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Human Biology
study of contemporary human biological variation
Anthropology
human knowledge - biological/physical: study of human/primate variation
Scientific Method
Observation, hypothesis forming, hypothesis testing, theory development
Hypothesis
testable prediction or educated guess about how things work
Null Hypothesis
a default baseline statement claiming there is no effect, no difference, or no relationship between variables
Primary Literature
peer reviewed, read and critiqued by other scientist in field
Secondary Literature
describes, analyzes and interprets primare literature
Genetics
how traits and biological information are passed down from parents to childre
Epigenetics
study of chemical modifications to DNA that are associated with changes in the way genes are expressed
Prokaryote
microscopic, single-celled organism that does not have a distinct nucleus or other membrane-bound parts inside its cell
Eukaryote
contain a distinct, membrane-bound nucleus, own DNA (ribosome, mitochondria)
Organelle
a tiny, specialized structure inside a cell that performs a specific job
Nucleus
Control Center of the Cell
Mitochondria
powerhouse of the cell
Ribosome
tiny cellular structure that builds protein from amino acids
Chromosome
thread-like structure made of tightly wound DNA and proteins that lives inside the nucleus of a cell and carries your genetic information
Somatic cell
All body cells
Direct cell activity
Diploid
Human somatic cells contain 46 chromosomes
Gamete
Reproductive cells
Males: sperm
Females: egg
Provides cytoplasm, including mitochondria
Transmit genetic information
Haploid
Human gametes contain 23 chromosomes
Diploid
two complete sets of chromosomes—one set from each biological parent.
Homologous pair
set of two matching chromosomes—one inherited from the mother and one from the father
DNA
instruction manual inside your cells that carries the genetic information used to build and run your entire body
Nucleotides
the basic building block and repeating unit (monomer) of nucleic acids like DNA and RNA
Adenine
building block of life that helps form DNA, RNA, and cellular energy.
Thymine
DNA building block
Guanine
DNA building block
Cytosine
DNA building block
Gene
sequence of DNA bases that specifies the order of amino acids in a protein
Transcription
process where a cell copies a gene's DNA sequence into a temporary RNA message called messenger RNA
Translation
the process of translating the sequence of a messenger RNA (mRNA) molecule to a sequence of amino acids during protein synthesis.
RNA
single-stranded molecule in cells that acts as a messenger, carrying instructions from DNA to build proteins
mRNA
genetic molecule that carries instructions from your DNA to the part of the cell that builds proteins
tRNA
small molecule that acts as an adapter or delivery truck, carrying specific amino acids to the ribosome to build proteins
uracil vs thymine
uracil is used in RNA while thymine is used in DNA
Protein
a large, essential molecule made of smaller building blocks called amino acids
Process of DNA replication
Denaturation
Annealing
Extension
Mitosis
46 chromosomes (single) → Replication (46 double strands)→ Cell division (2 daughter cells, each containing 46 single stranded chromosomes)
Meiosis
46 chromosomes (single) → Replication (46 double strands split into 23) → First cell division (reduction) (2 daughter cells, each have 23 double stranded chromosomes) → second cell division (4 daughter cells each containing 23 single stranded chromosome)
Mutation
Generates brand new genetic variation
Most are found in DNA regions that don’t have a function (non-coding regions)
Random Assortment
random way chromosome pairs line up and separate during cell division, giving each new sex cell a unique mix of traits from both parents
Recombination
the process where pieces of DNA are broken and mixed to create new combinations of genes
Sexual vs asexual reporduction
Sexual reproduction involves two parents combining sex cells to create unique offspring, while asexual reproduction involves a single parent producing genetically identical clon
Sex
Observable physical characteristics that distinguish
two kinds of human beings, females and males,
need for reproduction”
Gender
refers to the social, cultural, and
psychological constructions that are imposed on the
biological differences of sex”
Allele
version of a gene (T) for tall and (t) for short
Complex vs Simple Trait
Simple traits (a.k.a Mendelian traits)
Traits whose variations are controlled by different versions of a single gene
• Complex traits
Traits that are influenced by more than one gene or environmental factor
Genotype
combo of 2 versions of a gene allele that a person inherited
Dominance
a trait expressed in the presence of a different allele
Recessive
a trait not expressed in the presence of a dominant trait
Homozygous
having the same allele at the same locus on both chromosomes (TT, tt)
Heterozygous
having different alleles at same locus (Tt)
Punnett Square
simple grid tool used in biology to predict the probability that offspring would inherit specific genes and traits from parents.
ABO Blood Groups
3 alleles: A, B, O
Genotype |Antigen on RBC | ABO blood type (phenotype)
AA, |AO | A A
BB, | BO |B B
AB |A and B |AB
OO |None | O
Codominance
a genetic inheritance pattern where both versions of a gene (alleles) are fully and equally expressed in an individual
Human Genome Project
Main Goal: Decode the roughly 3 billion chemical base pairs that make up human genetic instructions.
Result: Successfully created a master "blueprint" of human DNA, making it freely available to scientists worldwide.
Medicine: Helps researchers find genes linked to diseases, leading to better tests and targeted treatments.
