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Ch 10: Nature, structure and organisation of genetic material. Nature of Genes-Analysing DNA. Genes made of deoxyribonucleic acid (DNA). DNA made of building blocks called nucleotides. Form a chain=4 diff types of nucleotides. Adenine-Thymine Cytosine-Guanine
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Ch 10: Nature, structure and organisation of genetic material
Nature of Genes-Analysing DNA • Genes made of deoxyribonucleic acid (DNA). DNA made of building blocks called nucleotides. • Form a chain=4 diff types of nucleotides. • Adenine-Thymine • Cytosine-Guanine • Each nucleotide has a sugar (deoxyribose) part, phosphate part and a Nitrogen base. • Sugar & phosphate always same in all 4 nucleotides. • Bases differ A, T, C, G.
DNA • When nucleotides join to form a chain, bonds form between the sugar of 1 nucleotide and phosphate group of the next nucleotide. • 1 chain of nucleotides run from head to tail • Phosphate is head end (5’ prime end) • Sugar is tail end (3’ prime end) • A-T and C-G are in equal proportion in the body. Known as Chargaff’s rule.
DNA forms a double helix • Nucleotide chain organised into double helix shape. • Each chain runs in opposite direction and are anti-parallel. • Sugar phosphate backbone of the 2 chains are on the outside of helix-coil around. • Bases arranged to point inwards. • Bases in 1 chain pair with bases on the 2nd chain. A-T, C-G are held together by hydrogen bonds between the base pairs-complementary.
DNA • DNA: • Can act as a template for its own replication. • Contain genetic instructions • Can undergo change or mutation • Base sequence could be GGTACGTA. Its complementary chain is CCATGCAT
DNA partners • DNA strand can be separated into 2 single strands- Dissociation. • Done through heating at 90*- breaks strong sugar-phosphate bond that join nucleotides in 1 chain. • Forms 2 single chains of DNA • If cools, hydrogen bonds reform and DNA becomes double helix again: Re-association. • Pairing between complementary DNA chains or parts of chains from different sources-hybridisation.
DNA to chromosomes and genes. • Longer chromosome, more DNA it has and more genes it carries. • Length of double-strand DNA determined by no. of base pairs (bp). Single strand is no. of bases (b). • DNA in a haploid cell 3000 million bp (1m). DNA divided among 23 chromosomes (4 cm) has about 120 million bp.
Mitochondria DNA • Generate and store energy in ATP form (eukaryote cells). • Have DNA and mtDNA is double stranded circular molecule. • Have 16568 bp & 37 genes • 13 code for proteins involved in cellular respiration • 2 genes code for ribosomal DNA (rRNA) • 22 genes code for transfer RNA (tRNA) • Circular mtDNA has 37 genes. 1 part (D-loop) doesn’t contain genes. Why? Becomes displaced during replication.
Gene sequencing • ATGGTGCA etc… is part of a nucleotide sequence of the HBB gene which controls production of haemoglobin. • Gene sequencing involves the process of identifying the nucleotides along a gene. • DNA bands are produced-tell you what nucleotide and the order of the bands tells you gene sequence. • Used on all org. except retrovirus because have RNA. • Different genetic instructions within & between species are due to different nucleotides sequences in the genes.
Nature of the genetic code • Genetic code in DNA contains info from joining amino acids to form proteins. • Coded Info • Nucleotide seq. in DNA • Decoded Info • Order of amino acids in proteins
Organisation of genetic code • DNA sequence can be separated into 3 bases-called triplet code or codon. • TAC,AAA,CAA,GCT,CCT • Produces amino acid: • met, phe, val, arg, gly amino acids produced. • Amino acid can be produced by more than 1 triplet code. • Amino Acid produced can be a STOP instruction or START instruction.
What is a Genome • The genome is the total set of genes carried by an individual or cell. • About 20000-25000 total. • Mainly inside the nucleus or eukaryotic cells. • Genomes of individuals usually differ in a single base of the DNA sequence. Known as Single nucleotide polymorphisms (SNP’s) • Are similarities between 2 unrelated individuals. 99.9% same but over 3 million differences!
Human Genome Project • Aims to completely analyse the genome sequence of humans. • 2 human genomes are sequenced & by comparing 2 sets of data, generalisations can be made. • Help provide info and diagnose genetic diseases • ID factors that cause diseases-help prevent • Understand how genes act and how they cause disease-treatment • Understand genetic control of human development. Proteomics: study of proteins made by the genome.
Mutations • Genetic material can change-Mutations. • Genes can appear suddenly or change in the genome-Mutation • A mutation is a change in an allele due to a change in DNA. • Is an alteration/Change in the genome. • Spontaneous mutation: when causative agent cant be identified • Induced Mutation: When causative agent can be found. • Mutagenic agents: Agents that cause mutation (x-rays, ulltraviolet/nucelar radiation, chemical substances.
Kinds of Mutations Original: AAT GTC GGA GTC 10 20 00 • Substitution: Replace 1 nucleotide with another AAT CTC GGA GTC 10 20 00 Replaced G with C at no.13 • Addition: Insert 1 or more nucleotides into DNA strand AAT GTC GGT AGT C 10 20 00 Adding a T between original nucleotides (17-18) • Deletion: removal of 1 or more nucleotides from DNA strand AAT GCG GAG TC 10 20 Deleted T between G and C from original (no 13-15)
Effects? • Sometimes no effect: Change from GGA to GAG still codes for same amino acid leu-Silent mutation • Sometimes cause major change: Change from ACA to ACT makes diff. amino acid (cys) which is a STOP. • Single base mutations (deletions) have a big effect because affect certaiin triplet but all others that follow- Frameshift mutation.
Trinucleotide repeat mutations • Some triplets codes are repeated in genome. • Trinucleotide repeat expansion (TRE) mutations involves additional repeats of these triplets and leads to disease. • Normal allele has smaller no. of nucleotide repeats whereas a mutant allele has a longer one because of all the repeats. • Mutation is unstable-repeats can change from 1 generation to the next. • E.g. HD mutated allele increases its repeats from father to kids.
Does it matter? • Somatic mutation: mutation occurs in body cell (muscle, brain etc…). Only that cell and daughter cell made by mitosis will have mutation. • Not passed onto next generation. • Germline mutation: Mutation in cell that produces gametes. • Are heritable because gamete with mutation can give rise to offspring.
DNA repair • DNA can repair itself but is limited. • Best way stop DNA damage from UV radiation-protection. • Sunblock, hats, sunscreen. • Can cause skin cancer • DNA damaging radiation in sunlight is UV-B. Increased exposure due to ozone hole.