Mod 8-10 Flashcards
whole set of genes of individuals
genome
modification of ________ leads to changes in gene expression and may alter individul traits or phenotype
base sequences
alterations that do not involve changes in an individual’s base sequence but still effect gene expression
epigenome
“epi” in epigenome means
above
________________ can detect the turning on and off of genes
epigenetic marks
changes in the regulation of gene activity and differential expression of genes including differences in the pattern and timing of genetic switches are considered
epigenetic
the term “epigenetics” was coined by ________________
Conrad Waddington
epigenetics follows <blank> which proposed that the early embryo was undifferentiated</blank>
theory of “epigenesis”
the branch of biology which studies the causal interactions between genes and their products which brings the phenotype into being
epigenetics (Waddington)
the study of mechanism of temporal and spatial control of gene activity during the development of complex organism
epigenetics (Holliday)
study of changes in gene expression that occur not only by changing DNA sequence but by modifying DNA methylation and remodeling chromatin
Epigenetics [Holliday (?)]
Mitotically and/or meiotically heritable changes that could not be explained by DNA base sequence changes
Epigenetic changes (Wu and Morris)
TRUE OR FALSE: Most cells in a multicellular organism like man, have an identical genome, however, these cells do not become differentiated and commit to specific functions
FALSE: they become differentiated
includes stable and long-term alteration in the transcriptional potential of a cell that MAY NOT necessarily be heritable
epigenetics
affects the ACCESSIBILITY of the genome at the right place and at the right time
Epigenetic mechanisms
determine which genes will be turned off or on. It also regulates the degree of expression at a particular time given a particular environmental condition
Epigenetic factors
<blank> is stable and reveals our inherited genetic identity.
</blank>
DNA Structure
TRUE or FALSE: There is an interplay between our genome and the environment and signals from the environment that can lead to such epigenetic marks effecting the differential switching of genes even among twins
True
<blank> attached to DNA and epigenetic factors in histone tails activate or repress genes
</blank>
Methyl groups
attachment of methyl groups (in cytosine) by the DNA transferase machinery to bases of the DNA which significantly influences GENE EXPRESSION and CELL FUNCTION
DNA Methylation
causes a blockage for binding of transcription factors, silencing or inactivation of genes
Methyl groups or moities
<blank> is an INTERFACE between the dynamic environment and the static genome
</blank>
DNA Methylation (Szyf)
Methyl is added by <blank> in methyl transferase in the Cytosine of 5' - CG - 3' dinucleotides</blank>
methyl transferase
TRUE or FALSE: High frequency of METHYLATED CpG islands within or in the vicinity of a gene’s promoter region REDUCES transcriptional activity of that gene
TRUE
<blank> accounts for the very specific patter of activating and silencing genes in every cell
</blank>
Methylation
<blank> genes are less methylated (also evident pattern in EARLIEST ZYGOTIC STAGES)
</blank>
Active
<blank? genes are inactivated (also evident pattern in EARLIEST ZYGOTIC STAGES)
hypermethylated
TRUE OR FALSE: Methylation may not be inherited per se
TRUE
TRUE or FALSE: Patterns are generated during gestation in accord with the signals from the environment
TRUE
TRUE or FALSE: Mistakes in methylation do not cause the same effect as a mutated gene
FALSE: causes the same effect
expression of <blank> depends on the ORIGIN OF INHERITANCE whether derived maternally or paternally.</blank>
Imprinted genes
TRUE or FALSE: There are cases when only maternal alleles of the imprinted genes are transcribed and the paternal alleles are silenced (VICE VERSA)
TRUE
TRUE or FALSE Epigenetic modifications cannot be passed across generations
