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Cell division importance
Growth, repair, and reproduction (asexual = clones, sexual = gametes fuse to form zygote)
Four events of cell division
Signal to divide; DNA replication; DNA segregation; Cytokinesis
Binary fission
Process in prokaryotes where one cell divides into two identical cells
Steps of binary fission
Signal → DNA replication → DNA segregation → Cytokinesis
Chromatin
DNA + histone proteins in a loose, accessible form (interphase)
Histones
Positively charged proteins (lysine-rich) that DNA wraps around
DNA structure
Double helix with antiparallel strands held by hydrogen bonds
DNA bases
Adenine, Thymine, Cytosine, Guanine (A, T, C, G)
DNA length in humans
~3.2 billion base pairs; ~2 meters long if stretched
Nucleosome
DNA wrapped around histones ("beads on a string")
Chromosome
Highly condensed chromatin (not accessible for transcription)
DNA packaging levels
DNA → nucleosome → chromatin fiber → loop domains → condensed chromosome
Epigenetics
Regulation of gene expression without changing DNA sequence
HATs (Histone Acetyltransferases)
Open chromatin → increase gene expression
HDACs (Histone Deacetylases)
Close chromatin → decrease gene expression
Cell cycle
G1 → S → G2 → M (mitosis)
G1 phase
Cell growth and normal function
S phase
DNA replication
G2 phase
Preparation for mitosis
M phase
Mitosis + cytokinesis
G0 phase
Non-dividing state (cells exit cycle)
Diploid (2n)
Two copies of each chromosome
Haploid (n)
One copy of each chromosome (gametes)
Human chromosome number
46 chromosomes (23 pairs)
Autosomes
22 non-sex chromosomes
Sex chromosomes
X and Y chromosomes
Centromere
Region where sister chromatids are joined
Kinetochore
Protein structure on centromere where spindle fibers attach
Centrosome
Microtubule organizing center (spindle poles)
Spindle fibers
Microtubules that move chromosomes during division
Mitosis
Division of nucleus producing two identical diploid cells
Purpose of mitosis
Growth, repair, and maintenance
Prophase (mitosis)
Chromosomes condense; spindle forms
Prometaphase
Nuclear envelope breaks; microtubules attach to kinetochores
Metaphase
Chromosomes align at the cell equator
Anaphase
Sister chromatids separate and move to opposite poles
Telophase
Nuclei reform; chromosomes decondense
Cytokinesis
Division of cytoplasm into two cells
Cohesin
Protein that holds sister chromatids together
Cyclin
Regulatory protein that fluctuates during the cell cycle
CDK (Cyclin-dependent kinase)
Enzyme always present; activated by cyclin to drive cell cycle
Cyclin-CDK complex
Active complex that phosphorylates proteins to progress cell cycle
Cell cycle checkpoints
G1 (DNA damage), S (replication issues), G2 (DNA complete), M (spindle attachment)
Meiosis
Cell division that produces four haploid, genetically different cells
Purpose of meiosis
Produce gametes and increase genetic variation
Meiosis I
Separation of homologous chromosomes (reduction division)
Meiosis II
Separation of sister chromatids (similar to mitosis)
Synapsis
Pairing of homologous chromosomes in prophase I
Tetrad
Four chromatids (paired homologous chromosomes)
Crossing over
Exchange of DNA between homologous chromosomes (prophase I)
Chiasma
Site where crossing over occurs
Independent assortment
Random alignment of homologous chromosomes (metaphase I)
Segregation
Separation of chromosomes into different gametes
Genetic variation sources
Crossing over, independent assortment, and random fertilization
Number of possible gametes
2^23 combinations (~8.4 million)
Spermatogenesis
Production of 4 equal haploid sperm cells
Oogenesis
Production of 1 egg + 3 polar bodies (unequal division)
Polar bodies
Nonfunctional cells produced during oogenesis
Nondisjunction
Failure of chromosomes to separate properly
Nondisjunction result
Aneuploidy (abnormal chromosome number)
Aneuploidy
Too many or too few chromosomes
Causes of nondisjunction
Cohesin failure or kinetochore attachment issues
Geriatric pregnancy
Pregnancy at age 35+ with higher risk of nondisjunction
Trisomy 21
Three copies of chromosome 21 (Down syndrome)
Down syndrome effects
Developmental delay, epicanthal folds, short stature, heart defects
Down syndrome frequency
~1 in 700 births; higher with maternal age
Translocation
Chromosome segment attaches to a different chromosome
Reciprocal translocation
Exchange of segments between two chromosomes
Philadelphia chromosome
Translocation between chromosomes 9 and 22
BCR-ABL
Fusion gene formed from translocation → causes cancer
Insertion mutation
Addition of extra DNA segment
Deletion mutation
Loss of DNA segment
Karyotype
Visual display of chromosomes arranged by size
FISH (Fluorescence in situ hybridization)
Technique to visualize chromosomes using fluorescent probes
Chromosome arms
p arm (short arm) and q arm (long arm)
Prophase I importance
Only phase where crossing over occurs
Difference: mitosis vs meiosis
Mitosis = identical cells; Meiosis = genetic variation + haploid cells
Somatic cells
Body cells (diploid)
Germ line cells
Cells that produce gametes (haploid)
Zygote
Diploid cell formed from fertilization
Fertilization
Fusion of two haploid gametes to form diploid zygote
Differentiation
Process where cells become specialized despite same DNA
Why different cells exist
Different gene expression (epigenetics)
Condensed chromosomes
Not accessible for transcription
Interphase chromatin
Accessible for transcription and replication