1. Chapter 2: Genetics: Cells and Molecules

2. The Study of Genetics Cellular and Molecular Genetics: the study of genetics at he level of the basic building blocks of bodies (cells) and at the most fundamental level of genetic transmission (the DNA molecule). Classical or Mendelian Genetics: involves looking at the pedigree (a diagram used in the study of human genetics that shows the transmission of a genetic trait over generations of a family) of related individuals (plant or animal) and tracking various traits are passed from one generation to the next. Population Genetics: by examining the genetic variation within and between populations (at both the molecular level and at the level of observable traits), we can gain insights into the evolutionary history of those populations and of the species as a whole.

3. Cont. Phylogenetics: this field is concerned with determining evolutionary relationships between species, usually by constructing treelike diagrams that visually indicate how closely or distantly species are related to one another. Behavioral Genetics: involves trying to understand how the behavior of animals, including humans, is influenced by genetics.

4. THE CELL

5. Key terms Prokaryotes: single-celled organisms, such as bacteria, in which the genetic material is not separated from the rest of the cell by a nucleus. Eukaryotes: a cell that possesses a well-organized nucleus. Nucleus: in eukaryotic cells, the part of the cell in which the genetic material is separated from the rest of the cell (cytoplasm) by a plasma membrane. Cytoplasm: in a eukaryotic cell, the region within the cell membrane that surrounds the nucleus; it contains organelles, which carry out the essential functions of the cell, such as energy production, metabolism, and protein synthesis. Somatic cells: the cells of the body that not sex cells. Gametes: the sex cells: sperm in males and eggs (or ova) in females. Stem cells: undifferentiated cells found in the developing embryo that can be induced to differentiate into a wide variety of cell types or tissues. Also found in adults, although adult stem cells are not a totipotent as embryonic stem cells.

7. More key terms Deoxyribonucleic acid (DNA): a double-stranded molecule that is the carrier of genetic information. Each strand is composed of a linear sequence of nucleotides; the two strands are held together by hydrogen bonds that form between complimentary bases. Proteins: complex molecules formed form chains of amino acids (polypeptide) or form complex polypeptides. They function as structural molecules, transport molecules, antibodies, enzymes, and hormones. Protein synthesis: the assembly of proteins from amino acids, which occurs at ribosomes in the cytoplasm and is based on information carried by mRNA.

8. Cont. Ribonucleic acid (RNA): single-stranded nucleic acid that performs critical functions during protein synthesis and comes in three forms messenger RNA, transfer RNA, and ribosomal RNA. Mitochondria: organelles in the cytoplasm of the cell where energy production for the cell takes place. Contain its own DNA. Endoplasmic reticulum (ER): an organelle in the cytoplasm consisting of a folded membrane. Ribosomes: structures composed primarily of RNA, which are found on the endoplasmic reticulum. The are the site of protein synthesis.

9. DNA RNA

10. DNA structure and function DNA has to be able to do three things. 1.It must be able to make copies of itself, or replicate, so that it can be passed from generation to generation. 1.DNA replicationDNA replication 2.It has to be able to make proteins, which are the most important components of cells. 3.It must coordinate the activity of proteins to produce bodies, or have some way to translate the information it carries about making bodies into growing actual bodies (i.e. development).

11. Key terms Nucleotide: molecular building block of nucleic acids DNA and RNA; consists of phosphate, sugar, and base. Base: variable component of the nucleotides that form the nucleic acids DNA and RNA. In DNA, the bases are adenine, guanine, thymine, and cytosine. In RNA, uracil replaces thymine. Enzyme: a complex protein that is a catalyst for chemical processes in the body. Hemoglobin: protein found in red blood cells that transports oxygen. Hormone: a natural substance (often a protein) produced by specialized cells in one location of the body that influences the activity or physiology of cells in a different location. Amino acids: molecules that form the basic building blocks of protein. Polypeptide: a molecule made up of a chain of amino acids.

12. Cont. Genetic code: the system whereby the nucleotide triplets in DNA and RNA contain the information for synthesizing proteins from the twenty amino acids. Codon: a triplet of nucleotide bases in mRNA that specifies an amino acid or the initiation or termination of a polypeptide sequence. Gene: the fundamental unit of heredity. Consists of a sequence of DNA bases that carries the information for synthesizing a protein (or polypeptide) and occupies a specific chromosomal locus.

13. Genetic code for mammals

14. DNA TRANSCRIPTION AND TRANSLATION Page: 48

15. Cell Division - demo demo Mitosis: somatic cell division in which a single cell divides to produce two identical daughter cells. Meiosis: cell division that occurs in the testes and ovaries that leads to the formation of sperm and ova (gametes).

20. Key terms Chromosomes: discrete structures composed of condensed DNA and supporting proteins. Diploid number: full complement of paired chromosomes in a somatic cell. In humans, the diploid number is 46 (23 pairs of different chromosomes). Haploid number: the number of chromosomes found in a gamete, representing one from each pair found in a diploid somatic cell. In humans, the haploid number is 23. Homologous chromosomes: members of the same pair of chromosomes (or autosomes). Homologous chromosomes undergo crossing over during meiosis. Alleles: alternative versions of a gene, Alleles are distinguished from one another by their differing effects on the phenotypic expression of the same gene.

21. Cont. Homozygous: having the same allele at the loci for a gene on both members of a pair of homologous chromosomes (or autosomes). Locus: the location of a gene on a chromosome. The locus for a gene is identified by the number of the chromosome on which it is found and its position on the chromosome. Heterozygous: having two different alleles at the loci for a gene on a pair of homologous chromosomes (or autosomes).

24. Key terms Karyotype: the complete chromosomal complement of an individual, usually based on a photograph of the chromosomes visualized under a microscope. Autosomes: any of the chromosomes other than the sex chromosomes. Sex chromosomes: in mammals, chromosomes X and Y, with XX producing females and XY producing males. Nondisjunction error: the failure of homologous chromosomes (chromatids) to separate properly during cell division. When it occurs during meiosis, it may lead to the formation of gametes that are missing a chromosome or have an extra copy of a chromosome.

25. MOLECULAR TOOLS FOR BIOANTHROPOLOGICAL RESEARCH HGP

26. PCR, Mitochondrial DNA, and Ancient DNA Polymerase chain reaction (PCR): method for amplifying DNA sequences using the Taq polymerase enzyme. Can potentially produce millions or billons of copies of a DNA segment starting from a very small number of target DNA. Mitochondrial DNA: small loop of DNA found in mitochondria. It is clonally and maternally inherited. Ancient DNA: In contrast to modern material the DNA extracted from fossil remains like bones or coprolites show a variety of types of damage. The most obvious type of damage is fragmentation caused by single stand breaks which lead to a reduced average molecule length of the extracted DNA. Depending on this length the molecular analysis via PCR of a given sample is either complicated due to a limited amplicon size or impossible at all.I n order to improve the integrity of the extracted DNA from ancient samples the status of the DNA and its damage is determined and an enzymatic approach is attempted to restore DNA by filling in gaps as well as 5′overhangs and sealing nicks. We are exploring various enzymatic repair strategies for our DNA extracts. - McMaster Ancient DNA Centre