FALSE: may be passed (Kaati, Bygren, and Edvinsson)
There is a “memory” of environmental influence on the genome
WHICH MECHANISM
Genetically identical mice may have different phenotypes (Agouti viable yellow gene causing yellow fur color, tendency to become obese, develop tumors)
The methylated agouti gene has a brown fur color and is healthy
DNA Methylation
Heavy methylation suppresses the expression of trait as observed in identical twin mice
TRUE or FALSE: Maternal diet can be affected by the environment
TRUE
TRUE or FALSE: Epigenetic factors other than foods, drugs, and environmental chemicals cannot change a developing organism’s expression
FALSE
“Superman” gene
Arabidopsis thaliana (Jacobsen & Meyerowitz)
(DNA Methylation)
Floral development is regulated by <blank></blank>
homeotic genes
(DNA Methylation)
encodes for a transcription factor that affects one of these homeotic genes
“Superman” gene
(DNA Methylation)
(2)
It controls the boundary between reproductive and accessory plant structures specifically <blank> to develop into carpels</blank>
“Superman” gene
fourth whorl of A. thaliana flowers
(DNA Methylation)
<blank> in the superman gene, just after the promoter region, causes variation in the formation of STAMEN and the CARPEL
</blank>
Cytosine methylation
(DNA Methylation)
‘superman’ gene bring about the <blank> and restricts the effect of another gene (APETALA 3)</blank>
clk allele (‘Clark Kent’ gene)
(DNA Methylation)
endemic to Mendoza province, Argentina
S. ruiz-lealii (shows recurrent flower malformations in its inflorescence within the same plant)
hypermethylation in S. ruiz-lealii
(DNA Methylation)
DNA associates with <blank> of histones</blank>
Octamer
<blank> modification can either support or suppress genes
</blank>
Histone
The tighter the association of histone tails to the DNA, the <blank></blank>
less accessible the DNA is for DNA PROCESSING and TRANSCRIPTION (or gene is silenced)
(HISTONE MODIFICATION)
Addition of methyl groups to histone tail =
restriction (tighter wound)
(HISTONE MODIFICATION)
TRUE or FALSE: Transcription factors can readily bind to genome promoters
FALSE: cannot
(HISTONE MODIFICATION)
Acetylation of histones
relaxes and unravels compact DNA (genes are more available as chromatin is more exposed and accessible to DNA binding proteins)
(HISTONE MODIFICATION)
combination of signals (causing methylate/demethylate, acetylate/deacetylate) =
lead towards modification of histones
(HISTONE MODIFICATION)
TRUE or FALSE: The area within nucleus where the modifications reside could convey information
TRUE
(HISTONE MODIFICATION)
TRUE or FALSE: Methylated DNA and acetylated histones are found in same components or territories in the nucleus
FALSE: different*
(HISTONE MODIFICATION)
TRUE or FALSE: Methylated DNA is associated with acetylated histones (vice versa)
FALSE: Methylated DNA recruits proteins that cause deacetylation of histones, resulting to shutdown of gene
(HISTONE MODIFICATION)
Third mechanism of epigenetic change which can silence a gene is <blank></blank>
RNA interference (RNAi)
RNA interference discoverers
Andrew Z. FIRE & Craig C. MELLO
can regulate the stability of mRNA and can be used to silence the expression of TARGET GENES
Short (21-25bp in length), double-stranded non-coding RNA (dsRNA)
or small interfering RNA
used for RNAi. Both pairs with specific target mRNA, causing inhibition of translation or degradation of mRNA
short, single stranded RNAs or microRNA (miRNA)
and short interfering RNAs (siRNA)
<blank> is involved in signaling, cell differentiation, and timing of cell development as well as programmed cell death (apoptosis)
</blank>
miRNA (microRNAs)
<blank> can directly base pair
mRNA degradation instead of inhibition
</blank>
siRNA (short interfering RNA)
<blank> recognizes and cuts dsRNA into siRNA and miRNA
</blank>
dicer
<blank> binds and unwinds the double-stranded siRNA or miRNA, producing single stranded siRNA or miRNA
</blank>
RNA-induced silencing complex (RISC)
