L5: developmental genetics

what are the characteristics of gene nomenclature (species, gene, protein names)

species name and gene name always in italics,

gene + protein names can be fully capitalised, fully lowercase, or a combination

what causes mutations (with examples)

radiation (UV light, X-rays, radioactivity)

chemical (base analogues, base modifiers, intercalating agents)

what is the difference between germline and somatic mutations

germline: inherited

somatic: in body, cant be passed on

what is mutagenesis

causing high levels of mutations in model organisms

what is CRISPR and what is its advantage

technology used to knock-out or knock- in genes, works in any organism

what are the 3 ways mutations affect genes

changes in regulatory sequence- affects transcription

changes in non-coding sequence- affect splicing, stability, translation

changes in coding sequence- alter aa to affect protein folding

what are missense and nonsense mutations

missense: single aa substituted

nonsense: stop codon

what is a domain

functional unit in a protein

what is a dimer

two of the same protein bound together

what is a conformational change

change in protein structure

what are the 4 types of mutations that affect protein function (Mullers Morph’s) and if theyre recessive or dominant

amorphic (non-functioning)- recessive

hypomorphic (weakened)- recessive

antimorphic (dominant negative- only active when two WT proteins interact)- dominant

hypermorphic (overactive)- dominant

what are alleles

mutations in the same gene

how is a GFP transgenic line generated

take DNA with all of the regulatory elements and wither genetically engineer GFP onto the end of the last exon (gene fusion) or replace the gene (reporter construct)

then reintroduce into the animal

what are the 2 uses of GFP transgenic lines

to follow expression of a gene or follow the behaviour of cells in vivo

to follow subcellular localisation of a protein