Nature vs Nurture Exam 2

Angelmann Syndrome

Marked by intellectual and developmental delay, seizures, jerky movement, and a frequent happy demeanor

Prader-Willi Syndrome

An intellectual and developmental delay, causes obesity 

Angelmann Syndrome

Individuals are missing gene that normally comes from Mom- Happens when mom’s copy is defective or missing, or when there are two paternal copies

Prader-Willi Syndrome

Individuals are missing gene that normally comes from Dad- Happens when dad’s copy is defective or missing, or when there are two maternal copies

Chromosomes > Genes > DNA > Nucleotides

Chain of how a gene is expressed

Codons

Base pairs that are organized in triplets

Transcription

Copies the DNA sequence comprising a gene into an RNA molecule that is complementary to DNA

Transcription factors

Attaches to the binding protein which finds the promoter section

RNA polymerase

Presence of necessary transcription factors allow RNA polymerase to begin making RNA

Translation

Uses information copied into RNA to manufacture a specific protein by aligning and joining certain amino acids

Alternative Splicing

A regulated cellular process during gene expression where exons from same pre-mRNA are joined together in different combinations, allowing a single gene to code for multiple distinct proteins

If DNA is the same in every cell, how could you have cells with specialized functions?

The same embryonic cell becomes two different cells with different functions through differentiation. Ex: A neuron can also be a liver cell depending on epigenetic mechanisms (interaction between gene and environment), and it is then encoded in a pattern of gene expression

Small inhibitory or interference RNA, micro RNAs, Piwi-associated piRNAs, pseudogenes, telomeres

Examples of introns (‘junk DNA’)

Schizophrenia, autism, Alzheimer’s Disease

Diseases that introns (junk DNA) effects

ENCODE

International collaboration of research groups funded by the National Human Genome Research Institute (NHGRI)

A gene

DNA segments that contain information used to construct proteins

Linkage designs, association designs, quantitative trait loci studies, transgenic/knockout animal models

Research strategies used to identify genes that underlie phenotypes

Linkage Studies

Studies that ask whether there is systematic co-inheritance between a gene locus and a trait being studied

Haplotype

A physical combination of DNA variants, alleles, or gene markers along a single chromosome that tend to be inherited together as a unit from one parent 

Associate Design

 Studies that determine whether individuals with a particular trait/disorder are more likely than appropriately chosen controls to have some particular genetic allele

Quantitative Trait Loci

The genes or DNA region influencing a quantitative trait

Knockout mice

Genetically modified mice that have one or more genes silenced

APP and presenilin

Genes associated with Early Onset Alzheimers

ApoE4 and Tau

Genes associated with Late Onset Alzheimers

NRG1, DISC1, dysbindin, COMT, RLN

Genes associated with schizophrenia

Genes associated with autism

MECP2, CHD8, UBE3A, SHANK3, SYNGAP1

Genes associated with depression

FKBP5, BDNF, 5HTT

Genes associated with substance misuse disorder

ALDH-2, DRD2, CYP2A6

Genes associated with PTSD

DRD2, DRD4, DAT1, 5HTT, FKBP5, NPY, BDNF

Genes associated with personality features

DRD4, 5HTT

Genes associated with ADHD

DRD4, DAT1

Genes associated with social bonding

Vasopressin receptor, oxytocin

Pharmacogenetics

Individuals vary in response to drugs due to genes that are involved with metabolism of drugs or drug targets

Endophenotypes

Quantifiable components in the genes to behavior pathway which makes genetic and biological studies of etiologies for disease categories more manageable

Research question for PTSD WTC study

Whether people exposed to the same major trauma who developed PTSD showed different gene-expression patterns, particularly in genes related to glucocorticoid signaling, compared with exposed people without PTSD. 

Independent variable for PTSD WTC study

Whether or not they have PTSD after witnessing the World Trade Center attacks

Dependent variable for PTSD WTC study

The presence of the FKBP5 gene and whether it contributes to glucocorticoid receptors

Conclusion of PTSD WTC study

“Several genes involved in glucocorticoid signaling are differentially expressed among those with current PTSD (consistent with observations of HPA axis dysfunction)” 

Hypothesis of gene response in brain to social stress experiment

Defeat induces increase in the activity of OT neurons in females and OT activity may contribute to increased stress-induced changes of social behavior in females