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 enzymetargeted 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

 1 / 2

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

NR 507 FINAL EXAM STUDY GUIDE VERSION 3 (LATEST 2021) | CHAMBERLAIN COLLEGE OF NURSINGNR 507 FINAL EXAM STUDY GUIDE VERSION 3 (LATEST 2021) | CHAMBERLAIN COLLEGE OF NURSING NR507 FINAL EXAM STUDY GUIDE VERSION 3 (LATEST 2021) | CHAMBERLAIN COLLEGE OF NURSING

Powered by qwivy(www.qwivy.org)

 2 / 2