Genotype-genetic makeup of an organismPhenotype-set of observable characteristics of an organism resulting from the interaction of both its genotype and the environmentGenome-all of the DNA in the nucleus of each cell (protein coding genes, RNA genes, “dead” genes, gene regulating DNA, and even DNA without any known function)-the genome of any human is more likat that of another human than any other organism-complexity of organism not reflected in number of protein-coding genes-complexity based on how genes are regulated, not number of genesSNP-single nucleotide polymorphism-single base genetic differenceTranscriptomes-total individual sets of expressed genes (DNA that is copied into RNA)Exomes-individual sets of protein-coding genesEpigenetic-non-genetic factors that affect expression of our genes- modifications of DNA that are not encoded in DNA, but can be passed on during replication: imprinting!!Genomic imprinting-different patterns of gene expression from the paternal vs. maternal chromosomes. For small subset of genes, expressed only from the maternally OR paternally inherited chromosomes-McGrath and Solter 1984-genomic imprinting in mouse embryos-nuclear transplants to make embryos with two maternal nuclei or two paternal nuclei-bi-maternal mouse embryo-embryo develops, placenta does not-bi-paternal mouse embryo-placenta develops, embryo does not-one of each, both developed*some maternal genes are required for embryo development and some paternal genes are needed for placental development-both sets are required for successful mammalian development-methylation-presence of methyl groups usually silences genes-different methylation established during gametogenesis and results in differential slicing of genes inherited from mom and dad-methylated genes on paternally derived side will silence paternal genes and maternal gene will be expressed here-after replication methyl-directed enzymes methylate newly synthesized strands of DNA to regenerate old pattern-Parthenogenesis-asexual-development of an embryo from an unfertilized egg-impossible in mammals because of imprinted genes-would not develop placentaGenetic Information Nondiscrimation Act-prohibits denial of health insurance based on genetic infoPatient Protection and Affordable Care Act-prohibits denial of health insurance coverage based on pre-existing conditionsGene patents-illegal as of June 2013-Myriad Genetics BRCA1 BRCA2 patents-mutations here lead to increased risk of breast and ovarian cancer-patents gabe Myriad sole rights to genetic testing for BRCA mutations-kept costs high and limited availability to womenMitochondrial genome-cell organelles with own genome-passed only from mothers to their childrenCommensal-one organism benefits, one is unaffectedMutualistic-both organisms benefirSymbiotic-two different organisms living together-can be negative or positivePathogenic-capable of causing diseaseWhole genome association study-way to identify genes involved in complex trait or disease-seeks genetic markers present in people with the disease, but absent in people without the disease-SNPs identified in affected, and non-affected people are rarely 100%-not disease specific SNPs, but disease-associated-somenon-affected will carry markers associated with disease-used for: behavioral traits and disorders, cardiovascular diseases, neurological disorders, allergies, several cancers etc.-one whole genome association study found four genetic loci associated with all 5 diseases: autism, ADHD, bipolar disorder, major depressive disorder, and schizophrenia=shared genetic componentsConcordance-presence of same trait in both members of a pair of twins-ideal example is identical twinsBody weight destiny-Body mass relative to Body volumeGenetic DiseasesSingle Gene Diseases-Recessive mutation-autosomal: both copies of gene must have mutation (ieye color), if mutation is on X chromosome, males will have disease and females will be carries (unless on both X copies, then females too have the disease) (hemophilia) Daughter: 50% chance of being carrier, son 50% of having disease-Dominant mutation-one mutation=disease-normally if person has mutation on both chromosomes the mutation is lethal (Huntington’s), if mutation is on X chromosomes, normally lethal to males and females will express disease (Rett Syndrome)-disease caused by mutation on imprinted genes depends which parent the mutation was inherited from-disease with complex genetics-many genes involved in susceptibility as well as non-genetic factors (Schizophrenia, obesity, cardiovascular disease)-identical twin: 50% chance, both parents with disease: 27% chance, sibling with disease: 10% chanceGenetics and Behavior-Lesch-Nyhan Disease-lesion in single gene causes compulsive self harm-genetic makeup makes it impossible to refrain from sef-harm-x-linked recessive-boys are almost always affected and mothers are carriers-only 6 known female cases-X carrying mutated gene was expressed in every cell even though there was a good X available-physical behavior example-all gaited horses (horse that can set pace) share a lost function mutation in DMRT-3 gene-hopping mice with Ephrin-B3KO mutation can only move limb pairs in mirrored movements-cognitive behavior example-people with mutations in FOXP2 gene have problems with physical mechanics of speech and cognitive aspects of language-autosomal dominant-example of human specialized gene-top 5% most conserved genes in mammals-emotional behavior/personality example-20-25% of people carry gene variants associated with depression and antisocial behaviorOrchids vs. Dandelions-Dandelions-individuals likely to be able to cope in ANY environment-Orchids-individuals more sensitive to environment (carry gene variants associated with adverse traits), with right environment will do very well, in harsh environment will express dark side of personality trait-genetic makeup is not predestined-environmental intervention and nurturing can have affectSmoking& Body Weight-smoking initiation: 60% genetic 40% environment, nicotine dependence: 70% genetic 30% environment-carcinogens in smoke affect genes that control cell growth-somatic mutation leads to oncogenesis-nicotine addiction-nicotine changes expression of genes involved in cell signaling pathways, neurotransmitters, and neurotransmitter receptors, and changes the neural circuits in parts of your brain which changes behavior=dependence-2008 study linked region of chromosome 15 containg Nicotine