Transcript LECTURE OUTLINE Cell Structure & Function DNA Replication

LECTURE OUTLINE
Cell Structure & Function
DNA Replication
Protein Synthesis
Mutations
Simple Inheritance
Genetic Disorders
SIZE COMPARISONS
MUTATIONS
PHOSPHOLIPID
MEMBRANE
Compartmentalization
Protection
Cell recognition
Entry/exit
Fluid mosaic
NUCLEUS
Stores genes on chromosomes
Produce ribosomes
Transport regulatory factors & gene products
MITOCHONDRIA
Energy from glucose
Produce ATP
Have their own DNA
Eukaryotes
“Powerhouse”
Tissue types
RIBOSOME
Free-floating in cytoplasm
Bound to membranes
Protein synthesis
Translate mRNA
Two subunits
Larger in eukaryotes
Ribosome - ER - golgi
Thousands per cell
GREGOR MENDEL
Network of channels
Communication
Ribosome-studded
Protein transport
ENDOPLASMIC RETICULUM
SMOOTH ENDOPLASMIC
RETICULUM
No ribosomes
Lipid transport
Large surface area
Enzyme attachment
GOLGI APPARATUS
Polar ends
Flattened sacs
Vesicles
ER
Packaging center
Proteins
Cells w/secretory role
CENTRIOLE
Right angle cylinders
Microtubules
Spindle fibers
Cell division
Tongue Roll
Attached Earlobe
Tongue Flip
Unattached Earlobe
Tongue Fold
Hitchhiker’s Thumb
Ear Diagram
Ear Wax
Bent Pinky
Hand Fold
Dimples
Mid-digital hair
PTC Tasting
Bent Little
Finger
Widow’s Peak
Short Hallux
Finger
Length
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
female
marriage
proband
consanguineous
marriage
diseased
male
Dizygotic twins
Affected
individuals
Extra-marital
mating
progeny
carrier
?
Unknown
phenotype
identical
Female carrier of
an x-linked trait
Stillborn
or abortion
(monozygotic)
twins
PEDIGREE
GENERATIONS
Generations are numbered w/Roman
numerals. Within each generation,
individuals are numbered from oldest to
youngest.
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.)
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.
More affected males
than females.
Affected grandfather to grandson thru carrier
female.
SEX-LINKED
RECESSIVE TRAITS
Females do not
manifest the
disorder.
Examples of sex-linked
recessive traits:
COLOR BLINDNESS
Examples of sex-linked
recessive traits:
COLOR
BLINDNESS
DOMINANT DISEASE
Huntington’s Disease
• Woody Guthrie
• Arlo Guthrie
• Children
Lobster Foot
Dominant allele -- you have the disease or you don’t
RECESSIVE
DISEASE
• Albinism
• Achondroplasia
• Both parents can be
carriers to have an
affected child
• 2 affected parents will
usually produce an
affected
• Dominant doesn’t necessarily
meanchild
commonplace
AVERY, MACLEOD, MCCARTY
1944 -- First experimental evidence that
DNA transmits genetic information.
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
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.
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.
BERG, GILBERT, MAXAM
& SANGER
1977 -- working separately, each
develop techniques for rapidly
‘spelling out”
long sections of
DNA by determining
the sequence of
bases.
Chimp
Orangutan
Gorilla
48
48
48
Gibbons
Siamang
44
50
Colobus
Green Monkey
Baboon
Owl Monkey
Squirrel Monkey
44
60
42
54
44
Ringtailed Lemur
Black Lemur
56
44
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
CHROMOSOME 2
Colon cancer
Obesity
Liver cancer
Diabetes mellitus
Cleft palate
Cataracts
Epilepsy
Parkinson’s disease
Muscular dystrophy
Pseudohermaphroditism
Ovarian cancer
Micropenis
CHROMOSOME 4
Huntington’s disease
Night blindness
Phenylketonuria
Parkinson’s disease
Alcoholism
Red hair
Mast cell leukemia
Achondroplasia
Dopamine receptor
Retinitis pigmentosa
Hip dysplasia
XO
1/2500 live births