Natural selection shapes populations over time, favoring traits that enhance survival and reproduction. This process relies on genetic variation, inheritance, and differential survival. Understanding how genes and environment interact is crucial for grasping human evolution and diversity.
Genetics explains how traits are passed down through generations. The interplay between genotype (genetic makeup) and phenotype (observable traits) is complex, influenced by factors like dominant and recessive alleles, gene-environment interactions, and epigenetics. This knowledge helps predict inheritance patterns and disease risks.
Principles of Genetics and Evolution
Principles of natural selection
- Natural selection process where organisms with advantageous traits survive and reproduce at higher rates than those without these traits
- Advantageous traits increase an organism's chances of survival and reproduction in a given environment (camouflage, resistance to disease)
- Over time, frequency of advantageous traits increases in a population leading to evolutionary change (darker moth coloration in polluted areas)
- Key principles of natural selection:
- Variation: Individuals within a population differ in their traits (height, color, behavior)
- Inheritance: Some traits are heritable and can be passed from parents to offspring (eye color, blood type)
- Differential survival and reproduction: Individuals with advantageous traits have higher chances of survival and reproduction (larger beak size in finches during drought)
- Natural selection played a significant role in human evolution shaping traits such as:
- Bipedalism: Walking upright on two legs freed hands for tool use and improved efficiency in long-distance travel
- Brain size: Increased brain size and complexity enabled advanced cognitive abilities and problem-solving skills
- Digestive adaptations: Changes in digestive enzymes and gut morphology accommodated a more diverse diet (ability to digest lactose in adulthood)
Genotype vs phenotype in genetics
- Genotype refers to an individual's genetic makeup, specific alleles (versions of genes) inherited from their parents
- Alleles can be dominant (expressed when present in one copy) or recessive (expressed only when present in two copies)
- Phenotype is the observable characteristics or traits of an individual resulting from the interaction between their genotype and the environment (eye color, hair color, height, blood type)
- Significance of genotype and phenotype in human genetics:
- Understanding the relationship between genotype and phenotype helps predict the likelihood of inheriting certain traits or genetic disorders
- Some genetic disorders are caused by recessive alleles only expressed in the phenotype when an individual inherits two copies of the allele (one from each parent)
- Cystic fibrosis caused by a recessive allele; individuals with two copies develop the disorder, while those with one copy are carriers
- Dominant genetic disorders are expressed in the phenotype when an individual inherits one copy of the allele
- Huntington's disease caused by a dominant allele; individuals with one copy will develop the disorder
Gene-environment interactions for traits
- Gene-environment interactions occur when the effects of genes on a trait depend on environmental factors or when environmental influences on a trait vary based on an individual's genotype
- Physical traits influenced by gene-environment interactions:
- Height: Determined by multiple genes and influenced by environmental factors such as nutrition and healthcare
- Obesity: Genetic predisposition can interact with environmental factors like diet and physical activity to influence body weight
- Psychological traits influenced by gene-environment interactions:
- Intelligence: Influenced by both genetic factors and environmental stimuli such as education and socioeconomic status
- Personality: Shaped by the interplay between genetic predispositions and environmental experiences such as parenting style and life events
- Epigenetics studies how environmental factors can alter gene expression without changing the underlying DNA sequence
- Exposure to stress or trauma can lead to epigenetic changes that influence mental health outcomes such as an increased risk of depression or anxiety disorders
- Understanding gene-environment interactions is crucial for developing targeted interventions and personalized approaches to physical and mental health
Fundamentals of Genetics
- Chromosomes are structures in the cell nucleus that carry genetic information
- Humans have 23 pairs of chromosomes, including 22 pairs of autosomes and one pair of sex chromosomes
- DNA (Deoxyribonucleic acid) is the molecule that contains the genetic instructions for the development and functioning of all known living organisms
- DNA is organized into genes, which are specific sequences that code for particular proteins
- Genes are the basic units of heredity, determining traits that are passed from parents to offspring
- Inheritance is the process by which genetic information is transmitted from parents to offspring
- Gregor Mendel, known as the "father of genetics," discovered the fundamental principles of inheritance through his experiments with pea plants
- The genome is an organism's complete set of genetic material, including all of its genes and DNA sequences
Heredity and Genetic Variation
Principles of natural selection
- Mutations introduce new genetic variation into a population
- Mutations are changes in the DNA sequence that can alter the function or expression of genes
- Some mutations are neutral, while others can be advantageous (resistance to antibiotics) or deleterious (genetic disorders) depending on the environment
- Sexual reproduction and recombination increase genetic variation
- During meiosis, genetic material from both parents is shuffled and combined to create unique combinations of alleles in offspring
- This process generates new combinations of traits that can be subject to natural selection (increased diversity in offspring)
- Genetic drift: Random changes in allele frequencies that occur by chance, particularly in small populations
- Bottleneck effect: A significant reduction in population size that leads to a loss of genetic variation (cheetah population bottleneck)
- Founder effect: When a small group of individuals establishes a new population, leading to reduced genetic diversity compared to the original population (Amish population in Pennsylvania)
- Gene flow: The transfer of alleles between populations through migration and interbreeding
- Gene flow can introduce new genetic variation into a population or homogenize allele frequencies between populations (interbreeding between Neanderthals and modern humans)
Genotype vs phenotype in genetics
- Polygenic traits are influenced by multiple genes, each contributing a small effect to the overall phenotype
- Examples of polygenic traits in humans include height, skin color, and susceptibility to complex diseases like diabetes or schizophrenia
- Pleiotropy occurs when a single gene influences multiple seemingly unrelated phenotypic traits
- The gene responsible for sickle cell anemia also provides protection against malaria
- Incomplete penetrance: When individuals with the same genotype do not always express the associated phenotype
- BRCA1 and BRCA2 gene mutations increase the risk of breast and ovarian cancer, but not all individuals with these mutations develop cancer
- Variable expressivity: When individuals with the same genotype exhibit varying degrees of the associated phenotype
- Marfan syndrome, caused by a dominant allele, can have varying severity of symptoms among affected individuals (some may have mild joint hypermobility while others develop life-threatening cardiovascular complications)
Gene-environment interactions for traits
- Norm of reaction: The range of phenotypes that a single genotype can produce across different environments
- Plants with the same genotype may grow to different heights depending on the availability of nutrients and water
- Genotype-by-environment (GxE) interactions can influence the heritability of traits
- Heritability is the proportion of variation in a trait that can be attributed to genetic differences among individuals in a population
- The heritability of a trait can vary depending on the environmental context
- The heritability of IQ is higher in high socioeconomic environments than in low socioeconomic environments
- Developmental plasticity: The ability of an organism to alter its phenotype in response to environmental cues during development
- Childhood malnutrition can lead to stunted growth and impaired cognitive development, even in individuals with the same genotype as well-nourished individuals
- Genetic predispositions can influence an individual's response to environmental factors
- Individuals with a genetic predisposition to addiction may be more likely to develop substance abuse disorders when exposed to certain environmental triggers (stress, peer pressure)