Human Genetics Concepts and Applications Tenth Edition RICKI LEWIS Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display.

Human GeneticsConcepts and Applications

Tenth Edition

RICKI LEWIS

Copyright ©The McGraw-Hill Companies, Inc. Permission required for reproduction or display

PowerPoint® Lecture Outlines Prepared by Johnny El-Rady, University of South Florida

2 Cells

2

Introducing Cells

Cellular activities and abnormalities underlie our inherited traits, quirks, and illnesses

Understanding genetic diseases can suggest ways to treat the condition

Lack of

dystrophin

Figure 2.1

3

Introducing Cells

Our bodies include more than 260 cell types

Somatic (body) cells have two copies of the genome and are said to be diploid

Sperm and egg cells have one copy of the genome and are haploid

Stem cells can both replicate themselves and give rise to differentiated cells

4

Types of Cells

All cells can be divided into two main types

Prokaryotic cells

- Lack a nucleus

Eukaryotic cells

- Possess a nucleus and other organelles

Figure 2.2

5

Domains of Life

Biologists recognize three broad categories of organisms

Archaea – Unicellular prokaryotes

Bacteria – Unicellular prokaryotes

Eukarya – Includes both unicellular and multicellular eukaryotes

6

Chemical ConstituentsCells contain four types of macromolecules

Type Examples Functions

Carbohydrates Sugars, starches Energy, structure

Lipids Fats, oils Membranes, hormones

Proteins Myosin, collagen Enzymes, structure

Nucleic Acids DNA, RNA Genetic information

7Figure 2.3

An Animal Cell

Surrounded by the plasma membrane

Contains:

- Cytoplasm

- Organelles

- Divide labor by partitioning certain areas or serving specific functions

8

An Animal Cell

Figure 2.3

Figure 2.3

9Figure 2.3

The Nucleus

The largest structure in a cell

Surrounded by a double-layered nuclear envelope

Contains:

- Nuclear pores that allow movement of some molecules in and out

- Nucleolus, which is the site of ribosome production

- Chromosomes composed of DNA and proteins

10

Figure 2.3

Figure 2.4

The Nucleus

Figure 2.4

11

Secretion illustrates how organelles function together to coordinate the basic functions of life

Figure 2.5

12Figure 2.3

Endoplasmic Reticulum (ER)

Interconnected membranous tubules & sacs

Winds from the nuclear envelope to the plasma membrane

Rough ER contains ribosomes and is involved in protein synthesis

Smooth ER does not contain ribosomes and is important in lipid synthesis

13Figure 2.3

Golgi Apparatus

Stack of flat membrane-enclosed sacs

Processing center that adds sugars forming glycoproteins and glycolipids

Site of final protein folding

Products are released into vesicles that bud off to the plasma membrane

14Figure 2.3

LysosomesMembrane-bound sacs

containing > 40 types of digestive enzymes

Break down bacteria, cellular debris, and nutrients

Tay-Sachs is an inherited lysosomal storage disorder Figure 2.6

15Figure 2.3

Peroxisomes

Sacs with outer membranes studded with several types of enzymes

Break down lipids, rare biochemicals

Synthesize bile acids

Detoxify compounds from free radicals

Abundant in liver and kidney cells

16Figure 2.3

MitochondriaSurrounded by two

membranes

Site of ATP (energy) production

Contain their own circular DNA

Human mitochondrial DNA is inherited only from the mother

Figure 2.7

17

Structures and Functions of Organelles

Table 2.1

18Figure 2.3

Plasma Membrane

Forms a selective barrier

A phospholipid bilayer

- Phosphate end (hydrophilic)

- Fatty acid chains (hydrophobic)

Figure 2.8

19Figure 2.3

Plasma Membrane

Contains proteins, glycoproteins, and glycolipids

- Important to cell function and interactions

- May be receptors

- Form channels for ions

Figure 2.9

20Figure 2.3

Faulty Ion Channels Cause Inherited Diseases

Sodium channels

- Mutations lead to absence or extreme pain

Potassium channels

- Mutations lead to impaired heart function and deafness

Chloride channels

- Mutations lead to cystic fibrosis

21Figure 2.3

Cytoskeleton

A meshwork of protein rods and tubules

Includes three major types of proteins

- Microtubules

- Microfilaments

- Intermediate filaments

Figure 2.10

22Figure 2.3

Cytoskeleton Functions

Maintain cell shape

Connect cells to each other

Transport organelles and small molecules

Provide cell motility (some cell types)

Move chromosomes in cell division

Compose cilia

23Figure 2.11

24Figure 2.12

25Figure 2.3

Cell Division and Death

Normal growth and development require an intricate interplay between the rates of two processes

Mitosis – Cell division

- Produces two somatic cells from one

Apoptosis – Cell death

- Precise genetically-programmed sequence

26Figure 2.12

Figure 2.13

27Figure 2.3

The Cell CycleThe sequence of events associated with cell division

G phase: Gap for growth

S phase: DNA synthesis

M phase: Mitosis (nuclear division)

