Higher Human Biology
Unit 1 Human Cells Summary

(a) Somatic cells divide by mitosis to form more somatic cells.
(b) Cellular differentiation is the process by which a cell develops more specialised functions by expressing the genes characteristic for that type of cell.
(c) Stem cells — embryonic and tissue (adult) stem cells. Stem cells are unspecialised somatic cells that can divide to make copies of themselves (self-renew) and/or differentiate into specialised cells. Tissue (adult) stem cells are involved in the growth, repair and renewal of the cells found in that tissue. They are multipotent. The main body tissue types are epithelial, connective, muscle and nerve tissue. The body organs are formed from a variety of these tissues. The cells of the early embryo can make all of the differentiated cell types of the body. They are pluripotent. When grown in the lab scientists call these embryonic stem cells.
(d) Germline cells divide by mitosis to produce more germline cells or by meiosis to produce haploid gametes. Mutations in germline cells are passed to offspring. Mutations in somatic cells are not passed to offspring.
(e) Research and therapeutic uses of stem cells by reference to the repair of damaged or diseased organs or tissues. Stem cells can also be used as model cells to study how diseases develop or for drug testing. The ethical issues of stem cell use and the regulation of their use.
(f) Cancer cells divide excessively to produce a mass of abnormal cells (a tumour) that do not respond to regulatory signals and may fail to attach to each other. If the cancer cells fail to attach to each other, they can spread through the body to form secondary tumours.
2 Structure and replication of DNA
(a) Structure of DNA – nucleotides contain deoxyribose sugar, phosphate and base. DNA has a sugar–phosphate backbone, complementary base pairing — adenine with thymine and guanine with cytosine. The two DNA strands are held together by hydrogen bonds and have an antiparallel structure, with deoxyribose and phosphate at 3' and 5' ends of each strand.
(b) Chromosomes consist of tightly coiled DNA and are packaged with associated proteins.
(c) Replication of DNA by DNA polymerase and primer. DNA is unwound and unzipped to form two template strands. DNA polymerase needs a primer to start replication and can only add complementary DNA nucleotides to the deoxyribose (3') end of a DNA strand. This results in one strand being replicated continuously and the other strand replicated in fragments which are joined together by ligase.

3 Gene expression
(a) Phenotype is determined by the proteins produced as the result of gene expression. Only a fraction of the genes in a cell are expressed.
Gene expression is influenced by intra- and extra-cellular environmental factors. Gene expression is controlled by the regulation of both transcription and translation.
(b) Structure and functions of RNA.
RNA is single stranded, contains uracil instead of thymine and ribose instead of deoxyribose sugar. Messenger RNA (mRNA) carries a copy of the DNA code from the nucleus to the ribosome. Ribosomal RNA (rRNA) and proteins form the ribosome. Each transfer RNA (tRNA) carries a specific amino acid.
(c) Transcription of DNA into primary and mature RNA transcripts in the nucleus. This should include the role of RNA polymerase and complementary base pairing.
The introns of the primary transcript of mRNA are non-coding and are removed in RNA splicing. The exons are coding regions and are joined together to form mature transcript. This process is called RNA splicing.
(d) Translation of mRNA into a polypeptide by tRNA at the ribosome.
tRNA folds due to base pairing to form a triplet anticodon site and an attachment site for a specific amino acid. Triplet codons on mRNA and anticodons translate the genetic code into a sequence of amino acids. Start and stop codons exist. Codon recognition of incoming tRNA, peptide bond formation and exit of tRNA from the ribosome as polypeptide is formed.
(e) Different proteins can be expressed from one gene as a result of alternative RNA splicing and post translational modification. Different mRNA molecules are produced from the same primary transcript depending on which RNA segments are treated as exons and introns. Post translation protein structure modification by cutting and combining polypeptide chains or by adding phosphate or carbohydrate groups to the protein.
4 Genes and proteins in health and disease
(a) Proteins are held in a three dimensional shape by peptide bonds, hydrogen bonds, interactions between individual amino acids.    Polypeptide chains fold to form the three dimensional shape of the protein.
(b) Mutations result in no protein or a faulty protein being expressed.
Single gene mutations involve the alteration of a DNA nucleotide sequence as a result of the substitution, insertion or deletion of nucleotides. Nature of single-nucleotide substitutions including: missense, nonsense and splice-site mutations. Nucleotide insertions or deletions result in frame-shift mutations or an expansion of a nucleotide sequence repeat. The effect of these mutations on the structure and function of the protein synthesised and the resulting effects on health.
Chromosome structure mutations – deletion; duplication; translocation.  The substantial changes in chromosome mutations often make them lethal.

