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BIOLOGY MR2
memorization for biology review 2
| Term | Definition |
|---|---|
| germline mutations | Mutations that can be passed onto offspring due to their position in germ cells, which give rise to gametes. |
| somatic mutations | mutations that cannot be passed onto offspring due to their position in non-germ cells. |
| germ cells | cells which become gametes |
| somatic cells | cells which do not become gametes |
| dimer | A chemical compound made up of monomer subunits that are structurally similar |
| mutagen | any compound that can cause mutations |
| intercalating | action of inserting between DNA base-pairs due to similar structure to pyrimidines and purines |
| TRUE OR FALSE mutagens are non-naturally occurring in the body. they must be introduced from the external environment | FALSE |
| transition point mutation | substitution of a single base pair with a similar structured base pair Ex. pyrimidine for pyrimidine |
| insertion/deletion mutation | insertion or deletion of base pair(s) |
| three possible outcomes of point mutations | missense, nonsense, silent |
| transversion point mutation | substitution of a single pair with a differently structured base pair Ex. pyrimidine for purine |
| three possible outcomes of insertion/deletion mutations | frameshift, extra/missing amino acid(s), chromosome amplification |
| inversion mutation | reversal of sequence of base pairs |
| translocation mutation | two non-homologous chromosomes switch segments in either balanced (does not change genetic information) or un-balanced (changes genetic information) |
| when two transposons are positioned on a chromosome with genetic information between, they will loop the genes so that the transposons are ________ to each other, leading to deletion of the genetic information and one transposon. | parallel |
| a locus becomes hemizygous when a ____ __ ______________ occurs due to a deletion mutation. | loss of heterozygosity |
| three actions leading to genetic mutations which can be caused by a transposon | inversion, deletion, rearrangement |
| hemizygosity | haploid expression in a diploid organism |
| gain-of-function and loss-of-function mutations | change in level of gene expression |
| haploinsufficiency | single normal copy of gene in diploid organism is functional when both are necessary to function properly |
| inborn errors of metabolism | group of metabolic disorders caused by mutations on single genes that code for metabolic enzymes |
| oncogene | gene that casues cancer if mutated or expressed at high levels |
| tumor suppressor | gene that causes cancer when deleted or expressed at low levels |
| homology-dependent repair pathways | repair pathways that rely on the complementary undamaged strand of DNA |
| excision repair | replacement of defective base pairs and nucleotides before DNA replication |
| post-replication repair (mismatch repair pathway) | replacement of incorrect base pairs on daughter strand to restore complementary trait. daughter strand is recognized by lack of methylation (bacteria) or presence of okazaki fragments (eukaryotes, some prokaryotes) |
| double strand break repair | reattachment and fusion of chromosomes, can cause translocation or deletions if done incorrectly |
| double strand break repair-- homologous recombination | sister chromatid with DSB is cut and recombined using a complementary sister chromatid and joint molecule |
| double strand break repair-- non-homologous end joining | broken ends are stabilized and reconnected with DNA ligase. more common in eukaryotes, often results in deletion or abnormal chromosomal connection |
| coding RNA (mRNA) | RNA used to carry genetic information to the ribosome for translation |
| non-coding RNA (ncRNA) | functional RNA not used in translation |
| transfer RNA (tRNA) | translated genetic code by carrying amino acids from cytoplasm to ribosome for polymerization |
| ribosomal RNA (rRNA) | major component of ribosome. 4 types: 18S, 5.8S, 28S, 5S |
| ribozyme | catalytic RNA (as opposed to the normal polypeptide enzymes) |
| driving force of template-driven polymerization (mechanism of transcription and DNA replication) | removal and hydrolysis of pyrophosphate form added nucleotides, using existing chain of nucleotides as nucleophile |
| what does DNA polymerase have that RNA polymerase does not which leads to a higher mutation rate in transcription? | exonuclease activity (error correction) |
| promoter region versus start site in transcription | promoter region activates RNA polymerase, start site is where transcription begins |
| non-coding strand, transcribed strand, antisense strand, template strand are all terms for the strand _____________ to the RNA transcript | complementary |
| coding strand, sense strand are terms for the strand _________ to the RNA transcript | identical |