control of gene expression Flashcards
what is a point mutation
the change of 1 base as it occurs at only 1 point in the sequence
what are the 3 types of substitution mutation
- nonsense
- mis-sense
- silent
what is a nonsense mutation
an amino acid codon mutates to become a stop codon, stopping protein synthesis (translation)
what is a mis-sense mutation
an amino acid sequence changes, possibly changing the structure and function of the protein
what is a silent mutation
the genetic code is degenerate so a mutation doesnt always change the AA sequence
what is an inversion mutation
a group of bases separates from dna sequence and rejoins at the same position but in inverse order. the base sequence is reversed and affects the resulting AA sequence
what is a duplication mutation
can be just 1 base duplicated (has the same effect as an addition). causes a frame shift to the right. if 3 bases are duplicated, a new AA is added
what is a translocation mutation
a base group separates from a dna sequence on 1 chromosome and becomes inserted into the dna sequence of a different chromosome. the mutations often have significant effects on gene expression, leading to an abnormal phenotype
examples of mutagens
- high energy radiation (uv radiation and x-rays)
- carcinogens in cigarettes and car exhaust fumes
- alcohol
effect of mutations in somatic cells (non-reproductive body cells)
it will only affect cells that derive from that cell, so will likely have a small local effect like a birthmark
effect of mutations in germ-line cells (reproductive cells/gametes)
they will affect every single cell of the resulting organism as well as its offspring. these mutations are one source of genetic variation
what are stem cells
undifferentiated cells that can divide by mitosis to form more stem cells (keep dividing and make more cells) OR cells that can differentiate into a specific cell type
why do different cells make different proteins
different genes are expressed/transcribed and then translated/switched on. some genes are switched on in all cells e/g those involved in respiration while some are switched on/off as required
how can gene expression be controlled
- prevention of transcription so prevention of mRNA production
- prevention of translation
key features of stem cells
- potency - have the potential to differentiate into specialised cell types
- immortality - they can divide indefinitely