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Genetics: field of biology that studies genes and their inheritance Gene Segment of DNA that encodes a functional product, usually a protein Genome = All of the genetic material (DNA) in a cell. Prokaryotic cell has only one genome located in the nuclear area. Eukaryotic cell has 2 genomes Nuclear genome Mitochondrial genome If not specified, “genome” usually refers to the nuclear genome. In human beings genes constitute only 3 % of the human genome. The remaining 97 % of the genome – have yet no known functions! These regions are called non-coding regions. Genome = Coding regions (genes) + noncoding regions. Genetics is the study of single specific, individual genes in isolation and their role in inheritance e.g. "monogenic" diseases such as sickle cell anaemia and cystic fibrosis, caused by an error in a single gene Genomics is the study of all the genes in the genome and the interactions among them and their environment (or non-genetic factors such as a person's lifestyle) Improve understanding of complex diseases such as diabetes, heart disease, and asthma Genetics is the study of single specific, individual genes in isolation and their role in inheritance e.g. "monogenic" diseases such as sickle cell anemia and cystic fibrosis, caused by an error in a single gene. • "Genotype" is an organism's full hereditary information. • "Phenotype" is an organism's actual observed properties, such as morphology, development, or behaviour Structure and Function of Genetic Material Genetic Material = DNA or RNA ▪ In the vast majority of organisms, genetic material is DNA (deoxyribonucleic acid) ▪ In some viruses , genetic material is RNA (ribonucleic acid) Genetic Material: Basic Building Units • Nucleotides • Phosphate group • Pentose sugar • Nitrogenous base Double stranded (double helix) Adenine (A), thymine(T), cytosine(C) and guanine(G) "Backbone" is deoxyribose-phosphate Strands held together by hydrogen bonds between AT and CG 5’ to 3’ (strands are anti-parallel) Complimentary base pairing A-T • G-C Hydrogen bonds Bacteria have closed, circular DNA E. coli 4 million base pairs 1 mm long (over 1000 times longer that actual bacterial cell) DNA takes up around 10% of cell volume Helicases Single stranded DNA binding protein Polymerase III 3’ 5’ DNA template RNA Primase 1 Synthesizing leading strand starts by binding a short RNA segment (primer) to single DNA template by RNA primase in 5’ to 3’ direction. 2 3 DNA Replication Polymerase III finishes the building up of leading strand continuously in 5’ to 3’ direction Finally, polymerase I, a cousin of polymerase III, replaces RNA primer with DNA. RNA primers In the synthesis of the lagging strand, the helix uncoiling occurs in the opposite direction to which polymerase III works. Therefore, the process has to be done in pieces (notcontinous). These pieces are called Okazaki fragments. Polmerase III synthesizes short DNA segments between RNA primers. Polymerse I replaces RNA primers with DNA. Finally, DNA ligase enzyme binds DNA pieces together to create lagging strand