NR 507 FINAL EXAM SUDY GUIDE VERSION 3
Epigenetics
1.Defects in the encoding of histone-modifying proteins (Chp 6 and 12 wk 1)
Histone modification (e.g., histone acetylation and deacetylation, alterations in
chromatin): Chromatin compaction and organization help to regulate gene
expression, determining and maintaining cell identity. Chromatin structure must be
controlled in self-renewing and differentiated cells in cell renewal systems. For
example, there are differences in chromatin structure in stem cells and terminally
differentiated cells
are chemical modifications of DNA sequences that alter the expression of
genes, resulting in disease and phenotypical variations (upon genetics)
types of epigenetic modifications
> DNA modification
> histone modification
> Microribonucleic acids (miRNAs) or mature miRNAs
> specific environmental or non-genetic factors, such as diet and exposure to
certain chemicals can affect epigenetic
Histone modifications- in diverse biological processes such as transcriptional
activation/inactivation, chromosome packaging, and DNA damage/repair.
Histone modifications (e.g. histone acetylation and deacetylation, chromatin
alterations)- Chromatin compaction and organization help to regulate gene
expression, determining and maintaining cell identity
quantitative detection of various histone modifications- would provide
useful information for a better understanding of epigenetic regulation of
cellular processes and the development of histone modifying enzyme-
targeted drugs.
Histone Modification- Results:
> Histone acetylation and deacetylation
> alterations in chromatin
2. Epigenetics and (45) its role on human development. (chp 6)
the study of influences on gene expression that occur without a DNA
change.
diseases and other phenotypic variation are caused by
mechanisms other than changes in the DNA sequences—
termed epigenetics (“upon genetics”).1Epigenetics is the study of heritable
1
, changes in gene expression or phenotype caused by mechanisms other than
changes in DNA sequences. Epigenetic modifications can cause individuals
with the same DNA sequences (such as identical twins) to have different
disease profiles
3. Totipotent cells
the zygote and early embryonic cells
Totipotent stem cells mean that they can produce an entire organism like
fertilized oocyte
What are totipotent stem cell
They are stem cell that can give rise to any and all cell of the human body.
They can give rise to a entire organism.
They cells are found on the first round of replication when the sperm and
egg unite or at the very earliest stage of development++.
and (49) its ability to differentiate into any type of cell
50. Prader-Willi syndrome and – missing the PATERNALLY imprinted copy of
chromosome 15,
Prader-Willi syndrome-features include short stature, hypotonia, small hands
and feet, obesity, mild to moderate mental retardation, and hypogonadism
behavioral characteristics of prader willi
Temper tantrums
Stubbornness
Controlling/manipulative
Compulsivity (especially with food)
Difficulty with changes in routine
10-20% young adults develop psychosis
4. Angelman syndrome? – loss of the maternal copy of UBE3A
2 major causes of angelman
microdeletion
paternal UPD
phenotype of angelman syndrome
severe developmental delay
NO SPEECH
"happy puppet"
hyperactivity
major seizure problem
fascinated with water
2
Epigenetics
1.Defects in the encoding of histone-modifying proteins (Chp 6 and 12 wk 1)
Histone modification (e.g., histone acetylation and deacetylation, alterations in
chromatin): Chromatin compaction and organization help to regulate gene
expression, determining and maintaining cell identity. Chromatin structure must be
controlled in self-renewing and differentiated cells in cell renewal systems. For
example, there are differences in chromatin structure in stem cells and terminally
differentiated cells
are chemical modifications of DNA sequences that alter the expression of
genes, resulting in disease and phenotypical variations (upon genetics)
types of epigenetic modifications
> DNA modification
> histone modification
> Microribonucleic acids (miRNAs) or mature miRNAs
> specific environmental or non-genetic factors, such as diet and exposure to
certain chemicals can affect epigenetic
Histone modifications- in diverse biological processes such as transcriptional
activation/inactivation, chromosome packaging, and DNA damage/repair.
Histone modifications (e.g. histone acetylation and deacetylation, chromatin
alterations)- Chromatin compaction and organization help to regulate gene
expression, determining and maintaining cell identity
quantitative detection of various histone modifications- would provide
useful information for a better understanding of epigenetic regulation of
cellular processes and the development of histone modifying enzyme-
targeted drugs.
Histone Modification- Results:
> Histone acetylation and deacetylation
> alterations in chromatin
2. Epigenetics and (45) its role on human development. (chp 6)
the study of influences on gene expression that occur without a DNA
change.
diseases and other phenotypic variation are caused by
mechanisms other than changes in the DNA sequences—
termed epigenetics (“upon genetics”).1Epigenetics is the study of heritable
1
, changes in gene expression or phenotype caused by mechanisms other than
changes in DNA sequences. Epigenetic modifications can cause individuals
with the same DNA sequences (such as identical twins) to have different
disease profiles
3. Totipotent cells
the zygote and early embryonic cells
Totipotent stem cells mean that they can produce an entire organism like
fertilized oocyte
What are totipotent stem cell
They are stem cell that can give rise to any and all cell of the human body.
They can give rise to a entire organism.
They cells are found on the first round of replication when the sperm and
egg unite or at the very earliest stage of development++.
and (49) its ability to differentiate into any type of cell
50. Prader-Willi syndrome and – missing the PATERNALLY imprinted copy of
chromosome 15,
Prader-Willi syndrome-features include short stature, hypotonia, small hands
and feet, obesity, mild to moderate mental retardation, and hypogonadism
behavioral characteristics of prader willi
Temper tantrums
Stubbornness
Controlling/manipulative
Compulsivity (especially with food)
Difficulty with changes in routine
10-20% young adults develop psychosis
4. Angelman syndrome? – loss of the maternal copy of UBE3A
2 major causes of angelman
microdeletion
paternal UPD
phenotype of angelman syndrome
severe developmental delay
NO SPEECH
"happy puppet"
hyperactivity
major seizure problem
fascinated with water
2
