LECTURE OUTLINE Cell Structure & Function DNA Replication Protein Synthesis Mutations Simple Inheritance Genetic Disorders

SIZE COMPARISONS

MUTATIONS

PHOSPHOLIPID MEMBRANE Protection Entry/exit Cell recognition Compartmentalization 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

ENDOPLASMIC RETICULUM Network of channels Communication Ribosome-studded Protein transport

SMOOTH ENDOPLASMIC RETICULUM No ribosomes Lipid transport Large surface area Enzyme attachment

GOLGI APPARATUS Packaging center Proteins Cells w/secretory role Polar ends Flattened sacs Vesicles ER

CENTRIOLE Right angle cylinders Microtubules Spindle fibers Cell division

Attached Earlobe Unattached Earlobe Tongue RollTongue FlipTongue Fold Hitchhiker’s Thumb Ear Wax Ear Diagram

Hand Fold Bent Pinky PTC Tasting Widow’s Peak Dimples Mid-digital hair Bent Little Finger 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

carrier ? ? Unknown phenotype female maleAffected individuals consanguineous marriage Female carrier of an x-linked trait marriage Extra-marital mating proband diseased progeny Stillborn or abortion identical (monozygotic) twins Dizygotic twins

PEDIGREE

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

Direct transmission from an affected parent to an affected child. Transmission can occur from affected father to affected son. Approximately a 1:1 ratio of affected vs. unaffected progeny with one affected parent. AUTOSOMAL DOMINANT INHERITANCE (Affected children always have an affected parent.)

Affected individuals can be either male or female. However, affected children typically do not have affected parents. Affected parents can have affected offspring. AUTOSOMAL RECESSIVE INHERITANCE

SEX-LINKED RECESSIVE TRAITS More affected males than females. Affected grand- father to grand- son thru carrier female. Females do not manifest the disorder.

Examples of sex-linked recessive traits: COLOR BLINDNESS

Examples of sex-linked recessive traits: COLOR BLINDNESS

Huntington’s Disease Woody Guthrie Arlo Guthrie Children DOMINANT DISEASE Dominant allele -- you have the disease or you don’t Lobster Foot

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

First experimental evidence that DNA transmits genetic information. AVERY, MACLEOD, MCCARTY

Using an x-ray pattern of DNA generated by Rosalind Franklin, Maurice Wilkins, James Watson and Francis Crick publish their double-helix model DNA Wilkins, Watson & Crick win Nobel Prize FRANKLIN, WATSON, CRICK, WILKINS

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. NIRENBERG & KHORANA

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. SMITH, NATHANS & ARBER

working separately, each develop techniques for rapidly ‘spelling out” long sections of DNA by determining the sequence of bases. BERG, GILBERT, MAXAM & SANGER

Chimp48 Orangutan48 Gorilla48 Gibbons44 Siamang50 Colobus44 Green Monkey60 Baboon42 Owl Monkey54 Squirrel Monkey44 Ringtailed Lemur56 Black Lemur44

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 1

Colon cancer Obesity Liver cancer Diabetes mellitus Cleft palate Cataracts Epilepsy Parkinson’s disease Muscular dystrophy Pseudohermaphroditism Ovarian cancer Micropenis CHROMOSOME 2

Huntington’s disease Night blindness Phenylketonuria Parkinson’s disease Alcoholism Red hair Mast cell leukemia Achondroplasia Dopamine receptor Retinitis pigmentosa Hip dysplasia CHROMOSOME 4

XO 1/2500 live births