TRUE or FALSE: Epigenomes can be affected by environmental factors such as diet, stress, and prenatal nutrition among others
TRUE
TRUE or FALSE: Diet and stress can influence the epigenome of an individual by changing epigenetic marks
TRUE (strong expression of genes for obesity)
TRUE or FALSE: Low folate food are recommended during pregnancy
FALSE: High. Folate is a strong METHYL DONOR which can prevent the developing embryo to have neural tube defects
Neural tube develops on which day of pregnancy
28th (Pregnant mothers are advised to take folic acid (vit B9 supplements for recommended 400g folate per day)
TRUE or FALSE: Epigenome is likely to be most vulnerable to environmental factors during embryogenesis because DNA synthetic rate is high, and the elaborate DNA methylation patterning for normal tissue development is established during this period
TRUE (Dolinoy, et al. 2006)
Study of molecular relationships between nutrition and response of genes
Nutritional genomics (nutrigenomics)
5 Tenets of Nutrigenomics
- Diet can be a serious risk factor
- Gene expression and structure of human genome can be (directly or indirectly) altered by chemicals in our diet
- Degree to which diet influences the balance between healthy and disease states may depend on the genetic make-up
- Diet-regulated genes are likely to play a role in the onset, incidence, progression, and/or severity of chronic diseases
- Dietary intervention based on knowledge of nutritional requirement, nutritional status, and genotype can be used to prevent, mitigate, or cure chronic diseases
Metabolic disorders that can be managed through diets
phenylketonurics, galactosemics, phenylalanine-free and milk-free diet, respectively
TRUE or FALSE: Nutrients cannot reverse or change epigenetic phenomena by DNA methylation and histone modification
FALSE: it can modify expression of critical genes
<blank> investigates the role of bioactive components such as tea polyphenols, genistein from soybean, and isothiocyanates from plant foods
</blank>
Nutritional epigenetics
<blank> can be utilized for intervention, including preventive therapy
</blank>
Nutriepigenomics
TRUE or FALSE: Epigenetic modifiers such as resveratrol, curcumin, and green tea hold promise for preventing cancer and treating metabolic disorders
TRUE
TRUE or FALSE: Food rich antioxidants are used to delay aging, may regulate cancer as they reduce DNA methylation in critical genes associated with the disease
TRUE
change in the genetic material that is HERITABLE and PERMANENT
Mutation
3 Types of Chromosomal Mutation
Euploidy
Aneuploidy
Structural changes involving one or more chromosomes
change involving WHOLE GENOME or THE ENTIRE SET of chromosomes
Euploidy (multiplication of one or more genome)
known as the basic chromosome number
Genome (X)
complete set of chromosomes or genes
Genome (X)
X=n
n = ???
n = haploid number
TRUE or FALSE: In polyploid, X is also equal to n
FALSE: X not equal to n
Types of Euploidy
Monoploid (X)
Polyploid (3X-6X)
One set of genome or whole set of chromosomes
Monoploid (X)
More than two sets of genome
Polyploid (3X-6X)
Types of Polyploid
Autopolyploid
Allopolyploid
Basic genome is identical
Autopolyploid
Basic genome is not identical
Allopolyploid
Types of segregation in autotetraploid
- Random chromosome type
- Random chromatid type
type of segregation where genes are close to the centromere
(to find the gametes assign alleles in a FIGURE)
Random chromosome type
(Autotetraploid)
type of segregation where genes are far from the centromere
(to find the gametes, use the GAMETIC SERIES)
Random chromatid type
(Autotetraploid)
Types of addition (Aneuploidy)
- Trisomic (2n +1), page 40 Module 9
- Double trisomic (2n +1 +1)
- Tetrasomic (2n+2)
Types of subtraction (Aneuploidy)
- monosomic (2n -1)
- double monosomic (2n -1 -1)
- nullisomic (2n-2)
Types of structural aberrations
- deletion
- duplication
- translocation
- inversion
missing chromosome segment
deletion
Types of deletion: interstitial (2), terminal