5 Human genomics
(a) Sequencing DNA. Bioinformatics is the use of computer technology to identify DNA sequences. Systematics compares human genome sequence data and genomes of other species to provide information on evolutionary relationships and origins. Personalised medicine is based on an individual’s genome. Analysis of an individual’s genome may lead to personalised medicine through understanding the genetic component of risk of disease.
(b) Amplification and detection of DNA sequences.
Polymerase Chain Reaction (PCR) amplification of DNA using complementary primers for specific target sequences. DNA heated to separate strands then cooled for primer binding. Heat tolerant DNA polymerase then replicates the region of DNA. Repeated cycles of heating and cooling amplify this region of DNA. Arrays of DNA probes are used to detect the presence of specific sequences in samples of DNA. The probes are short single stranded fragments of DNA that are complementary to a specific sequence. Fluorescent labelling allows detection. Applications of DNA profiling allow the identification of individuals through comparison of regions of the genome with highly variable numbers of repetitive sequences of DNA.
6 Metabolic pathways
(a) Anabolic pathways require energy and involve biosynthetic processes. Catabolic pathways release energy and involve the breakdown of molecules. These pathways can have reversible and irreversible steps and alternative routes.
(b) Control of metabolic pathways - presence or absence of particular enzymes and the regulation of the rate of reaction of key enzymes within the pathway. Regulation can be controlled by intra and extracellular signal molecules.
Induced fit and the role of the active site of enzymes including shape and substrate affinity. Activation energy. The effects of substrate and end product concentration on the direction and rate of enzyme reactions. Enzymes often act in groups or as multi-enzyme complexes. Control of metabolic pathways through competitive (binds to active site), non-competitive (changes shape of active site) and feedback inhibition (end product binds to an enzyme that catalyses a reaction early in the pathway).

7 Cellular respiration
(a) Glucose broken down, removal of hydrogen ions and electrons by dehydrogenase enzymes releasing ATP.
(b) The role of ATP in the transfer of energy and the phosphorylation of molecules by ATP.
(c) Metabolic pathways of cellular respiration. The breakdown of glucose to pyruvate in the cytoplasm in glycolysis, and the progression pathways in the presence or absence of oxygen (fermentation). The phosphorylation of intermediates in glycolysis in an energy investment phase and the generation of ATP in the energy pay-off phase. The role of the enzyme phosphofructokinase in this pathway. The formation of citrate. Pyruvate is broken down to an acetyl group that combines with coenzyme A to be transferred to the citric acid cycle as acetyl coenzyme A. Acetyl (coenzyme A) combines with oxaloacetate to form citrate followed by the enzyme mediated steps of the cycle. This cycle results in the generation of ATP, the release of carbon dioxide and the regeneration of oxaloacetate in the matrix of the mitochondria. Dehydrogenase enzymes remove hydrogen ions and electrons which are passed to the coenzymes NAD or FAD to form NADH or FADH2 in glycolysis and citric acid pathways. NADH and FADH2 release the high-energy electrons to the electron transport chain on the mitochondrial membrane and this results in the synthesis of the bulk of the ATP.
(d) ATP synthesis — high-energy electrons are used to pump hydrogen ions across a membrane and flow of these ions back through the membrane synthesises ATP using the membrane protein ATP synthase. The final electron acceptor is oxygen, which combines with hydrogen ions and electrons to form water.
Substrates for respiration. The role of starch, glycogen, other sugar molecules, amino acids and fats in the respiratory pathway.
Regulation of the pathways of cellular respiration by feedback inhibition — regulation of ATP production, by inhibition of phosphofructokinase by ATP and citrate, synchronisation of rates of glycolysis and citric acid cycle.
8 Energy systems in muscle cells
(a) Creatine phosphate breaks down to release energy and phosphate that is used to convert ADP to ATP at a fast rate. This system can only support strenuous muscle activity for around 10 seconds, when the creatine phosphate supply runs out. It is restored when energy demands are low.
(b) Lactic acid metabolism. Oxygen deficiency, conversion of pyruvate to lactic acid, muscle fatigue, oxygen debt.
(c) Types of skeletal muscle fibres
Differences between slow twitch and fast twitch muscle fibres.
Slow twitch (Type 1) muscle fibres contract more slowly, but can sustain contractions for longer and so are good for endurance activities. Fast twitch (Type 2) muscle fibres contract more quickly, over short periods, so are good for bursts of activity.