Biology Summary Slides

This summary covers the essential concepts of molecular biology that you'll need for your A-level exams. We'll explore how DNA stores information, replicates itself, and controls protein production in cells.

The topics range from basic DNA structure to advanced genomic sequencing techniques. Each section builds on the previous one, so mastering the fundamentals will make the more complex processes much easier to understand.

Key Tip: Focus on understanding the processes rather than memorising every detail - the connections between concepts are what matter most in exams.

The Structure of DNA

DNA nucleotides are the building blocks of life, each containing three components: a phosphate group, deoxyribose sugar, and a nitrogen base. Think of them like LEGO blocks that snap together in specific ways.

The famous double helix structure forms when two DNA strands twist together, held by hydrogen bonds between complementary base pairs: Adenine pairs with Thymine, and Cytosine pairs with Guanine. The sugar-phosphate backbone provides structural strength through covalent bonds.

DNA direction matters enormously - new nucleotides can only be added to the 3' end, creating a 5' to 3' direction for replication. This directional rule affects everything from DNA copying to protein synthesis.

Prokaryotes keep their DNA in a single circular chromosome plus smaller plasmids, whilst eukaryotes have linear chromosomes wrapped around histone proteins in the nucleus. Interestingly, yeast breaks the usual eukaryotic pattern by also having plasmids.

Remember: The antiparallel structure means the two DNA strands run in opposite directions - this is crucial for understanding replication!

Replication of DNA

Before any cell divides, it must copy its entire DNA using DNA polymerase - but this enzyme can't start from scratch. Primers (short DNA sequences) must first bind to the template strand to give polymerase something to build on.

DNA replication creates two identical copies from one original molecule. The double helix unwinds, breaking hydrogen bonds to expose the template strands. DNA polymerase then adds complementary nucleotides, but here's the catch - it only works in one direction.

This directional limitation creates the leading strand (copied continuously) and the lagging strand (copied in fragments). Ligase enzyme then joins these fragments together like molecular glue.

PCR (Polymerase Chain Reaction) is the lab technique that amplifies tiny DNA samples into millions of copies. It uses repeated heating and cooling cycles: 92-98°C to separate strands, 50-65°C for primer binding, and 70-80°C for replication. PCR helps solve crimes, establish paternity, and diagnose genetic disorders.

Essential: Remember the requirements - template DNA, free nucleotides, primers, DNA polymerase, ligase, and ATP for energy!

Gene Expression - Part 1

Gene expression is how your DNA instructions become actual proteins that do the work in your cells. Only a fraction of your genes are active at any time - imagine having all 20,000+ genes switched on simultaneously!

Three types of RNA make protein synthesis possible. mRNA (messenger RNA) carries the genetic code from nucleus to ribosome, with each codon (triplet of bases) specifying one amino acid. tRNA (transfer RNA) delivers specific amino acids to the ribosome using its anticodon. rRNA (ribosomal RNA) forms the ribosome structure itself.

Transcription happens in the nucleus when RNA polymerase unwinds DNA and builds a primary transcript. This isn't the final product though - RNA splicing removes introns $non-coding regions$ and joins exons (coding regions) to create mature mRNA.

Translation occurs at ribosomes in the cytoplasm. The process starts with a start codon, tRNA molecules bring amino acids in the correct order, peptide bonds link amino acids together, and a stop codon ends the process.

Key Distinction: Transcription = DNA to RNA in the nucleus; Translation = RNA to protein at ribosomes!

Gene Expression - Part 2

Translation is remarkably precise - anticodons on tRNA molecules pair with codons on mRNA through complementary base pairing. Each tRNA delivers its specific amino acid and then leaves, allowing the polypeptide chain to grow.

Alternative RNA splicing is evolution's clever trick for making multiple proteins from one gene. Different combinations of exons can be retained during splicing, producing various mature mRNA transcripts from the same primary transcript.

Proteins aren't just linear chains - they fold into complex three-dimensional shapes held together by hydrogen bonds and other interactions. This shape determines function, which is why protein structure is so crucial.

Your phenotype (observable characteristics) results from the proteins produced through gene expression. However, environmental factors also influence your traits - genes provide the blueprint, but the environment affects how it's expressed.

Remember: One gene can make multiple proteins through alternative splicing - this explains how humans have so much complexity with relatively few genes!

Cellular Differentiation

Cellular differentiation transforms generic cells into specialists - think of it like students choosing career paths. Cells express specific genes to produce proteins that enable specialised functions.

