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Side 62

Genetics

A study of biological information across generations. Genetics connects DNA sequence, gene expression, variation, inheritance and recombination to phenotype and population change.

DNA→gene→variation→inheritance→phenotype
06genetic lenses
04inheritance patterns
05variation mechanisms
62Side

Genes are encoded in DNA sequence.

Sequence provides a durable information substrate, but function depends on regulation, context and interaction.

01 · Nucleotide

The basic DNA unit.

A, T, C, G.

Sequence order carries genetic information.

02 · Gene

A functional genomic region.

Product + regulation.

Genes include more than protein-coding sequence alone.

03 · Chromosome

DNA packaged at larger scale.

Genome organization.

Genes occupy physical positions and can be inherited together when linked.

04 · Allele

A sequence variant at a locus.

Alternative version.

Alleles can differ in function, regulation or have little measurable effect.

05 · Genotype

The inherited variant combination.

At one or many loci.

Genotype contributes to phenotype through development and environment.

Genetic information must be expressed to affect cell behavior.

Regulation determines when, where and how strongly genes contribute to cellular function.

Transcription

DNA → RNA.

RNA polymerase copies selected DNA regions into RNA.

RNA processing

Modify the transcript.

Splicing and other processing steps can change the final RNA product.

Translation

RNA → protein.

Ribosomes decode messenger RNA into amino-acid sequence.

Regulation

Control expression level.

Promoters, enhancers and regulatory proteins shape transcription.

Epigenetic state

Chromatin affects accessibility.

DNA and histone modifications can alter gene expression without changing sequence.

Context

Same genome, different cells.

Cell types differ because they express different subsets of genes.

Inheritance patterns emerge from chromosome behavior and gene interaction.

Mendelian ratios are powerful starting models, not descriptions of every trait.

PatternCore ideaTypical clueCaution
Dominant / recessiveHeterozygote resembles one homozygoteCharacteristic pedigree ratiosDominance describes phenotype, not allele “strength”
Incomplete dominanceHeterozygote intermediateThree distinguishable genotypesDepends on trait measurement
CodominanceBoth alleles visibly contributeBoth products detectableNot the same as blending
Sex-linkedLocus on sex chromosomeTransmission differs by sex chromosomesPatterns depend on species system
PolygenicMany loci contributeContinuous variationEnvironment often contributes strongly too

Variation is generated, shuffled and filtered.

Mutation creates new sequence variants; recombination and segregation rearrange existing variation.

Point mutation

Single-base change.

Can be neutral, regulatory, synonymous or alter protein sequence.

Insertion / deletion

Add or remove sequence.

Effects depend on size and genomic location.

Copy-number change

Duplicate or delete larger regions.

Gene dosage can alter phenotype.

Rearrangement

Move or invert chromosomal segments.

Can disrupt genes or change regulatory context.

New mutation

Variant absent from parents.

Novel germline variants enter pedigrees and populations.

Standing variation

Existing diversity in a population.

Selection often acts on variants already present.

Meiosis reshuffles inherited information.

Segregation and crossing over create gametes with new combinations of parental alleles.

Pairing

Homologous chromosomes align.

Maternal and paternal homologs pair during meiosis.

Crossing over

Exchange between homologs.

Recombination breaks up inherited haplotypes.

Segregation

Alleles separate into gametes.

Each gamete receives one member of each homologous pair.

Independent assortment

Different chromosome pairs segregate independently.

Genes close together on one chromosome can violate simple independence.

Linkage

Nearby loci tend to travel together.

Recombination frequency can reveal relative genetic distance.

Population genetics tracks allele frequencies through time.

Mutation, selection, drift, migration and mating structure alter genetic composition.

Mutation

Introduces new variants into the population.

Selection

Changes allele frequencies through differential reproductive success.

Drift

Random sampling changes frequencies, especially in small populations.

Gene flow

Migration moves alleles among populations.

Assortative mating

Nonrandom mating changes genotype frequencies and can reshape trait distributions.

Introduction to Genetic AnalysisGriffiths et al. · genetics foundation
Genetics: Analysis and PrinciplesBrooker · inheritance and molecular genetics
Principles of Population GeneticsHartl & Clark · population change
Molecular Biology of the CellAlberts et al. · gene expression context