Cytokinesis: Cell division

Figure 2.14

28Figure 2.3

Stages of the Cell Cycle

Interphase

- Prepares for cell division

- Replicates DNA and subcellular structures

- Composed of G1, S, and G2

- Cells may exit the cell cycle at G1 or enter G0, a quiescent phase

Mitosis – Division of the nucleus

Cytokinesis – Division of the cytoplasm

29Figure 2.3

Replication of Chromosomes

Chromosomes are replicated during S phase prior to mitosis

The result is two sister chromatids held together at the centromere

Figure 2.15

30Figure 2.3

MitosisUsed for growth, repair, and replacement

Consists of a single division that produces two identical daughter cells

A continuous process divided into 4 phases

- Prophase

- Metaphase

- Anaphase

- Telophase

31

Figure 2.15

Figure 2.16

Mitosis in a Human Cell

32Figure 2.3

Prophase

Replicated chromosomes condense

Microtubules organize into a spindle

Nuclear envelope and nucleolus break down

Figure 2.16

33Figure 2.3

Metaphase

Chromosomes line up on the cell’s equator

Spindle microtubules are attached to centromeres of chromosomes

Figure 2.16

34Figure 2.3

Anaphase

Centromeres divide

Chromatids separate and become independent chromosomes

- They move to opposite ends of the cell

Figure 2.16

35Figure 2.3

Telophase

Chromosomes uncoil

Spindle disassembles

Nuclear envelope reforms

Figure 2.16

36Figure 2.3

Cytokinesis

Cytoplasmic division occurs after nuclear division is complete

Organelles and macromolecules are distributed between the two daughter cells

Microfilament band contracts, separating the two cells

37Figure 2.3

Cell Cycle Control

Checkpoints ensure that mitotic events occur in the correct sequence

Internal and external factors are involved

Many types of cancer result from faulty checkpoints

38

Figure 2.16

Cell Cycle Control

Figure 2.17

39Figure 2.3

TelomeresLocated at the ends of the chromosomes

Contain hundreds to thousands of repeats of a 6-base DNA sequence

Most cells lose 50-200 endmost bases after each cell division

After about 50 divisions, shortened telomeres signal the cell to stop dividing

Sperm, eggs, bone marrow, and cancer cells produce telomerase that prevent shortening of telomeres

40Figure 2.18

41Figure 2.3

Apoptosis

Begins when a cell receives a “death signal”

Killer enzymes called caspases are activated

-Destroy cellular components

Phagocytes digest the remains

Dying cell forms bulges called blebs

42

Programmed cell death is part of normal development

Figure 2.18

Mitosis and apotosis work together to form functional body

Cancer can result from too much mitosis, too little apotosis

Figure 2.19

43Figure 2.3

Cell-to-Cell Interactions

Make multicellular life possible

Two broad types

1) Signal transduction

2) Cellular adhesion

Defects cause certain inherited disorders

44Figure 2.3

Signal Transduction

The process of transmitting a signal from the environment to a cell

- Receptor binds to “first messenger”

- Interacts with regulator

- Causes enzyme to produce “second messenger”

- Elicits cellular response, which is typically enzyme activation

- Amplification due to cascade

45

Figure 2.19

Signal Transduction

Figure 2.20

46Figure 2.3

Cellular Adhesion

A precise sequence of interactions among proteins that connect cells

Example = Inflammation

- Three types of cellular adhesion molecules (CAMs) help guide WBCs to the injured area

- Secretins, integrins, and adhesion receptor proteins

47Figure 2.20

Cellular Adhesion

Figure 2.21

48Figure 2.3

Stem Cells

A stem cell divides by mitosis

- Produces daughter cells that retain the ability to divide and some that specialize

Progenitor cells do not have the capacity of self-renewal

Figure 2.22

49Figure 2.3

Stem Cells

All cells in the human body descend from stem cells via mitosis and differentiation

Cells differentiate down cell lineages by differential gene expression

Stem cells are present throughout life and provide growth and repair

50Figure 2.3

Figure 2.23

51Figure 2.3

Stem Cells

Stem cells and progenitor cells are described in terms of their developmental potential

Totipotent – Can give rise to every cell type

Pluripotent – Have fewer possible fates

Multipotent – Have only a few fates

52Figure 2.3

Stem Cells in Health Care

There are 3 general sources of human stem cells

1) Embryonic stem cells – Created in a lab dish using the inner cell mass (ICM) of an embryo

2) Induced pluripotent stem (iPS) cells – Somatic cells reprogrammed to differentiate into any of several cell types

3) Adult stem cells – Tissue-specific or somatic stem cells

53Figure 2.24

Stem Cells in Health Care

Figure 2.24

54Figure 2.3

Stem Cell Applications

Stem cells are being used in four basic ways

1) Discovery and development of drugs

2) Observing the earliest sign of disease

3) Treatment of disease via implants and transplants

4) Stimulating stem cells in the body via the introduction of reprogramming proteins

55Figure 2.3

Stem Cell Applications

Figure 2.25