Physical Anthropology 1 Milner-Rose

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1 Physical Anthropology 1 Milner-Rose Chapter 3 Genetics: Reproducing Life and Producing Variation Our Origins By Clark Spencer Larsen

2 Natural Selection operates on the levels of the 1. living, behaving individual organism who uses its personal traits to survive and reproduce. 2. chromosomes, made up of genes strung together that determine the individual s personal traits. 3. DNA code made up of biochemical bases strung together. A stretch of bases = a gene, or allele. 4. RNA that translates the code into proteins. It is in copying the DNA code as the body produces sperm or egg that mutations occur. Mutations are copy mistakes that create variation between individual members of a population. Fitness of traits varies between individuals & environments.

3 Individual Variation The result of 1. RNA errors in translation into protein 2. DNA code bases altered (mutation) 3. Chromosome irregularities 4. Growth and Development a. nutrition, nurturing b. chemical exposure c. injury or accident d. disease, environment

4 3 Stages of Embryonic Development 1. Zygote: the fertilized egg, a combination of parental sex cells (sperm + egg), with its machinery to divide and multiply. 2. Embryo: differentiation into organs and regional systems of the body. 3. Fetus: gender instructions in the DNA which directs the development of sexual organs and the brain. 4. Baby: viable, premature or full-term.

5 Figure 3.13 Embryonic Development Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

6 The Evolution of the Cell Two types of organisms: Prokaryotes (one celled organisms that evolved first and have no nuclear membrane to contain the DNA) Eukaryotes (organisms that are made up of many cells evolved later and have nuclear membranes to contain its DNA)

7 Figure 3.2a Prokaryotes and Eukaryotes Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

8 Figure 3.1 Cells and Their Organelles Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

9 The Cell Two types of cells Gametes (reproductive or sex cells): sperm and egg in sexually reproducing animals, pollen in plants, spores in fungi, etc. Somatic (body) cells, every cell in the organism except the gametes

10 Figure 3.4a Gametes-Human Male Sex Cells Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

11 Figure 3.4b Gametes-A Human Female Sex Cell Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

12 Figure 3.4c Gametes-Ovum Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

13 Figure 3.3f Somatic Cells-Skin Cells Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

14 The DNA Molecule Nuclear DNA Contained within the nucleus of a cell Makes up genes and therefore also chromosomes (strings of genes) Complete set of nuclear DNA is called the genome of a particular species of animal, plant, or bacteria. Your personal genome is all your DNA.

15 Figure 3.5a Chromosomes Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

16 The DNA Molecule DNA: the blueprint of life DNA is the biochemical instructions to make every aspect of organism s structure and function, like a recipe DNA has a double helix structure, a ladder-like spiral that can split apart The DNA ladder is formed of nucleotides (1 nitrogen base + 1 phosphate + 1 sugar)

17 Figure 3.9 Nucleotide Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

18 Figure 3.8 The Structure of DNA Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

19 The DNA Molecule The sequence of bases is the DNA code. There are 4 types of bases that make up the ladder: Adenine, Thymine, Guanine, and Cytosine Adenine is attracted to and will bond only with Thymine. Guanine is attracted to and will bond only with Cytosine. These pair bonds help create the rungs of the ladder. A-T, C-G + a phosphate and sugar on the sides create strands of DNA, linking each nucleotide together.

20 Another kind of DNA Molecule Mitochondrial DNA MtDNA Contained in organelles floating around outside of the nucleus in the cytoplasm of the cell, called mitochondria MtDNA is inherited from the mother s egg cell which has cytoplasm. Sperm have no cytoplasm and therefore no organelles or MtDNA. It is a nucleus with a tail for mobility. ( Have nuclear DNA, will travel )

21 Figure 3.1 Cells and Their Organelles Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

22 Replicating the Code One function of the DNA molecule is replication, making copies of itself DNA replication occurs in cell division meiosis or mitosis DNA makes identical copies of itself. Chromosome Types All chromosomes occur in homologous pairs (govern the same traits) Each parent contributes one chromosome of each pair to offspring

23 Figure 3.10 The Steps of DNA Replication Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

24 Figure 3.14b A Human Skin Cell Undergoing Mitosis, Dividing into Two New Daughter Cells Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

25 Figure 3.12a The Human Karyotype Consists of 46 Chromosomes of Various Sizes in 23 Pairs Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

26 Figure 3.12b In this Karyotype, the Pair Labeled XY Belong to a Human Male Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

27 Replicating the Code Autosomes (non-sex chromosomes) Sex chromosomes: X, Y Females have two X chromosomes, while males have one X and one Y chromosome. The father determines the sex of the offspring because half of his sperm carries X chromosomes and half carry Y. All eggs have one X chromosome.

28 Figure 3.6 Nuclear DNA Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

29 Mitosis: Production of Identical Somatic (body) Cells DNA replication followed by one cell division All body cells are diploid (contain a full set of chromosomes in the nucleus)

30 Figure 3.14a The Steps of Mitosis in Humans Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

31 Meiosis: Production of Gametes (sex cells: sperm, egg) One DNA replication followed by two cell divisions All gametes are haploid (contain half the number of chromosomes). Does not result in identical cell copies Errors can occur during meiosis that produce mutations or genetic problems Nondisjunction, translocation

32 Figure 3.15 Meiosis Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

33 Figure 3.20a The Hand on the Right Shows Normal Finger Growth. The Hand on the Left has much Longer and Thinner Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

34 Figure 3.20b Marfan Syndrome Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

35 Producing Proteins Proteins are biochemicals that make up tissues: soft tissue & hard (bone,teeth) Proteins regulate functions, repair, and growth of tissues Proteins are made up of amino acids. 20 different types of amino acids You must eat protein to have all 20 amino acids available for your body to grow, repair and function.