(structural aberrations)
repeated chromosome segment
duplication
Types: tandem, reverse tandem, displaced, transposition
(structural aberrations)
exchange of chromosome segments involving NON-HOMOLOGOUS chromosomes
translocation
(structural aberrations)
chromosome segment is inserted in a different order
inversion
(structural aberrations)
two chromosomes in homologous pair are affected
(structural aberrations)
Homozygous
only one of the chromosomes in the homologous pair is affected
structural hybrids
(structural aberrations)
Heterozygous
Types of inversion
(structural aberrations)
- Paracentric
- Pericentric
centromere is not included in the inverted segment
Paracentric
(structural aberrations)
centromere is included in the inverted segment
Pericentric
(structural aberrations)
what is formed for heterozygous for paracentric inversion
bridge
acentric fragment
what is formed for heterozygous for RECIPROCAL TRANSLOCATION
IV (quadrivalent) results to ring or chain
Adjacent 1
Adjacent 2
(segregation of ring and chain)
sterile gametes, with deletion and duplication
- alternate or zigzag
(segregation of ring and chain)
fertile gametes
no deletion and duplication
change A-T to C-G during replication (associated with DNA POL II
Treffers mutator gene
genes or mobile genetic elements
Transposons or jumping
can move and insert itself into gene
loss of gene function
Transposons or jumping
revertible mutants in corn
Noble prize winner 1983
35 years after publication
Barbara Mc Clintock
encodes a transposase
Ac
suppressor of color formation
Ds
TRUE or FALSE: Ds cannot move without AAc
True
TRUE or FALSE: Ac can’t transpose to location of gene C (color) anthocyanin
False
Ac-Ds stationary produces
purple kernel (no transposition occuring)
Ac-Ds transposed into C (Activate Ds transposition)
White kernel (colorless)
Activates Ds transposition out of C in a few cells during kernel development
Spotted kernels
change in a single nucleotide (or few adjacent nucleotides)
Gene mutation or Point mutation
Types of gene mutation
- Base pair substitution (a. transition, b. transversion)
- Frameshift mutation
Types of amino acid substitution
nonsense
same sense
missense
pu -> pu
py -> py
transition
pu <-> py
transversion
no effect on amino acid sequence
same sense
change in amino acid sequence
missense
formation of STOP codon
nonsense
Transient maternal influence causes
Delayed chromosomal inheritance
- Temporary maternal influence (F1)
- Differences in reciprocal crosses (influence of maternal cytoplasm)
- Delayed expected Mendelian segregation
Principle of segregation is disregarded
Delayed chromosomal inheritance
Outside the nucleus
Extranuclear
cytoplasm is donated by the
mother
- Cytoplasmic factors
- capable of self perpetuation
- independent transmissions
Extranuclear inheritance
cytoplasmic factors are called
plasmagenes
plasmons
plasmids
cytogens
account for hybrid vigor
Epistasis
(genetic basis of heterosis)
accumulation of favorable dominant genes in the hybrid
Dominance (Davenport)
(genetic basis of heterosis)
heterozygous are more vigorous and more productive than homozygous parents
Overdominance
(genetic basis of heterosis)
Mirabilis jalapa, four o’clock plants
observation of cytoplasm (plastids inside cytoplasm)
Carl Correns
Chromosomals follow
Dominant gene
If gene is extrachromosomal, it follows
maternal inheritance
(expression of gene is not from nuclear)
nucleus: <blank>
cytoplasm:</blank>
Nucleus : maternal and paternal DNA
cytoplasm: maternal DNA
extrachromosomal genes are unable to show linkages with known nuclear genes
non-mappability
superiority of F1 hybrid over its parents in terms of yield or some characteristics
Heterosis or Hybrid Vigor
TRUE or FALSE: Selfing or pure-breeding parentals does not result to heterozygote F1
TRUE
to prevent selfing, <blank> must be done</blank>
emasculation
anthers are removed to render the plant <blank></blank>
male sterile
requirement for preventing emasculation
CMS or cytoplasmic male sterile
female CMS x male restorer gene