchymal hepato-
cytes)
*keeps cells quiescent until needed

Enumerate the organelles involved in cellular housekeeping and explain their respective roles.
Cytosol: metabolism, transport, protein translation
Mitochondria: energy generation, apoptosis
RER: synthesis of membrane and secreted proteins
SER/golgi: protein modification, sorting, catabolism
Nucleus: cell regulation, proliferation, DNA transcription
Endosomes: intracellular transport and export, ingestion of extracellular substances
Lysosomes: cellular catabolism
Peroxisomes: very long chain fatty acid metabolism
Plasma Membrane: Protection and Nutrient Acquisition
Cytoskeleton The ability of cells to adopt a particular shape, maintain polarity, organize intracellular or-
ganelles, and migrate depends on an intracellular scaffold of structural proteins that form the cytoskeleton
Biosynthetic Machinery: Endoplasmic Reticulum and Golgi Apparatus All cellular constituents—includ-
ing structural proteins, enzymes, transcription factors, and even the phospholipid membranes—are con-
stantly renewed in an ongoing process balancing synthesis and degradation.
Waste Disposal: Lysosomes and Proteasomes

‌ xtracellular Matrix:
E
Ehlers-Danlos Syndrome: This genetic disorder affects the production of collagen, a major component of
the extracellular matrix, leading to skin hyperextensibility, joint hypermobility, and fragile blood vessels.
Alport Syndrome: This condition disrupts collagen in the basement membrane of the kidney glomerulus,
causing progressive kidney damage and hearing loss.

‌ rowth Factors:
G
Acromegaly: Excessive production of growth hormone can lead to abnormal growth of bones and tissues,
resulting in enlarged hands, feet, and facial features.
Neurofibromatosis Type 1: Mutations in the NF1 gene can cause an overproduction of growth factors,
leading to the development of tumors on nerves and skin.

‌ ignal Transduction Pathways:

S
Chronic Myeloid Leukemia: A genetic mutation leads to the activation of the BCR-ABL fusion protein,
whi

Signal Transduction Pathways:

Chronic Myeloid Leukemia: A genetic mutation leads to the activation of the BCR-ABL fusion protein,
which triggers abnormal signal transduction and uncontrolled growth of white blood cells.
Type 2 Diabetes: Insulin resistance disrupts normal signal transduction pathways, preventing cells from
responding properly to insulin and leading to elevated blood sugar levels.

‌ ell Cycle:
C
Cancer: Many types of cancer involve mutations that disrupt cell cycle regulation, leading to uncontrolled
cell division and tumor formation.
Progeria: A rare genetic disorder causes accelerated cell cycle progression, resulting in premature aging
and various health issues.
‌ ell Signaling:
C
Alzheimer's Disease: Abnormal cell signaling contributes to the accumulation of amyloid plaques and tau
tangles in the brain, leading to cognitive decline.
Cystic Fibrosis: Mutations in the CFTR gene affect cell signaling in the respiratory and digestive systems,
causing thick mucus production and impaired organ function.

cell cycle
Li-Fraumeni syndrome (diverse cancers)-Cell cycle arrest and apoptosis in response to DNA damage
Familial retinoblastoma syndrome (retinoblastoma, osteosarcoma, other sarcomas)- Inhibitor of G1/S
transition during cell cycle progression