36 Figure 3.18b Structural Proteins-Collagen Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

37 Normal Bone, on the Left, and Osteoporotic Bone, on the Right Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

38 Figure 3.18a Structural Proteins-Keratin Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

39 Producing Proteins Structural proteins are responsible for physical characteristics: bones, hair Regulatory proteins are responsible for functions: enzymes, hormones, antibodies Protein synthesis involves two steps. Transcription (DNA unzips, provides base sequence for RNA to copy) Translation (RNA copy attaches to ribosomes and amino acids are linked)

40 Figure 3.19a Protein Synthesis Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

41 Figure 3.19b Protein Synthesis Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

42 Producing Proteins DNA in protein synthesis is coding DNA. Coding DNA has the recipe for proteins. DNA determines our species and personal traits through the proteins. However, Most of human DNA is noncoding, doesn t produce proteins. Why? Most of our DNA code is the same as other backboned species.

43 Figure 3.21 Homeotic (Hox) Genes Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

44 Genes: Structural and Regulatory Structural genes are responsible for body structures: bones, teeth, hair Functional genes are responsible for body functions: hormones, enzymes Regulatory genes turn other genes on and off during growth and development. Homeotic (Hox) genes Master genes

45 Polymorphisms Each gene has a specific physical location or locus along the chromosome. Genes at the same locus on paired chromosomes can be the same or different. Alleles are chemically alternative versions of a gene at a certain locus. The alleles contributed by each parent in combination determines the protein produced and therefore the trait that results in the offspring: dominant, recessive, co-dominant. Polymorphism means multiple forms.

46 Polymorphisms Some genes have one variety or allele, while others have more. Mendel s Law of Segregation: a parent passes one allele to offspring Single Nucleotide Polymorphisms (SNPs) Make up variation between and within human populations

47 DNA from 4,000-Year-Old Human Hair Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

48 Polymorphisms Genotypes and Phenotypes: Genes and Their Physical Expression Chemically identical alleles are termed homozygous. Chemically different alleles are heterozygous. Dominant allele is expressed in the pair over the recessive. For a recessive allele to be expressed, there must be two copies.

49 Figure 3.23 Law of Segregation Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

50 Polygenic Variation and Pleiotropy Much of genetics is based on the one gene, one protein model. This is because Mendel s pea plants worked like that, ex. green color is dominant in peas and yellow is surpressed by the presence of a single dominant green allele. However, many traits are polygenic and are determined by genes at more than one locus, some far away on a different chromosome. Sometimes one gene has numerous effects in the body and is called pleiotropic.

51 Polygenic Variation and Pleiotropy For some traits, only some of the genetic variation can be calculated (heritability). Heritability ranges from 0 (none of the variation is genetic) to 1 (all of the variation is genetic). Only heritable traits respond to natural selection. Some Phenotypic traits develop as a consequence of a genetic possibility plus development or environmental conditions.

52 Individual Variation The result of 1. RNA errors in translation into protein 2. DNA code bases altered (mutation) 3. Chromosome irregularities 4. Growth and Development a. nutrition, nurturing b. chemical exposure c. injury or accident d. disease, environment

53 Polygenic Variation and Pleiotropy Measurement of heritability is complicated by pleiotropy, or a single allele having multiple effects. Most complex traits are both pleiotropic and polygenic. Mendel was lucky that he chose pea plants to experiment on because pea plants are simple (monogenic) in inheritance, ie. one locus with only two alleles possible produce one trait in the phenotype. Most animals and plants are much more complicated.

54 Figure 3.24 Polygenic Traits and Pleiotropic Genes Our Origins, 2nd Edition Copyright 2011 W.W. Norton & Company

55 Chapter 3: Clicker Questions Human and chimpanzee DNA is about similar. a) 100% b) 98% c) 90% d) 75%

56 Chapter 3: Clicker Questions If one side of the DNA ladder includes the sequence CTAATGT, the complementary base configuration for this sequence will be: a) GCAACGC. b) AGCCGTG. c) TAATGTC. d) GATTACA.

57 Chapter 3: Clicker Questions The human karyotype consists of pairs of chromosomes. a) 23 b) 46 c) 48 d) 24

58 Chapter 3: Clicker Questions Blocks of genetic material that do not recombine and are passed on for generations are called: a) phenotypes. b) genotypes. c) karyotypes. d) haplotypes.

59 Chapter 3: Clicker Questions Regulatory or functional proteins include: a) lactase. b) testosterone. c) antibodies. d) All of the above

60 Chapter 3: Clicker Questions In protein synthesis, refers to unzipping the DNA and refers to the formation of polypeptide chains. a) division / replication b) transcription / translation c) meiosis / mitosis d) translocation / nondisjunction

61 Chapter 3: Clicker Questions Prokaryotes have multiple cells while eukaryotes have one. a) True b) False

62 Art Presentation Slides Chapter 3

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