Biology 3594A Study Guide - Final Guide: Matpat, Gametogenesis, Spermatogenesis
13 May 2018
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Lecture 13 Flashcards
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Back (Definition)
Evidence important to
supporting a mutator
phenotype phenomenon and
discovering mechanism (3)
The CNVs are:
1. toonumerous to bespontaneous
2. acrossthe genome landscape- global
3. notrestricted to a single chromosome – not local
Results relevant to elucidating
the mechanism for MdnCNV
Primarilygains;tandem duplications
- fits MMBIR/FoSTeSmechanisms[generate gains; tandem duplications]
combined with selectionresulting in more gains than losses
Why there are more gains
than losses
CNV losses would more likely be subject to purifying selection
- losses are more detrimental than gains which is why we might see
more gains
- selective pressure: not fit to have copy number state of 0
Chromosomal consequences
of template switches during
MMBIR
When switch is to:
1. Sister or homologue behind
position of fork breakage
2. Sister or homologue ahead
of position of fork breakage
3. Sister or homologue in
wrong orientation
4. Nonhomologous sequence
5. Sequence already
duplicated
6. On same molecule behind
the break
1. Duplication
2. Deletion
3. Inversion
4. Translocation
5. Triplication
6. Rolling circle
What constitutive CNVs imply
about the timing for CNV
events
Implicate early developmental or germline origin of CNVs
Also stops early in development
- later-occurring CNVs would be in certain and not all tissues
- transient occurrence of the mutator phenotype
What microhomeologies
indicate about the timing for
CNV events
Microhomeologies that are mat/mat and pat/pat implicate
gametogenesis
- mat/mat happened during making of egg
- pat/pat means didn't need a maternal copy, during spermatogenesis
Microhomeologies that are mat/pat and pat/mat implicate early
postzygotic cleavage stages
- perizygotic
find more resources at oneclass.com
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Document Summary
Evidence important to supporting a mutator phenotype phenomenon and discovering mechanism (3) Results relevant to elucidating the mechanism for mdncnv. When switch is to: sister or homologue behind position of fork breakage, sister or homologue ahead of position of fork breakage, sister or homologue in wrong orientation, nonhomologous sequence, sequence already duplicated, on same molecule behind the break. What constitutive cnvs imply about the timing for cnv events. The cnvs are: toonumerous to bespontaneous, acrossthe genome landscape- global, notrestricted to a single chromosome not local. Fits mmbir/fostesmechanisms[generate gains; tandem duplications] combined with selectionresulting in more gains than losses. Cnv losses would more likely be subject to purifying selection. Losses are more detrimental than gains which is why we might see more gains. Selective pressure: not fit to have copy number state of 0: duplication, deletion, inversion, translocation, triplication, rolling circle. Implicate early developmental or germline origin of cnvs. Later-occurring cnvs would be in certain and not all tissues.
