Biology 3594A Study Guide - Final Guide: Somatic Hypermutation, Chromosome, Convergent Evolution
13 May 2018
School
Department
Course
Professor
Lecture 16 Flashcards
Front (Term)
Back (Definition)
Define hypermutation
.
Define Ultrahypermutation
.
Whatdifferences in hypermutation and
ultrahypermutation wereobserved
between cancers in children and adults
(2)?
.
Definemutationburden or mutationload
(2).
Mutationburden or load are used interchnageablely
Definition:2 parts: load/burden and mutation
- Mutation:changes in linear DNA sequence, heritable
- Burden/load:aggregate number, collecting all mutations.
Studying it in the context ofcancer and coming at it from a
negative perspective, causing a deleteriousphenotype
Provideseven specific examples of the
power of NGStechnology in the analysis
of mutations. (7)
Powerfultechnology because of its coverage: covers entire
genome, not restricted to aspecific chromosome or probes
on an array
Canuse it on living organisms
•Defiethe tes dieutatio ad
passenger mutation. (2)
Driver (or more than one) dictates pheotpe that ou’e
seeing
- e.x. rapid cell growth. That mutation hasled to the
phenotype.
- If you can design a drug against a phenotype you couldstop
the phenotype
Passengersmight be contributing to phenotype somewhat,
might be silent, do not appear tohave major influence on
phenotype of the cell
- Wheou’e teatig a ae ad lok a die, a
passege a get ito thedie’s seat, iease its ifluee
on the cells
- Withremission or a bad turn in a cancer, we start thinking
about all the passengersand trying to treat those, figure out
which passenger is now expressed in thecell
Verydynamic process between driver and passenger
find more resources at oneclass.com
find more resources at oneclass.com
Definethe term clastogenicand name
one clastogenic agent. (2)
Clastogenic agents: 17 beta estradiol,
acetaldehyde,cyclophosphamide
- Canbe external or internal, exogenous or endogenous
- CleaveDNA and create ss ords breaks, chromosomal
fragments
•Whatdoes MSI-Hrefer to? (2)
MSI-H-microsatellite instability
- Micro= small size (Repeats of either 2-4ish nucleotides)
- Satellite= repetitive DNA collected by centrifugation
- Instability= they expand and contract
- H =high amount of expansion and contraction, canbe
characteristic of certain cancers
•Naefou ko utages, the
cancers they are associated with and the
basesubstitution signature associated
with that mutagen. (12)
Tobacco smoke - Lung cancer (Cluster 4) - Signature 4
Alkylating-associated mutations - Brain cancer (Cluster 5) -
Signature 11 (TMZ)
UV light - Skin cancer (Cluster 6) - Signature 7
APOBEC DNA editing enzyme mutations - Breast cancer
(Cluster 7) - Signature 2, 13
•Whatdo die utatios i POLD ad
POLE do? (1)
•Hodo the otiute to
hypermutation? (1)
.
•Whatis the futio of the poduts of
the genes POLD1 and POLE? (2)
POLD1 and POLEtackling diff DNA strands
•Giethee eaples eah of itisi
and extrinsic sources for hypermutation.
(6)
APOBECis intrinsic, editing DNA in bad way, hyperediting and
causing mutations.
Extrinsic:chemotherapy agent: tobacco smoke, UV light –
both leading to hypermutation
•Whatis the eidee that die
mutations are more than codon
specific? (1)
Particularchange in amino acid was bad, not amino acid itself
that was important
- Did’tlose aio aid, it’s the e aio aid thee that
drives the cancer
- Oneparticular codon is really bad even though a
synonymous mutation
find more resources at oneclass.com
find more resources at oneclass.com
Document Summary
Provideseven specific examples of the power of ngstechnology in the analysis of mutations. (7: defi(cid:374)ethe te(cid:396)(cid:373)s d(cid:396)i(cid:448)e(cid:396)(cid:373)utatio(cid:374) a(cid:374)d passenger mutation. (2) Studying it in the context ofcancer and coming at it from a negative perspective, causing a deleteriousphenotype. Powerfultechnology because of its coverage: covers entire genome, not restricted to aspecific chromosome or probes on an array. Driver (or more than one) dictates phe(cid:374)ot(cid:455)pe that (cid:455)ou"(cid:396)e seeing. If you can design a drug against a phenotype you couldstop the phenotype. Passengersmight be contributing to phenotype somewhat, might be silent, do not appear tohave major influence on phenotype of the cell. Whe(cid:374)(cid:455)ou"(cid:396)e t(cid:396)eati(cid:374)g a (cid:272)a(cid:374)(cid:272)e(cid:396) a(cid:374)d (cid:271)lo(cid:272)k a d(cid:396)i(cid:448)e(cid:396), a passe(cid:374)ge(cid:396) (cid:272)a(cid:374) get i(cid:374)to thed(cid:396)i(cid:448)e(cid:396)"s seat, i(cid:374)(cid:272)(cid:396)ease its i(cid:374)flue(cid:374)(cid:272)e on the cells. Withremission or a bad turn in a cancer, we start thinking about all the passengersand trying to treat those, figure out which passenger is now expressed in thecell. Cleavedna and create ss ords breaks, chromosomal fragments.
