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Cell Structure & Function . LECTURE OUTLINE. DNA Replication . Protein Synthesis . Mutations . Simple Inheritance . Genetic Disorders . SIZE COMPARISONS. MUTATIONS. PHOSPHOLIPID MEMBRANE. Compartmentalization . Protection . Cell recognition . Entry/exit . Fluid mosaic . NUCLEUS.

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Presentation Transcript
slide1

Cell Structure & Function

LECTURE OUTLINE

DNA Replication

Protein Synthesis

Mutations

Simple Inheritance

Genetic Disorders

slide6

PHOSPHOLIPID

MEMBRANE

Compartmentalization

Protection

Cell recognition

Entry/exit

Fluid mosaic

slide7

NUCLEUS

Stores genes on chromosomes

Produce ribosomes

Transport regulatory factors & gene products

slide8

MITOCHONDRIA

Energy from glucose

Produce ATP

Have their own DNA

Eukaryotes

“Powerhouse”

Tissue types

slide9

RIBOSOME

Free-floating in cytoplasm

Bound to membranes

Protein synthesis

Translate mRNA

Two subunits

Larger in eukaryotes

Ribosome - ER - golgi

Thousands per cell

slide11

Network of channels

Communication

Ribosome-studded

Protein transport

ENDOPLASMIC RETICULUM

slide12

SMOOTH ENDOPLASMIC

RETICULUM

No ribosomes

Lipid transport

Large surface area

Enzyme attachment

slide13

GOLGI APPARATUS

Polar ends

Flattened sacs

Vesicles

ER

Packaging center

Proteins

Cells w/secretory role

slide14

CENTRIOLE

Right angle cylinders

Microtubules

Spindle fibers

Cell division

slide15

Hitchhiker’s Thumb

Attached Earlobe

Unattached Earlobe

Ear Wax

Ear Diagram

Tongue Roll

Tongue Flip

Tongue Fold

slide16

Bent Pinky

Dimples

Hand Fold

PTC Tasting

Widow’s Peak

Mid-digital hair

Short Hallux

Finger Length

Bent Little

Finger

slide17

Autosomal Recessive Traits

Only expressed in individuals that have two copies of the relevant gene. More frequent with inbreeding, isolated

groups.

Autosomal Dominant Traits

Expressed even if only one copy of the gene is inherited. Effects sometimes show up later in life.

Sex-linked Traits

Associated with genes on the X chromosome.

Chromosomal Abnormalities

Deletions, Duplications, Inversions, Translocations

Nondisjunction and Aneuploidy

Extra or missing chromosomes

slide18

female

marriage

proband

male

consanguineous marriage

diseased

Dizygotic twins

Affected

individuals

Extra-marital

mating

identical

(monozygotic)

twins

?

Female carrier of an x-linked trait

Stillborn

or abortion

Unknown

phenotype

progeny

carrier

slide20

GENERATIONS

Generations are numbered w/Roman numerals. Within each generation, individuals are numbered from oldest to youngest.

slide21

AUTOSOMAL DOMINANT INHERITANCE

Approximately a 1:1 ratio of affected vs. unaffected progeny with one affected parent.

Transmission can occur from affected father to affected son.

Direct transmission from an affected parent to an affected child.

(Affected children always have an affected parent.)

slide22

AUTOSOMAL RECESSIVE INHERITANCE

Affected parents can have affected offspring.

However, affected children typically do not have affected parents.

Affected individuals can be either male or female.

slide23

More affected males than females.

Affected grand-father to grand-son thru carrier female.

SEX-LINKED

RECESSIVE TRAITS

Females do not manifest the disorder.

slide26

DOMINANT DISEASE

Huntington’s Disease

  • Woody Guthrie
  • Arlo Guthrie
  • Children

Lobster Foot

Dominant allele -- you have the disease or you don’t

slide27

RECESSIVE DISEASE

  • Albinism
  • Achondroplasia
  • Both parents can be carriers to have an affected child
  • 2 affected parents will usually produce an affected child
  • Dominant doesn’t necessarily mean commonplace
slide28

AVERY, MACLEOD, MCCARTY

1944 -- First experimental evidence that DNA transmits genetic information.

slide29

FRANKLIN, WATSON, CRICK, WILKINS

1953-- Using an x-ray pattern of DNA generated by Rosalind Franklin, Maurice Wilkins, James Watson and Francis Crick publish their double-helix model DNA.

1962-- Wilkins, Watson & Crick win Nobel Prize

slide30

NIRENBERG & KHORANA

1960-1966-- protein synthesis described

They decipher the genetic code that all living cells use to translate the series of bases in their DNA into instructions for the production of proteins.

slide31

SMITH, NATHANS & ARBER

1970 -- Hamilton Smith discovers the first restriction enzyme that cuts DNA at specific sites. Daniel Nathans & Werner Arber use restriction enzymes to generate the first physical map of a chromosome.

slide32

BERG, GILBERT, MAXAM

& SANGER

1977 -- working separately, each develop techniques for rapidly ‘spelling out”

long sections of

DNA by determining the sequence of bases.

slide33

Chimp 48

Orangutan 48

Gorilla 48

Gibbons 44

Siamang 50

Colobus 44

Green Monkey 60

Baboon 42

Owl Monkey 54

Squirrel Monkey 44

Ringtailed Lemur 56

Black Lemur 44

slide34

CHROMOSOME 1

Cataracts

Glaucoma

Hereditary deafness

Retinitis pigmentosa

Schizophrenia

Migrane

Prostate cancer

Acute Leukemia

Brain camcer

Muscular dystrophy

Colon cancer

Alzheimer’s disease

Fish odor syndrome

slide35

CHROMOSOME 2

Colon cancer

Obesity

Liver cancer

Diabetes mellitus

Cleft palate

Cataracts

Epilepsy

Parkinson’s disease

Muscular dystrophy

Pseudohermaphroditism

Ovarian cancer

Micropenis

slide36

CHROMOSOME 4

Huntington’s disease

Night blindness

Phenylketonuria

Parkinson’s disease

Alcoholism

Red hair

Mast cell leukemia

Achondroplasia

Dopamine receptor

Retinitis pigmentosa

Hip dysplasia

slide39

XO

1/2500 live births