Biology: Shows that 99.9% of the DNA sequence is identical in all people, helping us understand human evolution.
Pedigree Chart
Diagram of mating and offspring in family over a span of generations
Autosome
any chromosome that is not a sex one
Sex chromosome
special pair of chromosomes that help determine the biological sex of an individual
Gonads
the primary reproductive organs that make sex cells (eggs or sperm) and sex hormones
Sex steroid
steroid hormone that controls sexual development, reproduction, and secondary sex characteristics
DSD (Differences of Sexual Development)
What determines biological sex?
A person’s sex chromosomes?
The multiple genes that control the development of the gonads?
Genes that control sex steroid receptors?
DNA Methlation
Epigenetic marks- Modification at transcription level – methyl group attached to DNA molecule (typically at guanine and cytosine) and ends up suppressing or enhancing chemical components of DNA
Histone modification
Epigenetic mark: Modification at DNA structural level - Any addition one of those chemical groups to a histone which impacts the ease with which DNA unwinds – Sensitive to environmetal condtions
microRNA
Epigenetic mark- Modification at transcription level – tiny strands of RNA binds to section of DNA and make it difficult to use DNA as a template
Intergenerational epigenetic effects
happens when a parent’s life experiences—like stress, diet, or toxic exposures—change how their genes work without altering the actual DNA sequence, and pass those chemical tags directly to their children
Levels of regulation of gene expression
epigenetic, transcriptional, post-transcriptional, translational, and post-translational levels
Epigenetic marks
Features that are not directly governed by the genetic code that are found on a DNA molecule and regulate gene expression
– Sensitive to environmental conditions
Hox genes
encode homeodomain protein product which are transcription factors
Plasticity
occurs when individuals respond to their environment by changing their form or physiology
Developmental plasticity
occurs when individuals respond to their environment by changing their form or physiology- can result in permanent changes in adult phenotype
Taxon
is the science of naming, defining, and classifying groups of biological organisms based on shared characteristics (Charles Darwin)
Lamarck
an organism can pass on physical traits it acquired or developed during its lifetime to its offspring (Charles Darwin)
Competition for resource
The struggle between organisms for limited life-essential necessities—such as food, water, light, and territory—which drives natural selection because only the best-adapted survive. (Charles Darwin)
Binomial nomenclature
universal two-part naming system used in biology to give every species a unique scientific name
Descent from common ancestor
The biological principle that all living organisms on Earth share a single ancestral origin and diverged into different species over time through evolution. (Charles Darwin)
Extinction
The permanent disappearance of a species from Earth, occurring when the last living member of that species dies (Charles Darwin)
Species
as fixed, unchanging categories to dynamic, interbreeding populations that change over time (Charles Darwin)
Adaptation
physical or behavioral trait that helps a living thing survive and reproduce in its environment
Darwin
a British scientist who created the theory of evolution by natural selection
Natural Selection
1. There is biological variation in all species
2. # offspring > resources
3. Competition
4. Greater fitness = survive + reproduce
5. Environment determines what is beneficial
6. Traits are inherited and passed on
7. Variations accumulate in a population
8. Geographical isolation contributes to new species
Evolution
Change in the gene frequencies of a population over time
Modern Synthesis
Change in allele frequencies over time
Directional selection
natural selection where an extreme physical trait or phenotype is favored over all others, causing the population's traits to shift in that single direction over time.
Genetic drift
An example of neutral evolution
Founder effect
Reduces genetic variation
Founder effect
the loss of genetic diversity that happens when a small group of individuals breaks away from a larger population to establish a new, isolated colony
Gene flow
An example of neutral evolution
Increases genetic variation in the population
Selectionist hypothesis
a foundational concept in immunology stating that the body pre-designs a massive variety of immune cells, and when a foreign invader enters, it "selects" the specific cell that matches it to multiply and fight the infection.
Neutral theory
most genetic changes at the DNA and protein level do not affect an organism's survival or reproduction,
Vertebrates
an animal that has a backbone or spinal column
Homologies
Similarities between organisms based on descent from a common ancestor
Analogies
Similarities between organisms based on common function – no assumed common evolutionary descent
Ancestral
belonging to, inherited from, or relating to family members who lived long ago. ex: five fingers
Derived
evolutionary group within the human lineage (hominins) that evolved new, unique traits that were not present in their ancestors Ex: having a chin, walking upright
Clade
a group of organisms that includes a single common ancestor and all of its descendants
Cladogram
branching diagram that represents the evolutionary relationships and common ancestry between groups of organisms
Intraspecific vs. interspecific variation
Intraspecific variation: differences between individuals of the same species
interspecific variation: differences between different species.
Mammalian characteristics
warm-blooded backboned animals that have hair or fur and feed their young with milk
Primate characteristics
defined by large brains, grasping hands with flat nails, and forward-facing eyes (ex: lemurs, monkeys, humans
Phylogenetic tree
diagram that shows how different living things are related through evolution
Biological species concept
group of organisms that can mate and produce healthy, fertile offspring with each other in nature (Charles Darwin)