Plant meristems are growth zones containing unspecialised cells that can divide and differentiate. Apical meristems cause primary growth at shoot and root tips, whilst lateral meristems create secondary growth for thickness.

Animal stem cells come in two main types. Embryonic stem cells are pluripotent - they can become any cell type in the organism since all their genes can be activated. Tissue stem cells are multipotent, differentiating only into cell types found in their specific tissue.

Therapeutic applications include corneal repair and skin regeneration using stem cells. Research uses involve studying disease development and drug testing. However, ethical concerns arise because embryonic stem cell research requires destroying embryos, creating moral dilemmas about potential benefits versus embryo destruction.

Clinical Connection: Bone marrow stem cells can produce all blood cell types - this is why bone marrow transplants can treat blood disorders!

The Structure of the Genome

Your genome is your complete genetic instruction manual - every piece of DNA in your cells. Surprisingly, only about 2% actually codes for proteins, leaving 98% that scientists once called "junk DNA."

That remaining 98% isn't useless at all. Non-coding sequences regulate when genes are switched on or off, produce non-translated RNAs like tRNA and rRNA, and include telomeres that protect chromosome ends.

Eukaryotic genomes are particularly rich in non-coding DNA compared to prokaryotes. This complexity allows for sophisticated gene regulation, explaining why humans can be so complex despite having a similar number of genes to simpler organisms.

Understanding genome structure helps explain why gene regulation is so important - it's not just about having genes, but controlling when and how they're expressed.

Fascinating Fact: You share about 99.9% of your DNA sequence with every other human - the 0.1% difference makes you unique!

Mutations

Mutations are changes in DNA that can alter or eliminate protein production. They occur randomly and spontaneously, but mutagenic agents like radiation increase mutation rates significantly.

Single gene mutations involve changes to individual nucleotides. Substitution mutations swap one base for another, potentially causing missense (amino acid change), nonsense (premature stop), or splice-site $affecting intron/exon boundaries$ effects.

Insertion and deletion mutations cause frameshift mutations, shifting the reading frame and changing all subsequent amino acids. These often have severe consequences since they affect the entire protein downstream.

Chromosome structure mutations involve larger changes: duplication (section copied), deletion (section removed), inversion (section reversed), and translocation (section moved to different chromosome). These substantial changes are often lethal, though duplication can allow beneficial mutations in the copied gene while preserving the original.

Important: Frameshift mutations are usually more severe than substitutions because they affect multiple amino acids, not just one!

Evolution

Evolution describes changes in organisms over generations due to genomic variations. Natural selection increases beneficial DNA sequences whilst reducing harmful ones - it's not random but based on survival advantages.

Selection types create different patterns: stabilising selection favours average traits, directional selection favours one extreme, and disruptive selection favours multiple extremes. Each creates distinct changes in population characteristics over time.

Prokaryotes evolve faster than eukaryotes because they use horizontal gene transfer - directly swapping genes between individuals in the same generation. Vertical gene transfer (parent to offspring) is much slower for spreading beneficial mutations.

Speciation creates new species through isolation, mutation, and selection. Geographical barriers lead to allopatric speciation (populations separated by distance), whilst behavioural or ecological barriers cause sympatric speciation (populations separated by behaviour or ecology despite living in the same area).

Key Insight: A species is defined as organisms that can interbreed and produce fertile offspring - this is why horses and donkeys are separate species (their offspring, mules, are sterile)!

Genomic Sequencing

Genomic sequencing determines the exact order of nucleotides in genes or entire genomes. Computer programs identify genes by comparing sequences to known genetic databases - like having a molecular search engine.

Bioinformatics uses computers and statistics to compare genome data between species. Remarkably, many genes are highly conserved across different organisms, suggesting fundamental biological processes haven't changed much during evolution.

Phylogenetics studies evolutionary relationships using sequence data. Molecular clocks estimate when species diverged by assuming constant mutation rates - more sequence differences indicate longer separation times. This evidence supports the three domains of life: bacteria, archaea, and eukaryotes.

Personalised medicine analyses individual genomes to predict disease likelihood and select optimal treatments. Pharmacogenetics uses genome information to choose the most effective drugs and dosages for each person, revolutionising medical treatment approaches.

Future Impact: Your personal genome sequence could one day guide all your medical treatments, from preventing diseases before they start to choosing medications that work best with your genetic makeup!